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Abbreviation : WGS
Long Form : whole genome sequencing
No. Year Title Co-occurring Abbreviation
0 Surveillance of invasive meningococcal disease based on whole genome sequencing (WGS), Czech Republic, 2015. MLST
0 [The possibilities for the implementation of whole genome sequencing (WGS) of Neisseria meningitidis in molecular surveillance of invasive meningococcal disease in the Czech Republic]. NRL/MEN
2002 The Feline Genome Project. ---
2005 Sequence and expression analyses of Cytophaga-like hydrolases in a Western arctic metagenomic library and the Sargasso Sea. ---
2006 Accelerated expansion of group IID-like phospholipase A2 genes in Bos taurus. PLA2s
2008 A genetic linkage map for the ectomycorrhizal fungus Laccaria bicolor and its alignment to the whole-genome sequence assemblies. AFLPs, cM, RAPD, SNPs, SSRs
2008 Characterization of clinically-attenuated Burkholderia mallei by whole genome sequencing: candidate strain for exclusion from Select Agent lists. IS
2009 A domestic cat X chromosome linkage map and the sex-linked orange locus: mapping of orange, multiple origins and epistasis over nonagouti. PAR1
2010 Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing. EMS
10  2010 C. elegans mutant identification with a one-step whole-genome-sequencing and SNP mapping strategy. ---
11  2010 Revealing the human mutome. ---
12  2010 The impact of whole genome sequencing on model system genetics: get ready for the ride. ---
13  2010 [Strategies of the study on herb genome program]. HerbGP
14  2011 Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association. ---
15  2011 Deep sequencing of patient genomes for disease diagnosis: when will it become routine? ---
16  2011 Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. ---
17  2011 Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. ES
18  2011 Identification and characterization of genes required for compensatory growth in Drosophila. bun, RnrL, Top3alpha
19  2011 Performance comparison of exome DNA sequencing technologies. ---
20  2011 Qualitative thematic analysis of consent forms used in cancer genome sequencing. ELS, IC
21  2012 "I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. IF
22  2012 A framework for assessing the concordance of molecular typing methods and the true strain phylogeny of Campylobacter jejuni and C. coli using draft genome sequence data. AWC, CGF, HCC, MLST
23  2012 Campylobacter sequence typing databases: applications and future prospects. AGST, MLST
24  2012 Challenges in medical applications of whole exome/genome sequencing discoveries. DSVs, WES
25  2012 Clinical cancer genome and precision medicine. NGS, WES
26  2012 CloudMap: a cloud-based pipeline for analysis of mutant genome sequences. ---
27  2012 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. ---
28  2012 DNA fingerprinting of Mycobacterium tuberculosis: from phage typing to whole-genome sequencing. RDs, RFLP, SNPs, TB, VNTR
29  2012 Ethical issues with newborn screening in the genomics era. ---
30  2012 Evolutionary insight from whole-genome sequencing of experimentally evolved microbes. EE
31  2012 Factors influencing intention to undergo whole genome screening in future healthcare: a single-blind parallel-group randomised trial. AR, CFC, PMT, UA
32  2012 Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing. PAC
33  2012 Genomic variation in Salmonella enterica core genes for epidemiological typing. ---
34  2012 Identification of acquired antimicrobial resistance genes. ---
35  2012 Identification of candidate genes in rice for resistance to sheath blight disease by whole genome sequencing. nsSNPs
36  2012 Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. IC
37  2012 Multilocus sequence typing of total-genome-sequenced bacteria. MLST
38  2012 Mycobacterium tuberculosis--heterogeneity revealed through whole genome sequencing. Mtb
39  2012 Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. ASD, ID, WES
40  2012 Next-generation and whole-genome sequencing in the diagnostic clinical microbiology laboratory. NGS
41  2012 On the future of genetic risk assessment. NGS
42  2012 Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma. ONB, SNVs
43  2012 Pseudogenization of the MCP-2/CCL8 chemokine gene in European rabbit (genus Oryctolagus), but not in species of Cottontail rabbit (Sylvilagus) and Hare (Lepus). MCP, MYXV
44  2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. ---
45  2012 Significance of the identification in the Horn of Africa of an exceptionally deep branching Mycobacterium tuberculosis clade. MTBC, VNTR
46  2012 snpTree--a web-server to identify and construct SNP trees from whole genome sequence data. SNPs
47  2012 Structural mutations in cancer: mechanistic and functional insights. NGS
48  2012 Taming the hydra of specialized metabolism: how systems biology and comparative approaches are revolutionizing plant biochemistry. ---
49  2012 Taxonomizing, sizing, and overcoming the incidentalome. ---
50  2012 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. CMGs, ES
51  2012 The clinical implementation of whole genome sequencing: a conversation with seven scientific experts. ---
52  2012 Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. WES
53  2012 Virulence determinants in the obligate intracellular pathogen Chlamydia trachomatis revealed by forward genetic approaches. ---
54  2012 Whole genome sequencing (WGS) meets biogeography and shows that genomic selection in forest trees is feasible. ---
55  2012 Whole genome sequencing for quantifying germline mutation frequency in humans and model species: cautious optimism. ---
56  2012 Whole genome sequencing reveals local transmission patterns of Mycobacterium bovis in sympatric cattle and badger populations. bTB, SNPs, VNTR
57  2012 Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma. FL, HCL, HD, MCL, PEST, SMZL
58  2012 Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides. SNVs, sPCL
59  2012 Whole-Genome Sequencing to Identify Mutants and Polymorphisms in Chlamydomonas reinhardtii. ---
60  2013 A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. WES
61  2013 A pilot study of rapid whole-genome sequencing for the investigation of a Legionella outbreak. ---
62  2013 A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges. CLIA, NGS, WTS
63  2013 A practical method to detect SNVs and indels from whole genome and exome sequencing data. SNVs, WES
64  2013 Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing. DBSS, neoDBSS, SNP, SNV
65  2013 Automated extraction of typing information for bacterial pathogens from whole genome sequence data: Neisseria meningitidis as an exemplar. ---
66  2013 Clinical relevance of cancer genome sequencing. WES
67  2013 Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. MDS, sAML, VAFs
68  2013 Comparison of multilocus variable-number tandem-repeat analysis and whole-genome sequencing for investigation of Clostridium difficile transmission. CI, IQR, LVs, MLVA, SNVs, STRDs
69  2013 Comparison of the Legionella pneumophila population structure as determined by sequence-based typing and whole genome sequencing. SBT, ST
70  2013 Complete Genome Sequence of Pediococcus pentosaceus Strain SL4. ---
71  2013 Contact investigations for outbreaks of Mycobacterium tuberculosis: advances through whole genome sequencing. ---
72  2013 CoNVEX: copy number variation estimation in exome sequencing data using HMM. aCGH, CNV, DWT, HMM, WES
73  2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. ASD
74  2013 Diagnostic cancer genome sequencing and the contribution of germline variants. ---
75  2013 Effective preparation of Plasmodium vivax field isolates for high-throughput whole genome sequencing. PRBCs
76  2013 Efficient depletion of host DNA contamination in malaria clinical sequencing. ---
77  2013 Exome capture sequencing reveals new insights into hepatitis B virus-induced hepatocellular carcinoma at the early stage of tumorigenesis. HBV, HCC
78  2013 Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. ES, PGM, SNV
79  2013 Forward genetic approaches in Chlamydia trachomatis. ---
80  2013 Genome sequence analyses show that Neisseria oralis is the same species as 'Neisseria mucosa var. heidelbergensis'. rps
81  2013 Genomic insights into the fate of colistin resistance and Acinetobacter baumannii during patient treatment. ---
82  2013 Genomics and outbreak investigation: from sequence to consequence. ---
83  2013 Genotyping of human neutrophil antigens (HNA) from whole genome sequencing data. HNA, RFLP, SBT, SNPs, SSOP, SSP, TRALI
84  2013 Genotyping using whole-genome sequencing is a realistic alternative to surveillance based on phenotypic antimicrobial susceptibility testing. ST
85  2013 Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice. ---
86  2013 Identification of mutations in zebrafish using next-generation sequencing. ---
87  2013 In search of low-frequency and rare variants affecting complex traits. MAF, WES
88  2013 Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process. ---
89  2013 Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study. ---
90  2013 Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. CLIA, DBS, MTHFR, OCD, Y-BOCS
91  2013 Next-generation sequencing in schizophrenia and other neuropsychiatric disorders. WES
92  2013 Overview of molecular typing methods for outbreak detection and epidemiological surveillance. ---
93  2013 Phylogenomic analysis identifies gene gains that define Salmonella enterica subspecies I. SRA
94  2013 Population-Sequencing as a Biomarker of Burkholderia mallei and Burkholderia pseudomallei Evolution through Microbial Forensic Analysis. ---
95  2013 Providing pharmacogenomics clinical decision support using whole genome sequencing data as input. PDGs
96  2013 Rainbow: a tool for large-scale whole-genome sequencing data analysis using cloud computing. SNPs
97  2013 Rapid bacterial whole-genome sequencing to enhance diagnostic and public health microbiology. ---
98  2013 Reliable identification of genomic variants from RNA-seq data. WES
99  2013 Research and clinical applications of cancer genome sequencing. NGS
100  2013 Retrospective analysis of whole genome sequencing compared to prospective typing data in further informing the epidemiological investigation of an outbreak of Shigella sonnei in the UK. OJ
101  2013 Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. GEM, NF1, PA
102  2013 The genetic basis of white tigers. RAD-seq
103  2013 The mutation rate of mycobacterial repetitive unit loci in strains of M. tuberculosis from cynomolgus macaque infection. CNV, MIRUs, Mtb, PEM, RD, TB
104  2013 The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information. CDS
105  2013 The usefulness of whole genome sequencing in the management of Staphylococcus aureus infections. ---
106  2013 Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. DSBs, HR, iUPD, SNP, UPD
107  2013 Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. ENU, IBD
108  2013 Updating the Y-chromosomal phylogenetic tree for forensic applications based on whole genome SNPs. ---
109  2013 VirusFinder: software for efficient and accurate detection of viruses and their integration sites in host genomes through next generation sequencing data. NGS
110  2013 Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. EEG, MRI, SS
111  2013 Whole genome sequencing identifies zoonotic transmission of MRSA isolates with the novel mecA homologue mecC. MRSA, SNP
112  2013 Whole genome sequencing in support of wellness and health maintenance. CHDWB, GWAS
113  2013 Whole genome sequencing of M.tuberculosis in Kazakhstan: preliminary data. Mtb
114  2013 Whole genome sequencing reveals complex evolution patterns of multidrug-resistant Mycobacterium tuberculosis Beijing strains in patients. MDR, MTBC, TB, XDR
115  2013 Whole genome sequencing versus traditional genotyping for investigation of a Mycobacterium tuberculosis outbreak: a longitudinal molecular epidemiological study. Mtb, SNPs
116  2013 Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma. HBV, HCC, JAK1
117  2014 A chemical mutagenesis approach to identify virulence determinants in the obligate intracellular pathogen Chlamydia trachomatis. ---
118  2014 A multi-level model for analyzing whole genome sequencing family data with longitudinal traits. ---
119  2014 A multicentre hospital outbreak in Sweden caused by introduction of a vanB2 transposon into a stably maintained pRUM-plasmid in an Enterococcus faecium ST192 clone. MLST, VREfm
120  2014 A proposed clinical decision support architecture capable of supporting whole genome sequence information. CDS, EHR
121  2014 A universal protocol to generate consensus level genome sequences for foot-and-mouth disease virus and other positive-sense polyadenylated RNA viruses using the Illumina MiSeq. FMDV, NGS
122  2014 Accurate and robust prediction of genetic relationship from whole-genome sequences. GRAB
123  2014 An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program. ---
124  2014 An evaluation of alternative methods for constructing phylogenies from whole genome sequence data: a case study with Salmonella. NGS, SNP
125  2014 An evaluation of copy number variation detection tools from whole-exome sequencing data. CNV, WES
126  2014 Analysis of homozygosity disequilibrium using whole-genome sequencing data. HD, LOHAS, REN, ROHs
127  2014 Application of next-generation sequencing technologies in Neurology. GWAS, NGS, WES
128  2014 Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals. CASAVA, SNPs, SSMP
129  2014 Bacterial genome sequencing in the clinic: bioinformatic challenges and solutions. ---
130  2014 Bacterial whole-genome sequencing revisited: portable, scalable, and standardized analysis for typing and detection of virulence and antibiotic resistance genes. ICUs, MRSA, spa
131  2014 CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects. MPS
132  2014 Carbapenem-resistant Klebsiella pneumoniae producing New Delhi metallo-beta-lactamase at an acute care hospital, Colorado, 2012. CRE, IC, NDM, PFGE, SCs
133  2014 Carriage of methicillin-resistant Staphylococcus aureus by wild urban Norway rats (Rattus norvegicus). MRSA
134  2014 Challenges of linkage analysis in the era of whole-genome sequencing. ---
135  2014 Choice of reference sequence and assembler for alignment of Listeria monocytogenes short-read sequence data greatly influences rates of error in SNP analyses. SNPs
136  2014 Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype. CDS
137  2014 Clinical interpretation and implications of whole-genome sequencing. ---
138  2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. NSEOE, OS
139  2014 Clonal architectures and driver mutations in metastatic melanomas. ---
140  2014 Comparative genomic analysis and virulence differences in closely related salmonella enterica serotype heidelberg isolates from humans, retail meats, and animals. Inc, PacBio, S. Heidelberg, SNP
141  2014 Comparing whole-genome sequencing with Sanger sequencing for spa typing of methicillin-resistant Staphylococcus aureus. MRSA, SNP
142  2014 Comparison of Multi-Sample Variant Calling Methods for Whole Genome Sequencing. ADNI, NGS, SNVs
143  2014 Copy number variation analysis based on AluScan sequences. CBS, CNV, GHT
144  2014 Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegans. CYB-3, oaCGH, SAC
145  2014 Deriving group A Streptococcus typing information from short-read whole-genome sequencing data. GAS
146  2014 Designing algorithms for determining significance of DNA missense changes. ---
147  2014 Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. CGH, PCR
148  2014 Dissemination of cephalosporin resistance genes between Escherichia coli strains from farm animals and humans by specific plasmid lineages. ESBL, SNPs
149  2014 DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly. FFPE
150  2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. NDDs, WES
151  2014 Enhanced whole genome sequence and annotation of Clostridium stercorarium DSM8532T using RNA-seq transcriptomics and high-throughput proteomics. ---
152  2014 Estimating genome-wide significance for whole-genome sequencing studies. ---
153  2014 Ethical issues raised by whole genome sequencing. WES
154  2014 Evaluation of whole genome sequencing for outbreak detection of Salmonella enterica. ---
155  2014 Evolution of Staphylococcus aureus and MRSA during outbreaks. MGE, MRSA, SNPs
156  2014 Exploiting the explosion of information associated with whole genome sequencing to tackle Shiga toxin-producing Escherichia coli (STEC) in global food production systems. STEC
157  2014 Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer. CRC
158  2014 From days to hours: reporting clinically actionable variants from whole genome sequencing. ---
159  2014 Genome analysis of NDM-1 producing Morganella morganii clinical isolate. ---
160  2014 Genome sequencing and characterization of an extensively drug-resistant sequence type 111 serotype O12 hospital outbreak strain of Pseudomonas aeruginosa. ---
161  2014 Genome sequencing of an extended series of NDM-producing Klebsiella pneumoniae isolates from neonatal infections in a Nepali hospital characterizes the extent of community- versus hospital-associated transmission in an endemic setting. ---
162  2014 Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. ---
163  2014 Genomic counseling in the newborn period: experiences and views of genetic counselors. NBS, NSGC, WES
164  2014 Genomic epidemiology of a protracted hospital outbreak caused by multidrug-resistant Acinetobacter baumannii in Birmingham, England. SNVs
165  2014 High diversity of beta-lactamases in the General Hospital Vienna verified by whole genome sequencing and statistical analysis. ESBL
166  2014 High-Throughput Sequencing, a VersatileWeapon to Support Genome-Based Diagnosis in Infectious Diseases: Applications to Clinical Bacteriology. HTS
167  2014 Higher criticism approach to detect rare variants using whole genome sequencing data. HC
168  2014 Identification of suppressors of mbk-2/DYRK by whole-genome sequencing. SNP
169  2014 Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions. CNV, LOH, SeTRs, UPD, WEGS
170  2014 Improved method for screening mitochondrial cytochrome b markers to identify regional populations of the Old World screwworm fly and other myiasis agents. cyt b
171  2014 Imputation in families using a heuristic phasing approach. GWAS
172  2014 In silico detection and typing of plasmids using PlasmidFinder and plasmid multilocus sequence typing. pMLST, STs
173  2014 In silico detection of phylogenetic informative Y-chromosomal single nucleotide polymorphisms from whole genome sequencing data. Y-SNPs
174  2014 Insights to genetic characterization tools for epidemiological tracking of Francisella tularensis in Sweden. canSNPs
175  2014 Integrated analysis of whole genome and transcriptome sequencing reveals diverse transcriptomic aberrations driven by somatic genomic changes in liver cancers. HBV, HCCs
176  2014 Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia. STAT5, T-PLL, WES
177  2014 Investigation of de novo unique differentially expressed genes related to evolution in exercise response during domestication in Thoroughbred race horses. BP-GO, DBA, DEGs, DUDEG, RBA
178  2014 Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data. ---
179  2014 Large-scale identification of chemically induced mutations in Drosophila melanogaster. ---
180  2014 Long insert whole genome sequencing for copy number variant and translocation detection. ---
181  2014 Longitudinal data analysis for genetic studies in the whole-genome sequencing era. GWAS, LME
182  2014 Marked microevolution of a unique Mycobacterium tuberculosis strain in 17 years of ongoing transmission in a high risk population. TB
183  2014 Mechanisms of linezolid resistance among coagulase-negative staphylococci determined by whole-genome sequencing. CoNS
184  2014 Microbiota present in cystic fibrosis lungs as revealed by whole genome sequencing. ---
185  2014 Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. LQTS
186  2014 Multicenter outbreak of infections by Saprochaete clavata, an unrecognized opportunistic fungal pathogen. ---
187  2014 Multilocus sequence typing (MLST) and whole-genome MLST of Campylobacter jejuni isolates from human infections in three districts during a seasonal peak in Finland. CC, MLST, STs, wgMLST
188  2014 Newborn screening in the genomics era. NBS, WG-NBS
189  2014 Newly-derived neuroblastoma cell lines propagated in serum-free media recapitulate the genotype and phenotype of primary neuroblastoma tumours. aCGH, TICs
190  2014 Phenotypic and genotypic analysis of Clostridium difficile isolates: a single-center study. CDI, MLST, SNPs, STs
191  2014 Plasmid flux in Escherichia coli ST131 sublineages, analyzed by plasmid constellation network (PLACNET), a new method for plasmid reconstruction from whole genome sequences. ExPEC, PLACNET
192  2014 Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. SVs
193  2014 Prediction of Staphylococcus aureus antimicrobial resistance by whole-genome sequencing. ---
194  2014 Presence of extensive Wolbachia symbiont insertions discovered in the genome of its host Glossina morsitans morsitans. cytWol, Gmm, HGT
195  2014 Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline. ---
196  2014 Rapid whole-genome sequencing for detection and characterization of microorganisms directly from clinical samples. ---
197  2014 Real-time investigation of a Legionella pneumophila outbreak using whole genome sequencing. ---
198  2014 Real-time whole-genome sequencing for routine typing, surveillance, and outbreak detection of verotoxigenic Escherichia coli. MLST, SSI, VTEC, vtx, vtx1, vtx2
199  2014 Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods. DNM, LR, SNVs
200  2014 Reducing INDEL calling errors in whole genome and exome sequencing data. WES
201  2014 Relationship estimation from whole-genome sequence data. IBD, SNP, SNVs
202  2014 Seeking the source of Pseudomonas aeruginosa infections in a recently opened hospital: an observational study using whole-genome sequencing. ---
203  2014 Sequencing the AML genome, transcriptome, and epigenome. AML, MPS
204  2014 Should the Affordable Care Act's preventive services coverage provision be used to widely disseminate whole genome sequencing to Americans? ACA
205  2014 Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. CNVs, HMG
206  2014 Solving the problem of comparing whole bacterial genomes across different sequencing platforms. ---
207  2014 SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets. NGS, P/A, PGM, SNP
208  2014 SRST2: Rapid genomic surveillance for public health and hospital microbiology labs. MLST
209  2014 Standing of nucleic acid testing strategies in veterinary diagnosis laboratories to uncover Mycobacterium tuberculosis complex members. HTS, NAT, PCR, SWOT
210  2014 Technical desiderata for the integration of genomic data with clinical decision support. CDS, EHR
211  2014 The characteristics of ubiquitous and unique Leptospira strains from the collection of Russian centre for leptospirosis. ---
212  2014 The evolutionary history and diagnostic utility of the CRISPR-Cas system within Salmonella enterica ssp. enterica. CRISPRs, MLST
213  2014 The First Kazakh Whole Genomes: The First Report of NGS Data. ---
214  2014 The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. CNAs, WM
215  2014 The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. ---
216  2014 The reproducibility of adaptation in the light of experimental evolution with whole genome sequencing. ---
217  2014 Traditional roles in a non-traditional setting: genetic counseling in precision oncology. ACMG, GCs, MI-ONCOSEQ, PMTB
218  2014 Transmission of methicillin-resistant Staphylococcus aureus via deceased donor liver transplantation confirmed by whole genome sequencing. MRSA, SOT
219  2014 Variant calling in low-coverage whole genome sequencing of a Native American population sample. LD
220  2014 Variant detection sensitivity and biases in whole genome and exome sequencing. SNPs
221  2014 WGS Analysis and Interpretation in Clinical and Public Health Microbiology Laboratories: What Are the Requirements and How Do Existing Tools Compare? ---
222  2014 Whole genome sequencing and the transformation of C. elegans forward genetics. ---
223  2014 Whole genome sequencing as a diagnostic test: challenges and opportunities. ---
224  2014 Whole genome sequencing as a tool to investigate a cluster of seven cases of listeriosis in Austria and Germany, 2011-2013. FAFLP, MLST, PFGE, sv
225  2014 Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer. mCRC
226  2014 Whole-genome analysis of a patient with early-stage small-cell lung cancer. NS, SCLC, SNVs
227  2014 Whole-genome analysis of Exserohilum rostratum from an outbreak of fungal meningitis and other infections. NECC, SNPs
228  2014 Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome. CNVs, LFS
229  2014 Whole-genome sequencing in newborn screening programs. NBS
230  2014 Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. CNVs, GWAS, OR, SNVs
231  2014 Whole-genome sequencing of the Mycobacterium tuberculosis Manila sublineage results in less clustering and better resolution than mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) typing and spoligotyping. MIRU-VNTR
232  2014 Whole-genome sequencing to control antimicrobial resistance. ---
233  2014 Whole-genome sequencing to detect recent transmission of Mycobacterium tuberculosis in settings with a high burden of tuberculosis. TB, VNTR
234  2014 Whole-genome-based Mycobacterium tuberculosis surveillance: a standardized, portable, and expandable approach. cgMLST, MTBC, SNP
235  2014 Why we should not use the Affordable Care Act to encourage widespread whole genome sequencing. ACA
236  2014 [Whole-genome sequencing and its application in the research and diagnoses of genetic diseases]. CNVs, InDels, SNVs, SVs
237  2015 A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. ---
238  2015 A comparison of isolated circulating tumor cells and tissue biopsies using whole-genome sequencing in prostate cancer. CTCs, LCM, SSNVs, SVs
239  2015 A high-resolution genomic analysis of multidrug-resistant hospital outbreaks of Klebsiella pneumoniae. MDR
240  2015 A personalised medicine approach for ponatinib-resistant chronic myeloid leukaemia. CML, TKIs
241  2015 A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children. LD, NGS, WES
242  2015 Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. ASCN, CNVs, WES
243  2015 Analysis of genomic rearrangements by using the Burrows-Wheeler transform of short-read data. BWT
244  2015 Anatomical distribution of Mycobacterium bovis genotypes in experimentally infected white-tailed deer. M. bovis, SNP, WTD
245  2015 Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders. CVIDs
246  2015 Application of whole-genome sequencing for bacterial strain typing in molecular epidemiology. PFGE
247  2015 Assembly and variation analyses of Clarias batrachus mitogenome retrieved from WGS data and its phylogenetic relationship with other catfishes. ---
248  2015 Assessment of the Utility of Whole Genome Sequencing of Measles Virus in the Characterisation of Outbreaks. MeV, WGS-t
249  2015 Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients. ---
250  2015 Bioinformatic Characterization of Genes and Proteins Involved in Blood Clotting in Lampreys. ---
251  2015 Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles. Bp, MLST, R-M
252  2015 Cancer whole-genome sequencing: present and future. ---
253  2015 Challenges in essential tremor genetics. CNVs, ET, GWAS, PD
254  2015 Characterization of Foodborne Outbreaks of Salmonella enterica Serovar Enteritidis with Whole-Genome Sequencing Single Nucleotide Polymorphism-Based Analysis for Surveillance and Outbreak Detection. PFGE, SNP
255  2015 Characterization of Vibrio parahaemolyticus clinical strains from Maryland (2012-2013) and comparisons to a locally and globally diverse V. parahaemolyticus strains by whole-genome sequence analysis. MD, MLST, PFGE, US
256  2015 Clinical application of whole-genome sequencing to inform treatment for multidrug-resistant tuberculosis cases. DST, XDR-TB
257  2015 Clinical value of whole-genome sequencing of Mycobacterium tuberculosis. ---
258  2015 Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia. MPNs, PMF, sAML
259  2015 CNOGpro: detection and quantification of CNVs in prokaryotic whole-genome sequencing data. CNV
260  2015 Comparative whole genome sequencing of community-associated methicillin-resistant Staphylococcus aureus sequence type 8 from primary care clinics in a Texas community. CA-MRSA, SNPs
261  2015 Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. WES
262  2015 Comparison of whole-genome (13X) and capture (87X) resequencing methods for SNP and genotype callings. ---
263  2015 Complete Genome Sequence of Linezolid-Susceptible Staphylococcus haemolyticus Sh29/312/L2, a Clonal Derivative of a Linezolid-Resistant Clinical Strain. ---
264  2015 Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. BAV, CHD, HLHS, iPSC
265  2015 Comprehensive Characterization of Escherichia coli O104:H4 Isolated from Patients in the Netherlands. HUS, ST
266  2015 Comprehensive molecular, genomic and phenotypic analysis of a major clone of Enterococcus faecalis MLST ST40. MGE
267  2015 CONSERTING: integrating copy-number analysis with structural-variation detection. CNA, CONSERTING
268  2015 Construction of a virtual Mycobacterium tuberculosis consensus genome and its application to data from a next generation sequencer. CS, MTBCs, NGSs, SNPs
269  2015 Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma. CNAs, EA, NGS
270  2015 Core Genome Multilocus Sequence Typing Scheme for High- Resolution Typing of Enterococcus faecium. cgMLST, MLST, SNP, ST
271  2015 Cryptococcus gattii in the Age of Whole-Genome Sequencing. MLST
272  2015 Current trend of annotating single nucleotide variation in humans--A case study on SNVrap. WES
273  2015 Defining and Evaluating a Core Genome Multilocus Sequence Typing Scheme for Whole-Genome Sequence-Based Typing of Listeria monocytogenes. cgMLST
274  2015 Design and application of a core genome multilocus sequence typing scheme for investigation of Legionnaires' disease incidents. LD, Lp, SBT, SNP
275  2015 Detecting Genetic Risk Factors for Alzheimer's Disease in Whole Genome Sequence Data via Lasso Screening. AD, ADNI, DPP, SNP
276  2015 Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. IVF, PGD
277  2015 Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care. ---
278  2015 Direct multiplexed whole genome sequencing of respiratory tract samples reveals full viral genomic information. RTI
279  2015 Discovering Alzheimer Genetic Biomarkers Using Bayesian Networks. AD, GWA, SNPs
280  2015 Diversity and disease pathogenesis in Mycobacterium tuberculosis. TB
281  2015 Diversity and Evolution in the Genome of Clostridium difficile. CDI
282  2015 Ecological prevalence, genetic diversity, and epidemiological aspects of Salmonella isolated from tomato agricultural regions of the Virginia Eastern Shore. ---
283  2015 Ensuring backwards compatibility: traditional genotyping efforts in the era of whole genome sequencing. MRSA
284  2015 Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system. InDels, NGS, SNVs
285  2015 Examining phylogenetic relationships among gibbon genera using whole genome sequence data using an approximate bayesian computation approach. ABC, mtDNA
286  2015 Exome sequence read depth methods for identifying copy number changes. CNVs, SCNV, WES, XHMM
287  2015 Expression of a Chimeric Antigen Receptor in Multiple Leukocyte Lineages in Transgenic Mice. CARs, WT
288  2015 Fast and low-cost decentralized surveillance of transmission of tuberculosis based on strain-specific PCRs tailored from whole genome sequencing data: a pilot study. TB, TRAP
289  2015 First step in using molecular data for microbial food safety risk assessment; hazard identification of Escherichia coli O157:H7 by coupling genomic data with in vitro adherence to human epithelial cells. GWAS, MRA, STEC
290  2015 FOXO1 inhibits osteosarcoma oncogenesis via Wnt/beta-catenin pathway suppression. OS
291  2015 Generation of whole genome sequences of new Cryptosporidium hominis and Cryptosporidium parvum isolates directly from stool samples. IMS
292  2015 GeneSippr: a rapid whole-genome approach for the identification and characterization of foodborne pathogens such as priority Shiga toxigenic Escherichia coli. STEC
293  2015 Genetic and genomic approaches to identify genes involved in flagellar assembly in Chlamydomonas reinhardtii. ---
294  2015 Genetic linkage analysis in the age of whole-genome sequencing. GWASs
295  2015 Genetic markers, genotyping methods & next generation sequencing in Mycobacterium tuberculosis. ME, MIRU-VNTR, NGS, RFLP, SNPs
296  2015 Genetics professionals' opinions of whole-genome sequencing in the newborn period. ACMG, NBS, RUSP
297  2015 Genome sequence comparison of Aspergillus fumigatus strains isolated from patients with pulmonary aspergilloma and chronic necrotizing pulmonary aspergillosis. CNPA, PA
298  2015 Genome-wide patterns of differentiation and spatially varying selection between postglacial recolonization lineages of Populus alba (Salicaceae), a widespread forest tree. GO, SNPs
299  2015 Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma. ESCC, WES
300  2015 Genomic Analysis of the Evolution and Global Spread of Hyper-invasive Meningococcal Lineage 5. ---
301  2015 Genomic Context of Azole Resistance Mutations in Aspergillus fumigatus Determined Using Whole-Genome Sequencing. SNP, TR
302  2015 Genomic epidemiology of age-associated meningococcal lineages in national surveillance: an observational cohort study. IMD, MRF-MGL
303  2015 Genomic Epidemiology of an Endoscope-Associated Outbreak of Klebsiella pneumoniae Carbapenemase (KPC)-Producing K. pneumoniae. ERCP, ESBL, KPC, MLST, PFGE
304  2015 Genomic Epidemiology of Clostridium botulinum Isolates from Temporally Related Cases of Infant Botulism in New South Wales, Australia. MLST, SNP
305  2015 Genomic Investigations unmask Mycoplasma amphoriforme, a new respiratory pathogen. PAD
306  2015 Genomic medicine and risk prediction across the disease spectrum. NCDs, PSGT
307  2015 Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies. ChRCC, ICGC, mtDNA
308  2015 Giardia spp. Are Commonly Found in Mixed Assemblages in Surface Water, as Revealed by Molecular and Whole-Genome Characterization. BC
309  2015 Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome. GBM
310  2015 Harnessing cross-species alignment to discover SNPs and generate a draft genome sequence of a bighorn sheep (Ovis canadensis). GO
311  2015 High-Resolution Analysis by Whole-Genome Sequencing of an International Lineage (Sequence Type 111) of Pseudomonas aeruginosa Associated with Metallo-Carbapenemases in the United Kingdom. MBL, ST111
312  2015 How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study. ---
313  2015 Human Structural Variation: Mechanisms of Chromosome Rearrangements. HERV, LINE, NAHR, NGS, SV
314  2015 Identification of altered cis-regulatory elements in human disease. TF
315  2015 Identification of copy number variants in whole-genome data using Reference Coverage Profiles. CNVs, HMM, RCPs
316  2015 Identification of hallmarks of lung adenocarcinoma prognosis using whole genome sequencing. CNVs
317  2015 Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. MODY, SV
318  2015 iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing. SNVs
319  2015 Implications of Tumor Clonal Heterogeneity in the Era of Next-Generation Sequencing. NGS
320  2015 Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. SNP
321  2015 Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. GAGs
322  2015 Insight into Shiga toxin genes encoded by Escherichia coli O157 from whole genome sequencing. STEC, Stx
323  2015 Integration of whole-genome sequencing into infection control practices: the potential and the hurdles. ---
324  2015 Is Shiga Toxin-Negative Escherichia coli O157:H7 Enteropathogenic or Enterohemorrhagic Escherichia coli? Comprehensive Molecular Analysis Using Whole-Genome Sequencing. aEPEC, NSF, SF, STEC, Stx
325  2015 Klebsiella pneumoniae carbapenemase (KPC)-producing K. pneumoniae at a single institution: insights into endemicity from whole-genome sequencing. KPC, KPC-Kp, STs
326  2015 Library preparation methodology can influence genomic and functional predictions in human microbiome research. ---
327  2015 Limitations of variable number of tandem repeat typing identified through whole genome sequencing of Mycobacterium avium subsp. paratuberculosis on a national and herd level. MAP, VNTR
328  2015 Listeria monocytogenes: Strain Heterogeneity, Methods, and Challenges of Subtyping. PFGE
329  2015 Massively parallel sequencing of forensically relevant single nucleotide polymorphisms using TruSeq™ forensic amplicon. apSNPs, iSNPs, MPS, SNPs
330  2015 Mechanisms and impact of genetic recombination in the evolution of Streptococcus pneumoniae. ---
331  2015 Microevolution of Anthrax from a Young Ancestor (M.A.Y.A.) Suggests a Soil-Borne Life Cycle of Bacillus anthracis. M.A.Y.A, PHRANA
332  2015 Monitoring meticillin resistant Staphylococcus aureus and its spread in Copenhagen, Denmark, 2013, through routine whole genome sequencing. CC, MRSA, SNP, SPA, ST
333  2015 Next-generation diagnostics: gene panel, exome, or whole genome? ID, NGS, WES
334  2015 Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. CNV, NGS
335  2015 One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies. WES
336  2015 Optimizing cancer genome sequencing and analysis. ---
337  2015 Outbreak of Salmonella Newport infections linked to cucumbers--United States, 2014. FDA, PFGE
338  2015 Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research. ---
339  2015 PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. LCR, PacBio, PTLS, SVs
340  2015 Parent and public interest in whole-genome sequencing. ---
341  2015 Partial Failure of Milk Pasteurization as a Risk for the Transmission of Campylobacter From Cattle to Humans. ---
342  2015 Phylogenetic analysis of HCV subgenotypes in patients from Sichuan province in China based on the NS5B region. HCV
343  2015 Phylogenetic and genomic diversity in isolates from the globally distributed Acinetobacter baumannii ST25 lineage. ST
344  2015 PhyResSE: a Web Tool Delineating Mycobacterium tuberculosis Antibiotic Resistance and Lineage from Whole-Genome Sequencing Data. ---
345  2015 Prognostic significance of novel katG mutations in Mycobacterium tuberculosis. GCDD, MDR-TB, Mtb, WHO
346  2015 Public Health Investigation of Two Outbreaks of Shiga Toxin-Producing Escherichia coli O157 Associated with Consumption of Watercress. outbreak 2, PT2, STEC
347  2015 Public perceptions of bacterial whole-genome sequencing for tuberculosis. ---
348  2015 Rapid and Easy In Silico Serotyping of Escherichia coli Isolates by Use of Whole-Genome Sequencing Data. CGE
349  2015 Rapid real-time PCR methods to distinguish Salmonella Enteritidis wildtype field isolates from vaccine strains Salmovac SE/Gallivac SE and AviPro SALMONELLA VAC E. HRM
350  2015 Rapid whole genome sequencing and precision neonatology. ---
351  2015 Rcorrector: efficient and accurate error correction for Illumina RNA-seq reads. RNA
352  2015 Reappearance of Salmonella serovar Choleraesuis var. Kunzendorf in Danish pig herds. PFGE, SNPs
353  2015 Relationships among cleaning, environmental DNA, and healthcare-associated infections in a new evidence-based design hospital. EBD, HAI, MDR, PFGE, TOs
354  2015 Return of genetic testing results in the era of whole-genome sequencing. ---
355  2015 Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues. WES
356  2015 Salmonella serotype determination utilizing high-throughput genome sequencing data. ---
357  2015 Selective Pressure of Temperature on Competition and Cross-Feeding within Denitrifying and Fermentative Microbial Communities. ---
358  2015 SeqHBase: a big data toolset for family based sequencing data analysis. VCF, WES
359  2015 Sequencing strategies and characterization of 721 vervet monkey genomes for future genetic analyses of medically relevant traits. LD, NHP, SNPs, VRC
360  2015 Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). RBP5, TAPVR
361  2015 SISPA-Seq for rapid whole genome surveys of bacterial isolates. ABR, SISPA, SNVs
362  2015 Somatic CRISPR/Cas9-mediated tumour suppressor disruption enables versatile brain tumour modelling. ---
363  2015 Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation. oaCGH
364  2015 Staphylococcus aureus infections: transmission within households and the community. ---
365  2015 Strategies to develop strain-specific PCR based assays for probiotics. ---
366  2015 Studying Bordetella pertussis populations by use of SNPeX, a simple high-throughput single nucleotide polymorphism typing method. SNP, SnpTs
367  2015 Switching to zebrafish neurobehavioral models: The obsessive-compulsive disorder paradigm. OCD
368  2015 TGS-TB: Total Genotyping Solution for Mycobacterium tuberculosis Using Short-Read Whole-Genome Sequencing. Mtb, NGS, SNVs, TGS-TB, VNTR
369  2015 The application of genomics to tracing bacterial pathogen transmission. ---
370  2015 The effect of rare alleles on estimated genomic relationships from whole genome sequence data. MAF, SNP
371  2015 The evolution of Campylobacter jejuni and Campylobacter coli. MLST
372  2015 The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. ALL, WES
373  2015 The role of pathogen genomics in assessing disease transmission. ---
374  2015 The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data. eVCF, WES
375  2015 Tracking a tuberculosis outbreak over 21 years: strain-specific single-nucleotide polymorphism typing combined with targeted whole-genome sequencing. SNP
376  2015 Transcriptional adaptations during long-term persistence of Staphylococcus aureus in the airways of a cystic fibrosis patient. CF, qRT, RNA-Seq
377  2015 Transflip mutations produce deletions in pancreatic cancer. HDs, PDAC, SNP, SVs, TSGs
378  2015 Transmission and microevolution of USA300 MRSA in U.S. households: evidence from whole-genome sequencing. MRSA, SNPs, SSTIs
379  2015 Transmitted Extended-Spectrum Extensively Drug-Resistant Tuberculosis in Beijing, China, with Discordant Whole-Genome Sequencing Analysis Results. ---
380  2015 TreeSeq, a Fast and Intuitive Tool for Analysis of Whole Genome and Metagenomic Sequence Data. ---
381  2015 Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes. SNVs
382  2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. LOF, VUS
383  2015 Utility of Whole-Genome Sequencing of Escherichia coli O157 for Outbreak Detection and Epidemiological Surveillance. MLVA, SNPs
384  2015 Virulence Characterization of Salmonella enterica by a New Microarray: Detection and Evaluation of the Cytolethal Distending Toxin Gene Activity in the Unusual Host S. Typhimurium. SPI
385  2015 Whole Genome Sequence Analysis of Salmonella Enteritidis PT4 Outbreaks from a National Reference Laboratory's Viewpoint. BRIG, MLVA, S. Enteritidis
386  2015 Whole genome sequence typing and microarray profiling of nasal and blood stream methicillin-resistant Staphylococcus aureus isolates: Clues to phylogeny and invasiveness. CC, MA, MRSA, SNP
387  2015 Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations. GWAS, LD
388  2015 Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. NGS
389  2015 Whole genome sequencing based characterization of extensively drug-resistant Mycobacterium tuberculosis isolates from Pakistan. Mtb, SNPs, XDR
390  2015 Whole Genome Sequencing for the Retrospective Investigation of an Outbreak of Salmonella Typhimurium DT 8. ---
391  2015 Whole genome sequencing in clinical and public health microbiology. ---
392  2015 Whole Genome Sequencing Investigation of a Tuberculosis Outbreak in Port-au-Prince, Haiti Caused by a Strain with a "Low-Level" rpoB Mutation L511P - Insights into a Mechanism of Resistance Escalation. DST, MDR-TB, RIF
393  2015 Whole genome sequencing provides possible explanations for the difference in phage susceptibility among two Salmonella Typhimurium phage types (DT8 and DT30) associated with a single foodborne outbreak. CRISPRs, DT, ETEC, ICE, MTase
394  2015 Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. ASD
395  2015 Whole genome sequencing: a new paradigm in the surveillance and control of human tuberculosis. ---
396  2015 Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. ACH, CNV, FGFR3, HCH, US, WES
397  2015 Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey. NGS, SMARD, WES
398  2015 Whole-genome analysis of Fusarium graminearum insertional mutants identifies virulence associated genes and unmasks untagged chromosomal deletions. ---
399  2015 Whole-genome phylogenomic heterogeneity of Neisseria gonorrhoeae isolates with decreased cephalosporin susceptibility collected in Canada between 1989 and 2013. ESC-DS, NG-MAST, ST
400  2015 Whole-Genome Sequencing Allows for Improved Identification of Persistent Listeria monocytogenes in Food-Associated Environments. SNP
401  2015 Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations. 22q11DS, SNVs, TOF
402  2015 Whole-Genome Sequencing Data for Serotyping Escherichia coli-It's Time for a Change! ---
403  2015 Whole-genome sequencing for national surveillance of Shiga toxin-producing Escherichia coli O157. MLVA, STEC O157
404  2015 Whole-genome Sequencing for Tracing the Transmission Link between Two ARD Outbreaks Caused by a Novel HAdV Serotype 7 Variant, China. ---
405  2015 Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. ITGB4, JEB
406  2015 Whole-genome sequencing identifies patient-specific DNA minimal residual disease markers in neuroblastoma. MRD
407  2015 Whole-genome sequencing improves discrimination of relapse from reinfection and identifies transmission events among patients with recurrent Clostridium difficile infections. CDI, LOS, PCR, SNVs
408  2015 Whole-genome sequencing in hierarchy with pulsed-field gel electrophoresis: the utility of this approach to establish possible sources of MRSA cross-transmission. MRSA, PFGE
409  2015 Whole-genome sequencing in outbreak analysis. NGS
410  2015 Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. HQ, SNVs, WES
411  2015 Whole-genome sequencing of a pandoravirus isolated from keratitis-inducing acanthamoeba. ---
412  2015 Whole-genome sequencing of quartet families with autism spectrum disorder. ASD
413  2015 Whole-genome sequencing targets drug-resistant bacterial infections. MDR
414  2016 A 1.35Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. SV
415  2016 A comprehensive next generation sequencing-based virome assessment in brain tissue suggests no major virus - tumor association. GBM, HCMV, NGS
416  2016 A decade of genomic history for healthcare-associated Enterococcus faecium in the United Kingdom and Ireland. MLST, ST, VRE, VREfm
417  2016 A High-resolution Typing Assay for Uropathogenic Escherichia coli Based on Fimbrial Diversity. MLST, UPEC, UTIs
418  2016 A Look into the Melting Pot: The mecC-Harboring Region Is a Recombination Hot Spot in Staphylococcus stepanovicii. HGT, SCCmec
419  2016 A Nonautochthonous U.S. Strain of Vibrio parahaemolyticus Isolated from Chesapeake Bay Oysters Caused the Outbreak in Maryland in 2010. CC, MLST, PFGE, STs, wgMLST, wgMLST
420  2016 A Primer on Infectious Disease Bacterial Genomics. HTS
421  2016 A robust ambient temperature collection and stabilization strategy: Enabling worldwide functional studies of the human microbiome. ---
422  2016 A strategic stakeholder approach for addressing further analysis requests in whole genome sequencing research. ---
423  2016 Advances in Molecular Serotyping and Subtyping of Escherichia coli. ---
424  2016 Alternate-locus aware variant calling in whole genome sequencing. ASDPs
425  2016 An extended genotyping framework for Salmonella enterica serovar Typhi, the cause of human typhoid. S. Typhi
426  2016 An Outbreak of Clostridium difficile Ribotype 027 Associated with Length of Stay in the Intensive Care Unit and Use of Selective Decontamination of the Digestive Tract: A Case Control Study. ICU, LOS, SDD
427  2016 An outbreak of high-level azithromycin resistant Neisseria gonorrhoeae in England. HL-AziR, MICs, NG-MAST
428  2016 An ultra-dense library resource for rapid deconvolution of mutations that cause phenotypes in Escherichia coli. ---
429  2016 Application of Whole-Genome Sequencing Data for O-Specific Antigen Analysis and In Silico Serotyping of Pseudomonas aeruginosa Isolates. OSA, PAst
430  2016 Are physicians prepared for whole genome sequencing? a qualitative analysis. PCPs
431  2016 Assessment of Epstein-Barr virus nucleic acids in gastric but not in breast cancer by next-generation sequencing of pooled Mexican samples. EBV, GC
432  2016 Authentication and characterisation of a new oesophageal adenocarcinoma cell line: MFD-1. ATAC-seq, OAC
433  2016 Best approaches to drug-resistance surveillance at the country level. MDR-TB, Mtb, NGS, TB, WHO
434  2016 Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. ---
435  2016 Brevibacterium massiliense (Roux and Raoult 2009) is a later heterotypic synonym of Brevibacterium ravenspurgense (Mages, Frodl, Bernard and Funke 2009), using whole-genome sequence analysis as a comparative tool. ANIb
436  2016 Carbapenem-Resistant Enterobacteriaceae Transmission in Health Care Facilities - Wisconsin, February-May 2015. CRE, PCR, PFGE, WDPH, WSLH
437  2016 Clinical detection of deletion structural variants in whole-genome sequences. ---
438  2016 Clinical sequencing: is WGS the better WES? WES
439  2016 Clinical use of whole genome sequencing for Mycobacterium tuberculosis. MDR-TB, TB, XDR-TB
440  2016 Colistin and tigecycline resistance in carbapenemase-producing Gram-negative bacteria: emerging resistance mechanisms and detection methods. ---
441  2016 Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis. GWAS, VEGFR2
442  2016 Comparative Genome Analysis of Extended-Spectrum-beta-Lactamase-Producing Escherichia coli Sequence Type 131 Strains from Nepal and Japan. ESBL, ST131
443  2016 Comparative Genomics of Community-Associated Methicillin-Resistant Staphylococcus aureus Shows the Emergence of Clone ST8-USA300 in Geneva, Switzerland. ACME, CA-MRSA
444  2016 Comparative genomics of European avian pathogenic E. Coli (APEC). AMR, APEC, MLST, PCRs, UK
445  2016 Comparison of inferred relatedness based on multilocus variable-number tandem-repeat analysis and whole genome sequencing of Vibrio cholerae O1. MLVA
446  2016 Comparison of Phenotypic and Genotypic Approaches to Capsule Typing of Neisseria meningitidis by Use of Invasive and Carriage Isolate Collections. IMD, MnB, RT-PCR
447  2016 Comparison of Sample Preparation Methods Used for the Next-Generation Sequencing of Mycobacterium tuberculosis. Mtb, NGS
448  2016 Comparison of whole genome sequencing typing results and epidemiological contact information from outbreaks of Salmonella Dublin in Swedish cattle herds. S. Dublin
449  2016 Comprehensive Phylogenetic Analysis of Bovine Non-aureus Staphylococci Species Based on Whole-Genome Sequencing. NAS
450  2016 Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle. PLT, RBC
451  2016 Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. ADMER
452  2016 Construction of a Pan-Genome Allele Database of Salmonella enterica Serovar Enteritidis for Molecular Subtyping and Disease Cluster Identification. wgMLST
453  2016 Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies. DTC, GT, IC, IFs, WES
454  2016 Copy number variations of HLA-I and activation of NKp30 pathway determine the sensitivity of gastric cancer cells to the cytotoxicity of natural killer cells. GC, IL-2, NK
455  2016 Corynebacterium lowii sp. nov. and Corynebacterium oculi sp. nov., derived from human clinical disease and an emended description of Corynebacterium mastitidis. ---
456  2016 CRISPR-Based Typing and Next-Generation Tracking Technologies. PFGE
457  2016 Deciphering the Resistome of the Widespread Pseudomonas aeruginosa Sequence Type 175 International High-Risk Clone through Whole-Genome Sequencing. ST175, XDR
458  2016 Deep Whole-Genome Sequencing to Detect Mixed Infection of Mycobacterium tuberculosis. Mtb, SNVs, TB
459  2016 Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. HSP
460  2016 Detailed Characterization of Human Induced Pluripotent Stem Cells Manufactured for Therapeutic Applications. iPSC, MCB, SNP
461  2016 Detecting Staphylococcus aureus Virulence and Resistance Genes: a Comparison of Whole-Genome Sequencing and DNA Microarray Technology. ---
462  2016 Detection, Characterization, and Typing of Shiga Toxin-Producing Escherichia coli. EIA, ProvLab, qPCR, STEC
463  2016 Determining Streptococcus suis serotype from short-read whole-genome sequencing data. CPS, SRA
464  2016 Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public. ---
465  2016 Development and validation of cross-transferable and polymorphic DNA markers for detecting alien genome introgression in Oryza sativa from Oryza brachyantha. MAAL, STMS
466  2016 Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. ICCs, WES
467  2016 Distribution of Bexsero Antigen Sequence Types (BASTs) in invasive meningococcal disease isolates: Implications for immunisation. BAST, BASTs, CC, IMD, MRF-MGL
468  2016 Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review. ACMG, ICER
469  2016 Emergence and spread of moxifloxacin-resistant Clostridium difficile ribotype 231 in Sweden between 2006 and 2015. RT231
470  2016 Enhanced Tracking of Nosocomial Transmission of Endemic Sequence Type 22 Methicillin-Resistant Staphylococcus aureus Type IV Isolates among Patients and Environmental Sites by Use of Whole-Genome Sequencing. CTEs
471  2016 Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. AGBL5, arRP, IRD
472  2016 Ethical issues in consumer genome sequencing: Use of consumers' samples and data. DTC, GT, WES
473  2016 Evaluation of an Optimal Epidemiological Typing Scheme for Legionella pneumophila with Whole-Genome Sequence Data Using Validation Guidelines. ESGLI, MLST, SBT, SNP, STs
474  2016 Evaluation of Molecular Methods for Serotyping Shigella flexneri. ---
475  2016 Evaluation of resistance acquisition during tuberculosis treatment using whole genome sequencing. DR, LPAs, TB
476  2016 Evolution of Pseudomonas aeruginosa Antimicrobial Resistance and Fitness under Low and High Mutation Rates. gyrA, PBP3, QRDR
477  2016 Examination of Mycobacterium avium subspecies paratuberculosis mixed genotype infections in dairy animals using a whole genome sequencing approach. MAP, ML-SSR, SNP
478  2016 Exploiting Bacterial Whole-Genome Sequencing Data for Evaluation of Diagnostic Assays: Campylobacter Species Identification as a Case Study. RT-PCR
479  2016 FDA Escherichia coli Identification (FDA-ECID) Microarray: a Pangenome Molecular Toolbox for Serotyping, Virulence Profiling, Molecular Epidemiology, and Phylogeny. FDA-ECID, SNPs
480  2016 Finishing monkeypox genomes from short reads: assembly analysis and a neural network method. ---
481  2016 First Occurrence of OXA-72-Producing Acinetobacter baumannii in Serbia. WWCII
482  2016 Fluoroquinolone Resistance among Clonal Complex 1 Group B Streptococcus Strains. ---
483  2016 GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes. CGH, CNAs
484  2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. DNMs, WES
485  2016 Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology. LGNTs
486  2016 Genetic association analysis based on a joint model of gene expression and blood pressure. BP, GAW, GE, SNVs
487  2016 Genetic characterization of Australian Mycoplasma bovis isolates through whole genome sequencing analysis. SNP, VFDB, Vsp
488  2016 Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors. ---
489  2016 Genetic features of livestock-associated Staphylococcus aureus ST9 isolates from Chinese pigs that carry the lsa(E) gene for quinupristin/dalfopristin resistance. ---
490  2016 Genome sequencing and annotation of a Campylobacter coli strain isolated from milk with multidrug resistance. ---
491  2016 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. CNV, SNV, WES
492  2016 Genome-based study of a spatio-temporal cluster of invasive meningococcal disease due to Neisseria meningitidis serogroup C, clonal complex 11. cc11, IMD, ISS
493  2016 Genome-Wide Association Study of HIV Whole Genome Sequences Validated using Drug Resistance. DR, GWAS
494  2016 Genome-wide characteristics of de novo mutations in autism. ASD, CNVs, DNMs
495  2016 Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. ADG
496  2016 Genomic analyses of Neisseria gonorrhoeae reveal an association of the gonococcal genetic island with antimicrobial resistance. AMR, GGI, wgMLST
497  2016 Genomic Analysis Reveals Novel Diversity among the 1976 Philadelphia Legionnaires' Disease Outbreak Isolates and Additional ST36 Strains. LD
498  2016 Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders. gCJD, GO, IPDs, NDs, V180I
499  2016 Genomic Characterization of Colistin Heteroresistance in Klebsiella pneumoniae during a Nosocomial Outbreak. ESBL, ICU, PAPs, SDD
500  2016 Genomic characterization of the Atlantic cod sex-locus. LG
501  2016 Genomic epidemiology of Lineage 4 Mycobacterium tuberculosis subpopulations in New York City and New Jersey, 1999-2009. ---
502  2016 Genomic Epidemiology of USA300 Methicillin-Resistant Staphylococcus aureus in an Urban Community. MRSA, SNVs
503  2016 Genomic Epidemiology: Whole-Genome-Sequencing-Powered Surveillance and Outbreak Investigation of Foodborne Bacterial Pathogens. NGS
504  2016 Genomic insights from whole genome sequencing of four clonal outbreak Campylobacter jejuni assessed within the global C. jejuni population. cgMLST, hqSNV, ST21
505  2016 Genomic Recombination Leading to Decreased Virulence of Group B Streptococcus in a Mouse Model of Adult Invasive Disease. GBS, ST
506  2016 Genomic Resolution of Outbreak-Associated Legionella pneumophila Serogroup 1 Isolates from New York State. PFGE, SNPs, ST, wgMLST
507  2016 Global epidemiology of capsular group W meningococcal disease (1970-2015): Multifocal emergence and persistence of hypervirulent sequence type (ST)-11 clonal complex. IMD, ST
508  2016 Global Genomic Epidemiology of Salmonella enterica Serovar Typhimurium DT104. CI, MDR DT104, SGI1
509  2016 Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. ESP, WES
510  2016 Hand soap contamination by Pseudomonas aeruginosa in a tertiary care hospital: no evidence of impact on patients. DLST
511  2016 High Prevalence of ESBL-Producing Klebsiella pneumoniae Causing Community-Onset Infections in China. ESBL-KP, hvKP, MLST, STs
512  2016 HIV-1 Integrates Widely throughout the Genome of the Human Blood Fluke Schistosoma mansoni. ---
513  2016 Household Clustering of Escherichia coli Sequence Type 131 Clinical and Fecal Isolates According to Whole Genome Sequence Analysis. ST131
514  2016 How should whole-genome sequencing be implemented in children? A consideration of the current limitations. ---
515  2016 Identification of Genomic Insertion and Flanking Sequence of G2-EPSPS and GAT Transgenes in Soybean Using Whole Genome Sequencing Method. GMO
516  2016 Identification of Salmonella for public health surveillance using whole genome sequencing. MLST, ST
517  2016 Impact of Genetic Diversity on the Biology of Mycobacterium tuberculosis Complex Strains. MDR, TB, XDR
518  2016 Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project. DCS, SDS
519  2016 Impact of SNPs on CpG Islands in the MYC and HRAS oncogenes and in a wide variety of tumor suppressor genes: A multi-cancer approach. SNPs
520  2016 Implementation of Nationwide Real-time Whole-genome Sequencing to Enhance Listeriosis Outbreak Detection and Investigation. LM, PFGE
521  2016 Implementation of Whole Genome Sequencing (WGS) for Identification and Characterization of Shiga Toxin-Producing Escherichia coli (STEC) in the United States. CGE, STEC
522  2016 Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study. ---
523  2016 In silico serotyping of E. coli from short read data identifies limited novel O-loci but extensive diversity of O:H serotype combinations within and between pathogenic lineages. ---
524  2016 Inactivation of RASA1 promotes melanoma tumorigenesis via R-Ras activation. r-ras, RasGAPs, TMA
525  2016 Incorporating ENCODE information into association analysis of whole genome sequencing data. ENCODE
526  2016 Increased expression of efflux pump genes in extensively drug-resistant isolates of Mycobacterium tuberculosis. DS, MDR, Mtb, SNPs, TB, XDR-TB
527  2016 Inferring Strain Mixture within Clinical Plasmodium falciparum Isolates from Genomic Sequence Data. ---
528  2016 Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. BCC, OR, SINE-VNTR-Alu
529  2016 Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease. ADNI, CSF, EOAD, LOAD, SKAT-O
530  2016 Interpreting whole genome sequencing for investigating tuberculosis transmission: a systematic review. TB
531  2016 Interspecies Dissemination of a Mobilizable Plasmid Harboring blaIMP-19 and the Possibility of Horizontal Gene Transfer in a Single Patient. ---
532  2016 Investigation of a suspected nosocomial transmission of blaKPC3-mediated carbapenem-resistant Klebsiella pneumoniae by whole genome sequencing. PFGE
533  2016 Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. MAFs, WES
534  2016 Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing. NGS, TGP, WES
535  2016 Joint detection of copy number variations in parent-offspring trios. CNVs
536  2016 Laboratory Investigation of Salmonella enterica serovar Poona Outbreak in California: Comparison of Pulsed-Field Gel Electrophoresis (PFGE) and Whole Genome Sequencing (WGS) Results. PFGE
537  2016 Lessons for livestock genomics from genome and transcriptome sequencing in cattle and other mammals. ---
538  2016 Listeria monocytogenes in Stone Fruits Linked to a Multistate Outbreak: Enumeration of Cells and Whole-Genome Sequencing. PFGE, SNP, ST382
539  2016 Livestock-Associated Methicillin Resistant Staphylococcus aureus (LA-MRSA) Clonal Complex (CC) 398 Isolated from UK Animals belong to European Lineages. AMR, CC, LA-MRSA, spa
540  2016 Longitudinal analytical approaches to genetic data. GAW19, GEEs, GWA, LCGM, LME, SBP, VC
541  2016 Medical implications of technical accuracy in genome sequencing. WES
542  2016 Methanol-based fixation is superior to buffered formalin for next-generation sequencing of DNA from clinical cancer samples. NBF, NGS
543  2016 Mining metagenomic whole genome sequences revealed subdominant but constant Lactobacillus population in the human gut microbiota. GIT
544  2016 Mining metagenomic whole genome sequences revealed subdominant but constant Lactobacillus population in the human gut microbiota. GIT
545  2016 MLST and Whole-Genome-Based Population Analysis of Cryptococcus gattii VGIII Links Clinical, Veterinary and Environmental Strains, and Reveals Divergent Serotype Specific Sub-populations and Distant Ancestors. MLST
546  2016 Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines. CGH, DFs, dNS method, iPSCs, LCLs, LiPSCs
547  2016 Molecular characterisation of the clonal emergence of high-level ciprofloxacin-monoresistant Haemophilus influenzae in the Region of Southern Denmark. MIC
548  2016 Molecular Characterization of Human Atypical Sorbitol-Fermenting Enteropathogenic Escherichia coli O157 Reveals High Diversity. EHEC, HUS, HUSEC, MLST, stx
549  2016 Molecular Characterization of Salmonella Serovars Anatum and Ealing Associated with Two Historical Outbreaks, Linked to Contaminated Powdered Infant Formula. PFGE, PIF
550  2016 Molecular epidemiology, phylogeny and evolution of Legionella. LD, MGE
551  2016 Molecular Pathogenesis of Diffuse Large B-Cell Lymphoma. ABC, BCR, DLBCL, GCB, WES
552  2016 MOST: a modified MLST typing tool based on short read sequencing. MLST, PCR, PHE
553  2016 Mutational Profiles Reveal an Aberrant TGF-beta-CEA Regulated Pathway in Colon Adenomas. ---
554  2016 Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance. EAC, RTKi, RTKs
555  2016 Mutations in AGBL5, Encoding alpha-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. arRP, WES
556  2016 NASP: an accurate, rapid method for the identification of SNPs in WGS datasets that supports flexible input and output formats. SNPs
557  2016 Navigating Microbiological Food Safety in the Era of Whole-Genome Sequencing. SNP
558  2016 New Mycobacterium tuberculosis LAM sublineage with geographical specificity for the Old World revealed by phylogenetical and Bayesian analyses. ---
559  2016 Next generation sequencing for whole genome analysis and surveillance of influenza A viruses. NGS, NYSDOH
560  2016 Next-generation sequencing in NSCLC and melanoma patients: a cost and budget impact analysis. ABC, BIA, NGS, NSCLC, TGP
561  2016 NGMASTER:in silico multi-antigen sequence typing for Neisseria gonorrhoeae. ---
562  2016 Novel BCR-ABL1 fusion and leukemic mutations of SETBP1, PAX5, and TP53 detected by next generation sequencing in chronic myeloid leukemia. CML, FISH, NGS, Ph, TKI
563  2016 Novel HDAd/EBV Reprogramming Vector and Highly Efficient Ad/CRISPR-Cas Sickle Cell Disease Gene Correction. iPSCs, SCD, ssODN
564  2016 Observations on macrolide resistance and susceptibility testing performance in field isolates collected from clinical bovine respiratory disease cases. BRD
565  2016 Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing. NBS
566  2016 Participants and Study Decliners' Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing. ELSI
567  2016 Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records. ---
568  2016 Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. ---
569  2016 PGAdb-builder: A web service tool for creating pan-genome allele database for molecular fine typing. PGAdb, wgMLST
570  2016 Phylogenetic structure of European Salmonella Enteritidis outbreak correlates with national and international egg distribution network. ---
571  2016 Phylogenomic exploration of the relationships between strains of Mycobacterium avium subspecies paratuberculosis. MAP, MIRU-VNTR, SNP
572  2016 Phylogeographic analysis of hemorrhagic fever with renal syndrome patients using multiplex PCR-based next generation sequencing. HFRS, HPS, HTNV, NGS
573  2016 Physiological, genomic and transcriptional diversity in responses to boron deficiency in rapeseed genotypes. ABC, DGE, DH
574  2016 Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. AR, NICHD, NIGMS, qRT-PCR, SNP
575  2016 Population and Functional Genomics of Neisseria Revealed with Gene-by-Gene Approaches. ---
576  2016 Population structure and minimum core genome typing of Legionella pneumophila. MCG, SBT, SNPs
577  2016 Populations of latent Mycobacterium tuberculosis lack a cell wall: Isolation, visualization, and whole-genome characterization. Mtb, TB
578  2016 Prediction of Putative Resistance Islands in a Carbapenem-Resistant Acinetobacter baumannii Global Clone 2 Clinical Isolate. GC2, PRIs, ST
579  2016 Prospective Whole-Genome Sequencing Enhances National Surveillance of Listeria monocytogenes. MLST, MLVA, PFGE
580  2016 Quantification of read species behavior within whole genome sequencing of cancer genomes for the stratification and visualization of genomic variation. NB
581  2016 Quantitative trait association study for mean telomere length in the South Asian genomes. GWA, MTL
582  2016 Rapid characterisation of Klebsiella oxytoca isolates from contaminated liquid hand soap using mass spectrometry, FTIR and Raman spectroscopy. FTIR, MALDI-TOF MS, MLST, NIR FT, PFGE, SNP
583  2016 Rapid identification of causative insertions underlying Medicago truncatula Tnt1 mutants defective in symbiotic nitrogen fixation from a forward genetic screen by whole genome sequencing. FSTs, NIN, PLC, SNF, TAIL-PCR
584  2016 Rapid, comprehensive, and affordable mycobacterial diagnosis with whole-genome sequencing: a prospective study. MTBC
585  2016 Real time application of whole genome sequencing for outbreak investigation - What is an achievable turnaround time? SNP, TAT, VRE
586  2016 Real-Time Genome Sequencing of Resistant Bacteria Provides Precision Infection Control in an Institutional Setting. MDR, MRSA, TAT
587  2016 Recent "omics" advances in Helicobacter pylori. ---
588  2016 Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology. ASD, WES
589  2016 Recent developments in genomics, bioinformatics and drug discovery to combat emerging drug-resistant tuberculosis. DR-TB, M. tuberculosis
590  2016 Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. CAGE, FAP
591  2016 Reducing animal sequencing redundancy by preferentially selecting animals with low-frequency haplotypes. IWS
592  2016 Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. FAF, OCT
593  2016 Retrospective identification of a previously undetected clinical case of OXA-48-producing K. pneumoniae and E. coli: the importance of adequate detection guidelines. BRIG
594  2016 Rise in invasive serogroup W meningococcal disease in Australia 2013-2015. IMD
595  2016 Sarcococca Blight: Use of Whole-Genome Sequencing for Fungal Plant Disease Diagnosis. ---
596  2016 Selective Amplification of the Genome Surrounding Key Placental Genes in Trophoblast Giant Cells. CLec, ddPCR, NK, p-TGCs
597  2016 SMASH, a fragmentation and sequencing method for genomic copy number analysis. CMA, CNVs, MAMs
598  2016 Smooth-Threshold Multivariate Genetic Prediction with Unbiased Model Selection. ADNI, GBLUP, GDF, GWASs, SNPs, SURE
599  2016 SSTAR, a Stand-Alone Easy-To-Use Antimicrobial Resistance Gene Predictor. AR
600  2016 Standard Genotyping Overestimates Transmission of Mycobacterium tuberculosis among Immigrants in a Low-Incidence Country. CI, MIRU-VNTR, SNPs, TB
601  2016 Strain features and distributions in pneumococci from children with invasive disease before and after 13-valent conjugate vaccine implementation in the USA. IPD, PBPs
602  2016 T24 HRAS transformed NIH/3T3 mouse cells (GhrasT-NIH/3T3) in serial tumorigenic in vitro/in vivo passages give rise to increasingly aggressive tumorigenic cell lines T1-A and T2-A and metastatic cell lines T3-HA and T4-PA. SKY
603  2016 Taxonomic reassessment of the genus Elizabethkingia using whole-genome sequencing: Elizabethkingia endophytica Kampfer et al. 2015 is a later subjective synonym of Elizabethkingia anophelis Kampfer et al. 2011. ---
604  2016 TCGA Expedition: A Data Acquisition and Management System for TCGA Data. PGRR
605  2016 Temporal Changes in BEXSERO Antigen Sequence Type Associated with Genetic Lineages of Neisseria meningitidis over a 15-Year Period in Western Australia. BAST, CC, IMD, MATS, ST
606  2016 The challenge of consent in clinical genome-wide testing. aCGH, WE
607  2016 The differential importance of mutations within AmpD in cephalosporin resistance of Enterobacter aerogenes and Enterobacter cloacae. ---
608  2016 The Effects of Signal Erosion and Core Genome Reduction on the Identification of Diagnostic Markers. ---
609  2016 The Future of Whole-Genome Sequencing for Public Health and the Clinic. ASM
610  2016 The implications of whole-genome sequencing in the control of tuberculosis. TB
611  2016 The Molecular and Spatial Epidemiology of Typhoid Fever in Rural Cambodia. AHC
612  2016 The Salmonella In Silico Typing Resource (SISTR): An Open Web-Accessible Tool for Rapidly Typing and Subtyping Draft Salmonella Genome Assemblies. cgMLST, MLST, rMLST, SISTR
613  2016 The Stealthy Superbug: the Role of Asymptomatic Enteric Carriage in Maintaining a Long-Term Hospital Outbreak of ST228 Methicillin-Resistant Staphylococcus aureus. MRSA, ST228
614  2016 Tracing Mycobacterium tuberculosis transmission by whole genome sequencing in a high incidence setting: a retrospective population-based study in East Greenland. Mtb, TB
615  2016 Tracing Origins of the Salmonella Bareilly Strain Causing a Food-borne Outbreak in the United States. ---
616  2016 Transcriptomics-assisted quantitative trait locus fine mapping for the rapid identification of a nodulin 26-like intrinsic protein gene regulating boron efficiency in allotetraploid rapeseed. BSA, DGE, NILs, NIP, QTGs, QTL
617  2016 Transmission of methicillin-resistant Staphylococcus aureus in long-term care facilities and their related healthcare networks. LTCF, MRSA, ST
618  2016 Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing. NGS
619  2016 Unprecedented Melioidosis Cases in Northern Australia Caused by an Asian Burkholderia pseudomallei Strain Identified by Using Large-Scale Comparative Genomics. ST562
620  2016 Unveiling the molecular basis of antimicrobial resistance in Staphylococcus aureus from the Democratic Republic of the Congo using whole genome sequencing. DRC, MRSA, OS-MRSA
621  2016 Urgent Implementation in a Hospital Setting of a Strategy To Rule Out Secondary Cases Caused by Imported Extensively Drug-Resistant Mycobacterium tuberculosis Strains at Diagnosis. SNPs, TB, XDR
622  2016 Use of bacterial whole-genome sequencing to investigate local persistence and spread in bovine tuberculosis. ---
623  2016 Use of bacterial whole-genome sequencing to understand and improve the management of invasive Staphylococcus aureus infections. ---
624  2016 Use of microsatellite markers for the assessment of bambara groundnut breeding system and varietal purity before genome sequencing. ---
625  2016 Use of nrdA gene sequence clustering to estimate the prevalence of different Achromobacter species among Cystic Fibrosis patients in the UK. CF
626  2016 Use of WGS in Mycobacterium tuberculosis routine diagnosis. TB
627  2016 Usefulness of High-Quality Core Genome Single-Nucleotide Variant Analysis for Subtyping the Highly Clonal and the Most Prevalent Salmonella enterica Serovar Heidelberg Clone in the Context of Outbreak Investigations. hqSNV, PFGE, SNVphyl
628  2016 Using diverse U.S. beef cattle genomes to identify missense mutations in EPAS1, a gene associated with pulmonary hypertension. EPAS1
629  2016 Using whole genome sequencing to identify resistance determinants and predict antimicrobial resistance phenotypes for year 2015 invasive pneumococcal disease isolates recovered in the United States. BDT
630  2016 Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. NGS, WES
631  2016 Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. NBS
632  2016 Utility of Whole-Genome Sequencing in Characterizing Acinetobacter Epidemiology and Analyzing Hospital Outbreaks. CRAB, MLST, SNPs
633  2016 Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. 22q11.2DS, BCRP, Mb
634  2016 Varibaculum anthropi sp. nov. represented by three genetically different genomovars isolated from clinical material and emended description of the genus Varibaculum. ANI, isDDH, MLSA
635  2016 Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation. ---
636  2016 Virulence Gene Profiles and Clonal Relationships of Escherichia coli O26:H11 Isolates from Feedlot Cattle as Determined by Whole-Genome Sequencing. EHEC, EPEC, LEE, ST29, STEC, Stx, wgMLST
637  2016 What are people willing to pay for whole-genome sequencing information, and who decides what they receive? CI
638  2016 WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data. ACMG, API, VEP, WHATIF
639  2016 Whole genome analysis of Mycobacterium tuberculosis isolates from recurrent episodes of tuberculosis, Finland, 1995-2013. TB
640  2016 Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms. NGS, TPP, WES
641  2016 Whole genome and normalized mRNA sequencing reveal genetic status of TK6, WTK1, and NH32 human B-lymphoblastoid cell lines. NQO1, SNPs, TPMT
642  2016 Whole Genome DNA Sequence Analysis of Salmonella subspecies enterica serotype Tennessee obtained from related peanut butter foodborne outbreaks. S. Tennessee, SNP
643  2016 Whole Genome Sequence Analysis of a Large Isoniazid-Resistant Tuberculosis Outbreak in London: A Retrospective Observational Study. SNPs, VNTR
644  2016 Whole genome sequence to decipher the resistome of Shewanella algae, a multidrug-resistant bacterium responsible for pneumonia, Marseille, France. ---
645  2016 Whole genome sequence-based serogrouping of Listeria monocytogenes isolates. MLST, MLVA, MST, MVLST, NJ, NRLs, PFGE
646  2016 Whole genome sequencing as the ultimate tool to diagnose tuberculosis. TB, VNTR
647  2016 Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. CMA, CNVs, SNV
648  2016 Whole Genome Sequencing for Genomics-Guided Investigations of Escherichia coli O157:H7 Outbreaks. SNP
649  2016 Whole Genome Sequencing for Public Health Surveillance of Shiga Toxin-Producing Escherichia coli Other than Serogroup O157. STEC
650  2016 Whole genome sequencing identified new somatic mutations for chronic myelomonocytic leukemia. CMML
651  2016 Whole genome sequencing improved case ascertainment in an outbreak of Shiga toxin-producing Escherichia coli O157 associated with raw drinking milk. PT, RDM
652  2016 Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. LCA
653  2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. IRD, NGS, SNVs
654  2016 Whole genome sequencing of Mycobacterium tuberculosis for detection of recent transmission and tracing outbreaks: A systematic review. TB
655  2016 Whole genome sequencing of Salmonella Typhimurium illuminates distinct outbreaks caused by an endemic multi-locus variable number tandem repeat analysis type in Australia, 2014. SNP, STM
656  2016 Whole genome sequencing of Streptococcus pneumoniae: development, evaluation and verification of targets for serogroup and serotype prediction using an automated pipeline. cps, NRL
657  2016 Whole genome sequencing provides an unambiguous link between Salmonella Dublin outbreak strain and a historical isolate. PFGE
658  2016 Whole genome sequencing to complement tuberculosis drug resistance surveys in Uganda. DRSs, DST
659  2016 Whole-genome characterization in pedigreed non-human primates using genotyping-by-sequencing (GBS) and imputation. GBS, GIGI, SNV
660  2016 Whole-Genome Multilocus Sequence Typing of Extended-Spectrum-Beta-Lactamase-Producing Enterobacteriaceae. ESBL-E, wgMLST
661  2016 Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs. NBS
662  2016 Whole-genome sequence data uncover loss of genetic diversity due to selection. OC
663  2016 Whole-genome sequence, SNP chips and pedigree structure: building demographic profiles in domestic dog breeds to optimize genetic-trait mapping. GWAS
664  2016 Whole-Genome Sequencing Analysis Accurately Predicts Antimicrobial Resistance Phenotypes in Campylobacter spp. ---
665  2016 Whole-Genome Sequencing Analysis of Serially Isolated Multi-Drug and Extensively Drug Resistant Mycobacterium tuberculosis from Thai Patients. MDR and XDR-TB
666  2016 Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges. ---
667  2016 Whole-genome sequencing as standard practice for the analysis of clonality in outbreaks of meticillin-resistant Staphylococcus aureus in a paediatric setting. MRSA
668  2016 Whole-Genome Sequencing for Detecting Antimicrobial Resistance in Nontyphoidal Salmonella. ESBLs, NARMS
669  2016 Whole-Genome Sequencing for Routine Pathogen Surveillance in Public Health: a Population Snapshot of Invasive Staphylococcus aureus in Europe. ---
670  2016 Whole-genome Sequencing for Surveillance of Invasive Pneumococcal Diseases in Ontario, Canada: Rapid Prediction of Genotype, Antibiotic Resistance and Characterization of Emerging Serotype 22F. ---
671  2016 Whole-Genome Sequencing for the Investigation of a Hospital Outbreak of MRSA in China. MRSA, SNPs
672  2016 Whole-genome sequencing in French Canadians from Quebec. GWAS, MAF
673  2016 Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. GWAS, HFH, SNVs
674  2016 Whole-genome sequencing of multidrug-resistant Mycobacterium tuberculosis isolates from Myanmar. DST, MDR-TB, TB
675  2016 Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. ADPKD
676  2016 Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma. BFB, ESCC, SVs, WGD
677  2016 Whole-genome sequencing reveals transmission of vancomycin-resistant Enterococcus faecium in a healthcare network. CUH, LTCF, SNPs, UK, VRE
678  2016 Whole-genome Sequencing Used to Investigate a Nationwide Outbreak of Listeriosis Caused by Ready-to-eat Delicatessen Meat, Denmark, 2014. SNP
679  2016 Within- and across-breed genomic prediction using whole-genome sequence and single nucleotide polymorphism panels. QTL, SNPs
680  2016 Within-Host Evolution of the Dutch High-Prevalent Pseudomonas aeruginosa Clone ST406 during Chronic Colonization of a Patient with Cystic Fibrosis. CF, SNPs
681  2016 XDR-TB transmission in London: Case management and contact tracing investigation assisted by early whole genome sequencing. DST, Mtb, XDR-TB
682  2016 Young adults' attitudes toward pediatric whole-genome sequencing. ---
683  2017 3D genome of multiple myeloma reveals spatial genome disorganization associated with copy number variations. CNVs, MM, TAD
684  2017 A bioinformatics tool for ensuring the backwards compatibility of Legionella pneumophila typing in the genomic era. STs
685  2017 A clade of Listeria monocytogenes serotype 4b variant strains linked to recent listeriosis outbreaks associated with produce from a defined geographic region in the US. 4bV
686  2017 A Comparative Analysis of the Lyve-SET Phylogenomics Pipeline for Genomic Epidemiology of Foodborne Pathogens. SNPs, wgMLST
687  2017 A comparison of extended spectrum beta-lactamase producing Escherichia coli from clinical, recreational water and wastewater samples associated in time and location. ESBL-EC, MLVA
688  2017 A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. FLNC, ILK, PTPN11
689  2017 A Cross-Sectional Study of Colonization Rates with Methicillin-Resistant Staphylococcus aureus (MRSA) and Extended-Spectrum Beta-Lactamase (ESBL) and Carbapenemase-Producing Enterobacteriaceae in Four Swiss Refugee Centres. ESBL, MDR, MRSA
690  2017 A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. USH1
691  2017 A generalized association test based on U statistics. GSU
692  2017 A Geographically Widespread Outbreak Investigation and Development of a Rapid Screening Method Using Whole Genome Sequences of Enterohemorrhagic Escherichia coli O121. PFGE, SNP
693  2017 A high-throughput molecular data resource for cutaneous neurofibromas. NF1
694  2017 A joint cross-border investigation of a cluster of multidrug-resistant tuberculosis in Austria, Romania and Germany in 2014 using classic, genotyping and whole genome sequencing methods: lessons learnt. MDR-TB
695  2017 A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. ASD, CMA
696  2017 A novel strategy based on genomics and specific PCR reveals how amultidrug-resistant Mycobacterium tuberculosis strain became prevalent in Equatorial Guinea 15 years after its emergence. MDR, TB
697  2017 A novel strategy for clustering major depression individuals using whole-genome sequencing variant data. MDD
698  2017 A Population Genomics Approach to Assessing the Genetic Basis of Within-Host Microevolution Underlying Recurrent Cryptococcal Meningitis Infection. CM
699  2017 A population-specific reference panel empowers genetic studies of Anabaptist populations. AGRP
700  2017 A practical guide to build de-novo assemblies for single tissues of non-model organisms: the example of a Neotropical frog. ---
701  2017 A Prolonged Outbreak of KPC-3-Producing Enterobacter cloacae and Klebsiella pneumoniae Driven by Multiple Mechanisms of Resistance Transmission at a Large Academic Burn Center. CRE, KPC, ST114
702  2017 A strategy to improve phasing of whole-genome sequenced individuals through integration of familial information from dense genotype panels. LD, SNPs
703  2017 A Whole-Genome Sequencing Approach To Study Cefoxitin-Resistant Salmonella enterica Serovar Heidelberg Isolates from Various Sources. CIPARS, PFGE, SNVs
704  2017 Adaptive evolution and segregating load contribute to the genomic landscape of divergence in two tree species connected by episodic gene flow. DoS, RI, SFS, SNPs
705  2017 An Assessment of Different Genomic Approaches for Inferring Phylogeny of Listeria monocytogenes. cgMLST, MLPPST, SNP, wgMLST
706  2017 An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs. PRA
707  2017 Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness. ACSL4, GWAS, IGSF1, IRS-4, Mb, SBW, SNP
708  2017 Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families. GWAS, WES
709  2017 Analysis of Serial Isolates of mcr-1-Positive Escherichia coli Reveals a Highly Active ISApl1 Transposon. ---
710  2017 Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss. HL, WES
711  2017 Application of whole genome sequence analysis to the study of Mycobacterium tuberculosis in Nunavut, Canada. MIRU, TB, VNTR
712  2017 Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. GPCR, SCNA
713  2017 Assessing the genome level diversity of Listeria monocytogenes from contaminated ice cream and environmental samples linked to a listeriosis outbreak in the United States. CC5, MLST, PFGE, SNP, ST
714  2017 Assessing the heterogeneity of in silico plasmid predictions based on whole-genome-sequenced clinical isolates. ---
715  2017 Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease. ADNI, CSF, LOAD, MAF, SKAT-O
716  2017 Bacterial genome sequencing in clinical microbiology: a pathogen-oriented review. ---
717  2017 Bacterial whole genome-based phylogeny: construction of a new benchmarking dataset and assessment of some existing methods. ---
718  2017 Bacteriology and treatment of infections in the upper and lower airways in patients with primary ciliary dyskinesia: adressing the paranasal sinuses. CF, CRS, ESS, GNB, MCC, PCD, PFGE, QOL
719  2017 Bayesian population structure analysis reveals presence of phylogeographically specific sublineages within previously ill-defined T group of Mycobacterium tuberculosis. ---
720  2017 Burkholderia stabilis outbreak associated with contaminated commercially-available washing gloves, Switzerland, May 2015 to August 2016. Bcc
721  2017 Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. CDN, CMA
722  2017 CEP78 is mutated in a distinct type of Usher syndrome. WES
723  2017 Challenges and opportunities for whole-genome sequencing-based surveillance of antibiotic resistance. ---
724  2017 Challenging a bioinformatic tool's ability to detect microbial contaminants using in silico whole genome sequencing data. PCR
725  2017 Characterization and Genetic Variation of Vibrio cholerae Isolated from Clinical and Environmental Sources in Thailand. MDR, MIC, MLST, PAIs, TTSS
726  2017 Characterization of Clostridium Baratii Type F Strains Responsible for an Outbreak of Botulism Linked to Beef Meat Consumption in France. BoNT
727  2017 Characterization of mobile genetic elements carrying VIM-1 and KPC-2 carbapenemases in Citrobacter freundii isolates in Madrid. CPCF, MLST, PFGE
728  2017 Characterization of the Salmonella enterica Serotype Isangi Isolated from Patients for the First Time in China. PFGE
729  2017 Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management. GLIA, MRI, WES
730  2017 Clinical and biological insights from viral genome sequencing. ---
731  2017 Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations. FISH, NGS
732  2017 Clinical streptococcal isolates, distinct from Streptococcus pneumoniae, but containing the beta-glucosyltransferase tts gene and expressing serotype 37 capsular polysaccharide. PLY
733  2017 Clonal or not clonal? Investigating hospital outbreaks of KPC-producing Klebsiella pneumoniae with whole-genome sequencing. ARGs
734  2017 Co-circulation of multiple subtypes of enterovirus A71 (EV- A71) genotype C, including novel recombinants characterised by use of whole genome sequencing (WGS), Denmark 2016. EV-A71, EVA71
735  2017 Community outbreaks of group A Streptococcus revealed by genome sequencing. GAS
736  2017 Comparative analysis of whole genome sequencing-based telomere length measurement techniques. ---
737  2017 Comparative Genomic Characterization of the Highly Persistent and Potentially Virulent Cronobacter sakazakii ST83, CC65 Strain H322 and Other ST83 Strains. CC, MA, PIF, ST
738  2017 Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma. WGA
739  2017 Comparison of Control of Clostridium difficile Infection in Six English Hospitals Using Whole-Genome Sequencing. CDI, CI
740  2017 Comparison of sequential multiplex PCR, sequetyping and whole genome sequencing for serotyping of Streptococcus pneumoniae. PCVs
741  2017 Comparison of Whole-Genome Sequencing Methods for Analysis of Three Methicillin-Resistant Staphylococcus aureus Outbreaks. cgMLST, PFGE
742  2017 Complete genetic analysis of a Salmonella enterica serovar Indiana isolate accompanying four plasmids carrying mcr-1, ESBL and other resistance genes in China. MDR, RAST, SPIs
743  2017 Complete Genome Sequence of the Temperate Klebsiella pneumoniae Phage KPP5665-2. ---
744  2017 Complete-genome sequencing elucidates outbreak dynamics of CA-MRSA USA300 (ST8-spa t008) in an academic hospital of Paramaribo, Republic of Suriname. cgMLST, MRSA, SNP, wgMLST
745  2017 Comprehensive bioinformatics analysis of Mycoplasma pneumoniae genomes to investigate underlying population structure and type-specific determinants. SNPs
746  2017 Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. ---
747  2017 Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. ID, SNV
748  2017 Comprehensive Whole-Genome Sequencing and Reporting of Drug Resistance Profiles on Clinical Cases of Mycobacterium tuberculosis in New York State. DST, MGIT, MTBC, TB
749  2017 Context Is Everything: Harmonization of Critical Food Microbiology Descriptors and Metadata for Improved Food Safety and Surveillance. FoodOn, GenEpiO
750  2017 Contribution to Clostridium Difficile Transmission of Symptomatic Patients With Toxigenic Strains Who Are Fecal Toxin Negative. GDH
751  2017 COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. COPA, gnomAD
752  2017 Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. CMA, CNV
753  2017 Core Genome Multilocus Sequence Typing Scheme for Stable, Comparative Analyses of Campylobacter jejuni and C. coli Human Disease Isolates. cgMLST, MLST
754  2017 Cost analysis of whole genome sequencing in German clinical practice. ---
755  2017 CRISPR/Cas9-mediated gene knockout screens and target identification via whole-genome sequencing uncover host genes required for picornavirus infection. sgRNAs
756  2017 Cross-border outbreak of listeriosis caused by cold-smoked salmon, revealed by integrated surveillance and whole genome sequencing (WGS), Denmark and France, 2015 to 2017. ---
757  2017 Cross-Species Y Chromosome Function Between Malaria Vectors of the Anopheles gambiae Species Complex. ---
758  2017 De novo assembly and annotation of the whole genomic analysis of Vibrio campbellii RT-1 strain, from infected shrimp: Litopenaeus vannamei. COGs, GO
759  2017 Decreased azithromycin susceptibility of Neisseria gonorrhoeae isolates in patients recently treated with azithromycin. MIC, MLST
760  2017 Decreased Azithromycin Susceptibility of Neisseria gonorrhoeae Isolates in Patients Recently Treated with Azithromycin. MIC, MLST, NG-MAST
761  2017 Defining a Core Genome Multilocus Sequence Typing Scheme for the Global Epidemiology of Vibrio parahaemolyticus. cgMLST, MLST, PFGE, ST3
762  2017 Defining Y-SNP variation among the Flemish population (Western Europe) by full genome sequencing. Y-SNPs
763  2017 Delineating the Origins of Vibrio parahaemolyticus Isolated from Outbreaks of Acute Hepatopancreatic Necrosis Disease in Asia by the Use of Whole Genome Sequencing. AHPND, SNPs
764  2017 Detection and molecular characterization of Livestock-Associated MRSA in raw meat on retail sale in North West England. CC, LA-MRSA
765  2017 Detection of long repeat expansions from PCR-free whole-genome sequence data. ALS, RP-PCR, STRs
766  2017 Detection of structural mosaicism from targeted and whole-genome sequencing data. WES
767  2017 Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants. EC, NGS, WES
768  2017 Development of a Medium Density Combined-Species SNP Array for Pacific and European Oysters (Crassostrea gigas and Ostrea edulis). IBS, LD, RAD-seq
769  2017 Development of a Web Tool for Escherichia coli Subtyping Based on fimH Alleles. MLST, ST131
770  2017 Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ANTXR2, HFS, ISH, JHF, NGS
771  2017 Differences in the population structure of Neisseria meningitidis in two Australian states: Victoria and Western Australia. BAST, CC, IMD
772  2017 Different Resistance Mechanisms for Cadazolid and Linezolid in Clostridium difficile Found by Whole-Genome Sequencing Analysis. CDZ, LZD
773  2017 Discovery of rare, diagnostic AluYb8/9 elements in diverse human populations. ---
774  2017 Diversity of Vibrio navarrensis Revealed by Genomic Comparison: Veterinary Isolates Are Related to Strains Associated with Human Illness and Sewage Isolates While Seawater Strains Are More Distant. SNP
775  2017 Draft genome sequence of a Kluyvera intermedia isolate from a patient with a pancreatic abscess. ---
776  2017 Draft genome sequence of an aminoglycoside-resistant RmtD2-producing Enterobacter cloacae subsp. cloacae ST395 in Brazil. ST395
777  2017 Emergence and clonal spread of colistin resistance due to multiple mutational mechanisms in carbapenemase-producing Klebsiella pneumoniae in London. CPE
778  2017 Emergence and Spread of Epidemic Multidrug-Resistant Pseudomonas aeruginosa. MDR, P. aeruginosa, ST
779  2017 Emergence of Ceftazidime-Avibactam Resistance Due to Plasmid-Borne blaKPC-3 Mutations during Treatment of Carbapenem-Resistant Klebsiella pneumoniae Infections. CRE, KPC
780  2017 Emergence of multidrug resistance in locally-acquired human infections with Salmonella Typhimurium in Australia owing to a new clade harbouring blaCTX-M-9. ---
781  2017 Epidemiological characterization of a nosocomial outbreak of extended spectrum beta-lactamase Escherichia coli ST-131 confirms the clinical value of core genome multilocus sequence typing. cg, MLST, SNP
782  2017 Epidemiology and whole genome sequencing of an ongoing point-source Salmonella Agona outbreak associated with sushi consumption in western Sydney, Australia 2015. ---
783  2017 Establishing Genotype-to-Phenotype Relationships in Bacteria Causing Hospital-Acquired Pneumonia: A Prelude to the Application of Clinical Metagenomics. ARGs, CMg, HAP, NGS
784  2017 Establishing Genotypic Cutoff Values To Measure Antimicrobial Resistance in Salmonella. GCVs
785  2017 Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine. ---
786  2017 Evaluation of a Stenotrophomonas maltophilia bacteremia cluster in hematopoietic stem cell transplantation recipients using whole genome sequencing. BSI, HSCT
787  2017 Evaluation of multiple approaches to identify genome-wide polymorphisms in closely related genotypes of sweet cherry (Prunus avium L.). ---
788  2017 Evidence for viable and stable triploid Trypanosoma congolense parasites. ---
789  2017 Evolution and Transmission of Carbapenem-Resistant Klebsiella pneumoniae Expressing the blaOXA-232 Gene During an Institutional Outbreak Associated With Endoscopic Retrograde Cholangiopancreatography. CRKP, SNVs
790  2017 Evolution of the Pseudomonas aeruginosa mutational resistome in an international Cystic Fibrosis clone. CF
791  2017 Evolutionary Dynamics of Pandemic Methicillin-Sensitive Staphylococcus aureus ST398 and Its International Spread via Routes of Human Migration. MRSA, MSSA, NYC, SNP, STs
792  2017 Evolutionary pathway analysis and unified classification of East Asian lineage of Mycobacterium tuberculosis. ---
793  2017 Exiguobacterium sp. A1b/GX59 isolated from a patient with community-acquired pneumonia and bacteremia: genomic characterization and literature review. CAP, Com
794  2017 Exome and genome sequencing of nasopharynx cancer identifies NF-kappaB pathway activating mutations. EBV, LMP1, NPC, WES
795  2017 Experimental Evolution of Diverse Strains as a Method for the Determination of Biochemical Mechanisms of Action for Novel Pyrrolizidinone Antibiotics. ETC
796  2017 Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. EXL-WGS
797  2017 FIND Tuberculosis Strain Bank: a Resource for Researchers and Developers Working on Tests To Detect Mycobacterium tuberculosis and Related Drug Resistance. FIND, FLDs, MDR, SLDs, TB, XDR
798  2017 Finegoldia magna Isolated from Orthopedic Joint Implant-Associated Infections. MALDI-TOF MS
799  2017 First report of blaOXA-181-mediated carbapenem resistance in Aeromonas caviae in association with pKP3-A: Threat for rapid dissemination. ---
800  2017 Food Safety in the Age of Next Generation Sequencing, Bioinformatics, and Open Data Access. ---
801  2017 From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement. ---
802  2017 Functional regression method for whole genome eQTL epistasis analysis with sequencing data. FRGM
803  2017 Genetic Characterization of Vibrio cholerae O1 isolates from outbreaks between 2011 and 2015 in Tanzania. CCs, MLVA
804  2017 Genetic control of erythropoiesis. GWASs, SNP, WES
805  2017 Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing. MEN 2A
806  2017 Genetic insights into juvenile idiopathic arthritis derived from deep whole genome sequencing. JIA, LD
807  2017 Genetic relatedness of Vibrio cholerae isolates within and between households during outbreaks in Dhaka, Bangladesh. MLVA, SNV
808  2017 Genetic variants of Helicobacter pylori type IV secretion system components CagL and CagI and their association with clinical outcomes. AACs, CG, DU, GC, GU
809  2017 Genome-centric evaluation of Burkholderia sp. strain SRS-W-2-2016 resistant to high concentrations of uranium and nickel isolated from the Savannah River Site (SRS), USA. Ni, SRS
810  2017 Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. BUA, GWAS, QUS, VOS
811  2017 Genomic Analysis of Multidrug-Resistant Escherichia coli from North Carolina Community Hospitals: Ongoing Circulation of CTX-M-Producing ST131-H30Rx and ST131-H30R1 Strains. MDR, SNVs, ST131
812  2017 Genomic analysis of urogenital and rectal Neisseria meningitidis isolates reveals encapsulated hyperinvasive meningococci and coincident multidrug-resistant gonococci. IMD, MSM
813  2017 Genomic and Epidemiological Evidence for Community Origins of Hospital-Onset Methicillin-Resistant Staphylococcus aureus Bloodstream Infections. BSIs, HO, MRSA, MSSA
814  2017 Genomic and Molecular Characterization of Clinical Isolates of Enterobacteriaceae Harboring mcr-1 in Colombia, 2002 to 2016. S1-PFGE, STs
815  2017 Genomic characterisation of clinical and environmental Pseudomonas putida group strains and determination of their role in the transfer of antimicrobial resistance genes to Pseudomonas aeruginosa. ARG
816  2017 Genomic Characterization Helps Dissecting an Outbreak of Listeriosis in Northern Italy. LM
817  2017 Genomic Characterization of USA300 Methicillin-Resistant Staphylococcus aureus (MRSA) to Evaluate Intraclass Transmission and Recurrence of Skin and Soft Tissue Infection (SSTI) Among High-Risk Military Trainees. MRSA, SNVs, SSTI
818  2017 Genomic characterization, phylogenetic analysis, and identification of virulence factors in Aerococcus sanguinicola and Aerococcus urinae strains isolated from infection episodes. CPS, IE, UTIs
819  2017 Genomic diagnosis for children with intellectual disability and/or developmental delay. WES
820  2017 Genomic investigation of a suspected outbreak of Legionella pneumophila ST82 reveals undetected heterogeneity by the present gold-standard methods, Denmark, July to November 2014. LD, SNP, ST
821  2017 Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. ChRCC, KICH
822  2017 Genomic relatedness of Staphylococcus pettenkoferi isolates of different origins. ---
823  2017 Genomic sequencing of Neisseria gonorrhoeae to respond to the urgent threat of antimicrobial-resistant gonorrhea. ---
824  2017 Global Distribution and Evolutionary History of Enterovirus D68, with Emphasis on the 2014 Outbreak in Ontario, Canada. EV-D68
825  2017 Global phylogenetic analysis of Escherichia coli and plasmids carrying the mcr-1 gene indicates bacterial diversity but plasmid restriction. MGEs
826  2017 Haemagglutinin and neuraminidase sequencing delineate nosocomial influenza outbreaks with accuracy equivalent to whole genome sequencing. HA, NA
827  2017 HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies. SMRT
828  2017 Heritable L1 retrotransposition in the mouse primordial germline and early embryo. mRC-seq, PGCs, TPRT
829  2017 High Interlaboratory Reproducibility and Accuracy of Next-Generation-Sequencing-Based Bacterial Genotyping in a Ring Trial. cgMLST, MLST, rSTs, STs
830  2017 High mortality of bloodstream infection outbreak caused by carbapenem-resistant P. aeruginosa producing SPM-1 in a bone marrow transplant unit. BMT, CRPa-BSI
831  2017 High Prevalence of CTX-M-15-Type ESBL-Producing E. coli from Migratory Avian Species in Pakistan. CTX-CAZ-AM-DC-TE-SXT, ESBL-E. coli, MDR, SNPs, STs
832  2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. DEE, DNMs, ID
833  2017 Identification of antibiotic resistance genes in the multidrug-resistant Acinetobacter baumannii strain, MDR-SHH02, using whole-genome sequencing. A.baumanii, ARDB, COGs, MDR, PAIs
834  2017 Identification of complex genomic rearrangements in cancers using CouGaR. CGRs, DOC
835  2017 Identification of copy number variations and translocations in cancer cells from Hi-C data. CNVs, DMs, HSRs
836  2017 Identification of Escherichia coli and Shigella Species from Whole-Genome Sequences. CC288, ID, MLST
837  2017 Identifying the clonal relationship model of multifocal papillary thyroid carcinoma by whole genome sequencing. CNV, MPTC, SNVs
838  2017 Impact of extensive antibiotic treatment on faecal carriage of antibiotic-resistant enterobacteria in children in a low resistance prevalence setting. CF
839  2017 Importance of whole genome sequencing for the assessment of outbreaks in diagnostic laboratories: analysis of a case series of invasive Streptococcus pyogenes infections. SNP
840  2017 Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. CCS, KIRs, MCM, MES
841  2017 Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. GWA, MAF
842  2017 Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing. IPDs, NGS, WES
843  2017 Insights on Klebsiella pneumoniae Biofilms Assembled on Different Surfaces Using Phenotypic and Genotypic Approaches. EPS, HAIs, SEM
844  2017 International high-risk clones of Klebsiella pneumoniae KPC-2/CC258 and Escherichia coli CTX-M-15/CC10 in urban lake waters. MDR, PMQR
845  2017 Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. NGS, NICU, WES
846  2017 Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. CMS, CNV
847  2017 Investigation of a Cluster of Sequence Type 22 Methicillin-Resistant Staphylococcus aureus Transmission in a Community Setting. GP, MRSA
848  2017 Investigation of copy number variation in subjects with major depression based on whole-genome sequencing data. CNVs, MDD
849  2017 Investigation of intra-herd spread of Mycobacterium caprae in cattle by generation and use of a whole-genome sequence. bTB, SNPs
850  2017 Investigation of Respiratory Syncytial Virus Outbreak on an Adult Stem Cell Transplant Unit by Use of Whole-Genome Sequencing. HCWs, RSV-B
851  2017 Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease. ADNI, CSF, FANCC, ICV, LOAD, MAF, MRI
852  2017 Laboratory-acquired infections of Salmonella enterica serotype Typhi in South Africa: phenotypic and genotypic analysis of isolates. Salmonella typhi
853  2017 Lightning-fast genome variant detection with GROM. CNVs, GROM, SVs
854  2017 Long Fragment Read (LFR) Technology: Cost-Effective, High-Quality Genome-Wide Molecular Haplotyping. LFR, SNPs
855  2017 MALDI-TOF MS meets WGS in a VRE outbreak investigation. VRE
856  2017 Meningococcal carriage in Dutch adolescents and young adults; across-sectional and longitudinal cohort study. ---
857  2017 Metagenomic analysis of microbial community of a parasitoid wasp Megaphragma amalphitanum. ---
858  2017 Minimal genetic change in Vibrio cholerae in Mozambique over time: Multilocus variable number tandem repeat analysis and whole genome sequencing. MLVA
859  2017 MIP-MAP: High-Throughput Mapping of Caenorhabditis elegans Temperature-Sensitive Mutants via Molecular Inversion Probes. ts
860  2017 Mixed infections in tuberculosis: The missing part in a puzzle. TB
861  2017 Molecular and epidemiological characterization of carbapenemase-producing Enterobacteriaceae in Norway, 2007 to 2014. CPE
862  2017 Molecular characterisation of human Shiga toxin-producing Escherichia coli O26 strains: results of an outbreak investigation, Romania, February to August 2016. HUS, MLST, ST, STEC
863  2017 Molecular characterization of an unauthorized genetically modified Bacillus subtilis production strain identified in a vitamin B2 feed additive. GM, Rib
864  2017 Molecular characterization of hepatitis B virus in Bangladesh reveals a highly recombinant population. HBV, NA
865  2017 Molecular characterization of hepatitis B virus in Vietnam. BCP, HBV
866  2017 Molecular ecology studies of species radiations: current research gaps, opportunities and challenges. RAD-seq
867  2017 Molecular epidemiology of Staphylococcus aureus bacteremia in a single large Minnesota medical center in 2015 as assessed using MLST, core genome MLST and spa typing. CCs, cgMLST, MLST, MRSA, MSSA, SAB, SPA, STs
868  2017 Molecular mechanisms of action, resistance, detection to the first-line anti tuberculosis drugs: Rifampicin and pyrazinamide in the post whole genome sequencing era. Mtb, PZA, RIF, TB
869  2017 Molecular typing of Mycobacterium Abscessus isolated from cystic fibrosis patients. VNTR
870  2017 Molecular typing of Mycobacterium tuberculosis complex isolated from pulmonary tuberculosis patients in central Ethiopia. M. tuberculosis, MIRU-VENTR, PCR, RD, TB
871  2017 Multi-drug resistant Klebsiella pneumoniae strains circulating in hospital setting: whole-genome sequencing and Bayesian phylogenetic analysis for outbreak investigations. ---
872  2017 Multi-spacer typing as an effective method to distinguish the clonal lineage of Clostridium butyricum strains isolated from stool samples during a series of necrotizing enterocolitis cases. MST, NEC
873  2017 Multilaboratory Survey To Evaluate Salmonella Prevalence in Diarrheic and Nondiarrheic Dogs and Cats in the United States between 2012 and 2014. NCBI
874  2017 Multinational outbreak of travel-related Salmonella Chester infections in Europe, summers 2014 and 2015. ST
875  2017 Multiple Locus Variable-Number Tandem-Repeat and Single-Nucleotide Polymorphism-Based Brucella Typing Reveals Multiple Lineages in Brucella melitensis Currently Endemic in China. STs
876  2017 Multistate Outbreak of Salmonella Anatum Infections Linked to Imported Hot Peppers - United States, May-July 2016. FDA, PFGE
877  2017 Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. PCR
878  2017 Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. ASD, ID
879  2017 Mycobacterium tuberculosis Acquires Limited Genetic Diversity in Prolonged Infections, Reactivations and Transmissions Involving Multiple Hosts. ---
880  2017 Mycobacterium tuberculosis and whole genome sequencing: a practical guide and online tools available for the clinical microbiologist. ---
881  2017 Mycobacterium tuberculosis resistance prediction and lineage classification from genome sequencing: comparison of automated analysis tools. DST, TB
882  2017 Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels. NGS, WES
883  2017 Newborn Screening in the Era of Precision Medicine. NBS, WES
884  2017 No nosocomial transmission under standard hygiene precautions in short term contact patients in case of an unexpected ESBL or Q&A E. coli positive patient: a one-year prospective cohort study within three regional hospitals. HR-GNR
885  2017 Non-coding genetic variation in cancer. ---
886  2017 Non-pncA Gene-Mutated but Pyrazinamide-Resistant Mycobacterium tuberculosis: Why Is That? DST, PZA, TB
887  2017 Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods. NIPS, SNP
888  2017 Norgal: extraction and de novo assembly of mitochondrial DNA from whole-genome sequencing data. ---
889  2017 Norwegian patients and retail chicken meat share cephalosporin-resistant Escherichia coli and IncK/blaCMY-2 resistance plasmids. SNP, STs, UTIs
890  2017 NOVOPlasty: de novo assembly of organelle genomes from whole genome data. NGS
891  2017 On the association analysis of genome-sequencing data: A spatial clustering approach for partitioning the entire genome into nonoverlapping windows. ---
892  2017 Outcomes, infectiousness, and transmission dynamics of patients with extensively drug-resistant tuberculosis and home-discharged patients with programmatically incurable tuberculosis: a prospective cohort study. CASS
893  2017 Palindromic amplification of the ERBB2 oncogene in primary HER2-positive breast tumors. ---
894  2017 Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? SVs
895  2017 Pathogenic Anti-Mullerian Hormone Variants in Polycystic Ovary Syndrome. AMH, PCOS
896  2017 Patient perspectives on whole-genome sequencing for undiagnosed diseases. ---
897  2017 Phage typing or CRISPR typing for epidemiological surveillance of Salmonella Typhimurium? CRISPR
898  2017 Phylotyper: in silico predictor of gene subtypes. ---
899  2017 Plasmid Classification in an Era of Whole-Genome Sequencing: Application in Studies of Antibiotic Resistance Epidemiology. ---
900  2017 Population and Whole Genome Sequence Based Characterization of Invasive Group A Streptococci Recovered in the United States during 2015. CCs, GAS, Mrp
901  2017 Population Dynamics of Staphylococcus aureus in Cystic Fibrosis Patients To Determine Transmission Events by Use of Whole-Genome Sequencing. CF, MRSA, SNP
902  2017 Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. ---
903  2017 Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey. ---
904  2017 Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. eQTLs
905  2017 Preferences for the provision of whole genome sequencing services among young adults. ---
906  2017 Preterm Infant-Associated Clostridium tertium, Clostridium cadaveris, and Clostridium paraputrificum Strains: Genomic and Evolutionary Insights. ANI
907  2017 Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. CNVs, PFBC
908  2017 Primary liver cancer genome sequencing: translational implications and challenges. GAs, HCC, ICC, NGS, PLC, RNA-Seq, T-NGS, WES
909  2017 Progress in Genetic Studies of Tourette's Syndrome. ADHD, GWASs, OCD, TS, WES
910  2017 Prospective use of whole genome sequencing (WGS) detected a multi-country outbreak of Salmonella Enteritidis. ---
911  2017 Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples. SAAV, SNVs
912  2017 Protracted Regional Dissemination of GIM-1-Producing Serratia marcescens in Western Germany. PFGE
913  2017 Pseudomonas Endocarditis with an unstable phenotype: the challenges of isolate characterization and Carbapenem stewardship with a partial review of the literature. PA
914  2017 PSSV: a novel pattern-based probabilistic approach for somatic structural variation identification. SVs
915  2017 Public health surveillance in the UK revolutionises our understanding of the invasive Salmonella Typhimurium epidemic in Africa. ---
916  2017 PulseNet International: Vision for the implementation of whole genome sequencing (WGS) for global food-borne disease surveillance. wgMLST
917  2017 QTL Mapping and CRISPR/Cas9 Editing to Identify a Drug Resistance Gene in Toxoplasma gondii. CRISPR, gRNA, QTL
918  2017 QTL Mapping by Whole Genome Re-sequencing and Analysis of Candidate Genes for Nitrogen Use Efficiency in Rice. BSA, InDel, NUE, QTL, SNPs
919  2017 Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data. GWAS, SNPs
920  2017 Quantitative Whole Genome Sequencing of Circulating Tumor Cells Enables Personalized Combination Therapy of Metastatic Cancer. CTC
921  2017 Rapid identification of a Mycobacterium tuberculosis full genetic drug resistance profile through whole genome sequencing directly from sputum. ---
922  2017 Rapid Metagenomic Next-Generation Sequencing during an Investigation of Hospital-Acquired Human Parainfluenza Virus 3 Infections. HPIV3, mNGS
923  2017 Rapid SNP Detection and Genotyping of Bacterial Pathogens by Pyrosequencing. canSNPs, SNPs, Stx
924  2017 Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. EEG, EIEE19, GABA, MRI
925  2017 Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. NPC
926  2017 Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. cfDNA, RATs
927  2017 Real-time genomic investigation underlying the public health response to a Shiga toxin-producing Escherichia coli O26:H11 outbreak in a nursery. HUS, STEC
928  2017 Real-Time Whole-Genome Sequencing for Surveillance of Listeria monocytogenes, France. cgMLST, PFGE
929  2017 Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. EE, SB
930  2017 Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. DNMs, NDDs, NGS, WES
931  2017 Recurrent seasonal outbreak of an emerging serotype of Shiga toxin-producing Escherichia coli (STEC O55:H7 Stx2a) in the south west of England, July 2014 to September 2015. HUS, STEC, Stx
932  2017 ReliableGenome: annotation of genomic regions with high/low variant calling concordance. RG, VC
933  2017 Removing the bottleneck in whole genome sequencing of Mycobacterium tuberculosis for rapid drug resistance analysis: a call to action. ---
934  2017 Risk of Transmission of Antimicrobial Resistant Escherichia coli from Commercial Broiler and Free-Range Retail Chicken in India. ERIC, ESBL, ExPEC, MDR
935  2017 Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. ---
936  2017 Salmonella enterica serovar Infantis from Food and Human Infections, Switzerland, 2010-2015: Poultry-Related Multidrug Resistant Clones and an Emerging ESBL Producing Clonal Lineage. MDR, PFGE, ST
937  2017 Salmonella Typhimurium gastroenteritis leading to chronic prosthetic vascular graft infection. PVGI, SNP
938  2017 Same-Day Diagnostic and Surveillance Data for Tuberculosis via Whole-Genome Sequencing of Direct Respiratory Samples. ---
939  2017 Seeding and Establishment of Legionella pneumophila in Hospitals: Implications for Genomic Investigations of Nosocomial Legionnaires' Disease. ST
940  2017 Selective Whole-Genome Amplification Is a Robust Method That Enables Scalable Whole-Genome Sequencing of Plasmodium vivax from Unprocessed Clinical Samples. gDNA, SNP, SWGA
941  2017 SeqArray-a storage-efficient high-performance data format for WGS variant calls. VCF
942  2017 Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. OR
943  2017 Serotype Distribution, Population Structure, and Antimicrobial Resistance of Group B Streptococcus Strains Recovered from Colonized Pregnant Women. GBS, ST
944  2017 Short-read whole genome sequencing for determination of antimicrobial resistance mechanisms and capsular serotypes of current invasive Streptococcus agalactiae recovered in the USA. iGBS
945  2017 Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. GWAS, NGS
946  2017 Simultaneous Emergence of Multidrug-Resistant Candida auris on 3 Continents Confirmed by Whole-Genome Sequencing and Epidemiological Analyses. ---
947  2017 Single locus genotyping to track Leishmania donovani in the Indian subcontinent: Application in Nepal. ISC
948  2017 Single nucleotide polymorphisms in efflux pumps genes in extensively drug resistant Mycobacterium tuberculosis isolates from Pakistan. DS, Mtb, SNPs, TB, XDR
949  2017 Single-Nucleotide Polymorphisms in the Whole-Genome Sequence Data of Shiga Toxin-Producing Escherichia coli O157:H7/H- Strains by Cultivation. SNPs
950  2017 Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data. MDD, SNVP
951  2017 Singleton Sequence Type 382, an Emerging Clonal Group of Listeria monocytogenes Associated with Three Multistate Outbreaks Linked to Contaminated Stone Fruit, Caramel Apples, and Leafy Green Salad. SNPs, ST382
952  2017 SNVPhyl: a single nucleotide variant phylogenomics pipeline for microbial genomic epidemiology. SNVPhyl, SNVs
953  2017 Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. AVM, ddPCR, MEK1, WES
954  2017 Spoligotyping and whole-genome sequencing analysis of lineage 1 strains of Mycobacterium tuberculosis in Da Nang, Vietnam. DR, EAI, MTBC
955  2017 Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. SF, WES
956  2017 Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. ---
957  2017 Survey on the Use of Whole-Genome Sequencing for Infectious Diseases Surveillance: Rapid Expansion of European National Capacities, 2015-2016. EEA, EU
958  2017 SVPV: a structural variant prediction viewer for paired-end sequencing datasets. GUI, SVs
959  2017 Targeted identification of TE insertions in a Drosophila genome through hemi-specific PCR. TEs, TGS
960  2017 The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy. ApHCM, CI, HCM, HR, SRVH
961  2017 The Effect of Nucleic Acid Extraction Platforms and Sample Storage on the Integrity of Viral RNA for Use in Whole Genome Sequencing. ---
962  2017 The Evolution of Strain Typing in the Mycobacterium tuberculosis Complex. MIRU-VNTR, MTBC, NGS, TB
963  2017 The impact of structural variation on human gene expression. eQTLs, SNVs, SVs
964  2017 The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. MDR, PCPs
965  2017 The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology. MEIs, MELT
966  2017 The origin of chow chows in the light of the East Asian breeds. RAD
967  2017 The practical use of genome sequencing data in the management of a feline colony pedigree. LOF
968  2017 The price of whole-genome sequencing may be decreasing, but who will be sequenced? WTP
969  2017 The role of whole genome sequencing in antimicrobial susceptibility testing of bacteria: report from the EUCAST Subcommittee. AST, QC
970  2017 The Validation and Implications of Using Whole Genome Sequencing as a Replacement for Traditional Serotyping for a National Salmonella Reference Laboratory. SISTR
971  2017 The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development. BRCA2, MOs, zep
972  2017 TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. SVs
973  2017 Toolkit for automated and rapid discovery of structural variants. HTS, SV
974  2017 Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions. PICO
975  2017 Tracking of Listeria monocytogenes in meat establishment using Whole Genome Sequencing as a food safety management tool: A proof of concept. MAP, RTE
976  2017 Transferability of antimicrobial resistance from multidrug-resistant Escherichia coli isolated from cattle in the USA to E. coli and Salmonella Newport recipients. ESBL, MDRE
977  2017 Transmission is a Noticeable Cause of Resistance Among Treated Tuberculosis Patients in Shanghai, China. TB, VNTR
978  2017 Tuberculosis in Swiss captive Asian elephants: microevolution of Mycobacterium tuberculosis characterized by multilocus variable-number tandem-repeat analysis and whole-genome sequencing. MLVA
979  2017 Tuberculosis Outbreak in an Educational Institution in Norway. MIRU-VNTR, TB
980  2017 Use of whole-genome sequencing and evaluation of the apparent sensitivity and specificity of antemortem tuberculosis tests in the investigation of an unusual outbreak of Mycobacterium bovis infection in a Michigan dairy herd. bTB, CFT, gamma-IFN
981  2017 Use of whole-genome sequencing to distinguish relapse from reinfection in a completed tuberculosis clinical trial. MIRU-VNTR, SNP
982  2017 Using sheep genomes from diverse U.S. breeds to identify missense variants in genes affecting fecundity. BMP15, BMPR1B, GDF9
983  2017 Using whole genome sequencing to investigate transmission in a multi-host system: bovine tuberculosis in New Zealand. bTB
984  2017 Using whole genome sequencing to study American foulbrood epidemiology in honeybees. AFB, cgMLST, MLST
985  2017 Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. ---
986  2017 Validation and Implementation of Clinical Laboratory Improvements Act-Compliant Whole-Genome Sequencing in the Public Health Microbiology Laboratory. CLIA, LDTs, LOD, MLST, PHLs, SNPs
987  2017 Variable selection models for genomic selection using whole-genome sequence data and singular value decomposition. MCMC, PEV, SVD
988  2017 Vibrio parahaemolyticus O4:K8 forms a potential predominant clone in southern China as detected by whole-genome sequence analysis. T3SS-2, TDH, trh
989  2017 Weekly screening supports terminating nosocomial transmissions of vancomycin-resistant enterococci on an oncologic ward - a retrospective analysis. VRE
990  2017 Weighted likelihood inference of genomic autozygosity patterns in dense genotype data. ROA
991  2017 When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing. CGES, VUS
992  2017 Whole Genome and Core Genome Multilocus Sequence Typing and Single Nucleotide Polymorphism Analyses of Listeria monocytogenes Isolates Associated with an Outbreak Linked to Cheese, United States, 2013. PFGE, SNP
993  2017 Whole Genome Sequence Analysis of Salmonella Typhi Isolated in Thailand before and after the Introduction of a National Immunization Program. ---
994  2017 Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles. InDel, SNP
995  2017 Whole genome sequencing (WGS) for food-borne pathogen surveillance and control - taking the pulse. ---
996  2017 Whole genome sequencing analyses of Listeria monocytogenes that persisted in a milkshake machine for a year and caused illnesses in Washington State. cgMLST, PFGE, SNP, wgsMLST
997  2017 Whole genome sequencing and analysis of Campylobacter coli YH502 from retail chicken reveals a plasmid-borne type VI secretion system. ---
998  2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. EAF
999  2017 Whole genome sequencing for M/XDR tuberculosis surveillance and for resistance testing. ---
1000  2017 Whole Genome Sequencing for Surveillance of Antimicrobial Resistance in Actinobacillus pleuropneumoniae. AMR
1001  2017 Whole genome sequencing for the management of drug-resistant TB in low income high TB burden settings: Challenges and implications. ---
1002  2017 Whole genome sequencing for typing and characterisation of Listeria monocytogenes isolated in a rabbit meat processing plant. MVLST, PMSC
1003  2017 Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. CHS, LYST
1004  2017 Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. eQTL, GWAS, IL-6, KD, SNVs, TLR6
1005  2017 Whole Genome Sequencing of Candida glabrata for Detection of Markers of Antifungal Drug Resistance. SNPs
1006  2017 Whole genome sequencing of clinical strains of Mycobacterium tuberculosis from Mumbai, India: A potential tool for determining drug-resistance and strain lineage. Mtb, TB
1007  2017 Whole genome sequencing of group A Streptococcus: development and evaluation of an automated pipeline for emmgene typing. GAS, iGAS, PHE
1008  2017 Whole genome sequencing of matched tumor, adjacent non-tumor tissues and corresponding normal blood samples of hepatocellular carcinoma patients revealed dynamic changes of the mutations profiles during hepatocarcinogenesis. HCC, TK1
1009  2017 Whole genome sequencing of Mycobacterium tuberculosis for detection of drug resistance: a systematic review. TB
1010  2017 Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. HH, HPO, PWS
1011  2017 Whole genome sequencing of Shigella sonnei through PulseNet Latin America and Caribbean: advancing global surveillance of foodborne illnesses. AMR
1012  2017 Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. RP, WES
1013  2017 Whole genome sequencing reveals within-host genetic changes in paired meningococcal carriage isolates from Ethiopia. ST
1014  2017 Whole Genome Sequencing-Based Mapping and Candidate Identification of Mutations from Fixed Zebrafish Tissue. fbxw7, WISH
1015  2017 Whole Genome Sequencing-Implications for Infection Prevention and Outbreak Investigations. ---
1016  2017 Whole genomic analysis of two potential recombinant strains within Human mastadenovirus species C previously found in Beijing, China. ARI, HAdV-C
1017  2017 Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia. AP, BP, CML, CP, iPSCs
1018  2017 Whole-Genome Sequence Analysis of Antimicrobial Resistance Genes in Streptococcus uberis and Streptococcus dysgalactiae Isolates from Canadian Dairy Herds. AMR, S. dysgalactiae, S. uberis
1019  2017 Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines. Cic, CRPC
1020  2017 Whole-genome sequence-based genomic prediction in laying chickens with different genomic relationship matrices to account for genetic architecture. DRP, GBLUP, HD, SNPs
1021  2017 Whole-Genome Sequencing Accurately Identifies Resistance to Extended-Spectrum beta-Lactams for Major Gram-Negative Bacterial Pathogens. AMR, BMD, PCR
1022  2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. ---
1023  2017 Whole-Genome Sequencing for National Surveillance of Shigella flexneri. SNP
1024  2017 Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer. PARP
1025  2017 Whole-Genome Sequencing in Epidemiology of Campylobacter jejuni Infections. ---
1026  2017 Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists. NBS
1027  2017 Whole-Genome Sequencing of Bacterial Pathogens: the Future of Nosocomial Outbreak Analysis. ICU
1028  2017 Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia. DNMs, LOF, MZ
1029  2017 Whole-Genome Sequencing Reveals the Contribution of Long-Term Carriers in Staphylococcus aureus Outbreak Investigation. CI, HPD, LTCs, PFGE, SNVs
1030  2017 Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. PD
1031  2017 Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression. MDD, SNVs
1032  2017 XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). CFA9, DSD, GWAS
1033  2017 [Whole-genome sequencing in German clinical practice : Economic impacts of its use in selected areas of application]. ---
1034  2018 A Comparison of Homogenization vs. Enzymatic Lysis for Microbiome Profiling in Clinical Endoscopic Biopsy Tissue Samples. qPCR
1035  2018 A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. ASD, CNVs
1036  2018 A large-scale whole-genome sequencing analysis reveals highly specific genome editing by both Cas9 and Cpf1 (Cas12a) nucleases in rice. crRNAs, sgRNAs, SNVs
1037  2018 A mutation in anti-sigma factor MAB_3542c may be responsible for tigecycline resistance in Mycobacterium abscessus. ---
1038  2018 A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. DD, IFN, SAVI, STING
1039  2018 A Population-Based Descriptive Atlas of Invasive Pneumococcal Strains Recovered Within the U.S. During 2015-2016. IPD
1040  2018 A Predominant Variable-Number Tandem-Repeat Cluster of Mycobacterium tuberculosis Isolates among Asylum Seekers in the Netherlands and Denmark, Deciphered by Whole-Genome Sequencing. CAS, SNPs, VNTR
1041  2018 A Quantitative Evaluation of MIRU-VNTR Typing Against Whole-Genome Sequencing for Identifying Mycobacterium tuberculosis Transmission: A Prospective Observational Cohort Study. MIRU-VNTR, SNVs
1042  2018 A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. AD
1043  2018 A Review of Copy Number Variants in Inherited Neuropathies. CGH, CMT, CNVs, HNPP, kb, Mb, NGS, SNP, SNVs
1044  2018 A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. ---
1045  2018 A SNP resource for studying North American moose. SNP, US
1046  2018 A Sporadic Four-Year Hospital Outbreak of a ST97-IVa MRSA With Half of the Patients First Identified in the Community. HCWs, MRSA
1047  2018 A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies. DNMs, GWASs
1048  2018 A streamlined workflow for single-cells genome-wide copy-number profiling by low-pass sequencing of LM-PCR whole-genome amplification products. CNAs, CTCs, LM-PCR, WBCs, WGA
1049  2018 A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing. ---
1050  2018 A Validation Approach of an End-to-End Whole Genome Sequencing Workflow for Source Tracking of Listeria monocytogenes and Salmonella enterica. SNPs
1051  2018 Accuracy of Different Bioinformatics Methods in Detecting Antibiotic Resistance and Virulence Factors from Staphylococcus aureus Whole-Genome Sequences. ---
1052  2018 Accuracy of whole genome sequencing versus phenotypic (MGIT) and commercial molecular tests for detection of drug-resistant Mycobacterium tuberculosis isolated from patients in Brazil and Mozambique. DR-TB, DST
1053  2018 Accurate Assembly and Typing of HLA using a Graph-Guided Assembler Kourami. HLA, HTS
1054  2018 Accurity: accurate tumor purity and ploidy inference from tumor-normal WGS data by jointly modelling somatic copy number alterations and heterozygous germline single-nucleotide-variants. HGSNVs, SCNAs
1055  2018 Actionable secondary findings from whole-genome sequencing of 954 East Asians. ACMG
1056  2018 Activity of ceftazidime-avibactam against carbapenemase-producing Enterobacteriaceae from urine specimens obtained during the infection-carbapenem resistance evaluation surveillance trial (iCREST) in Spain. CPE, iCREST, PCR
1057  2018 Advances in Clinical Sample Preparation for Identification and Characterization of Bacterial Pathogens Using Metagenomics. ---
1058  2018 Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. WES
1059  2018 ALPHLARD: a Bayesian method for analyzing HLA genes from whole genome sequence data. HLA, WES
1060  2018 AMYCNE: Confident copy number assessment using whole genome sequencing data. CNVs
1061  2018 An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. ---
1062  2018 An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. DAP, eQTL, GLOM, IgAN, NS, TI, TWAS
1063  2018 An Investigation of an Acute Gastroenteritis Outbreak: Cronobacter sakazakii, a Potential Cause of Food-Borne Illness. AGE, MLST, OR, PFGE, wgSNPs
1064  2018 An Outbreak of Streptococcus pyogenes in a Mental Health Facility: Advantage of Well-Timed Whole-Genome Sequencing Over emm Typing. MLST, SNP
1065  2018 Analysis of enterotoxigenic Bacillus cereus strains from dried foods using whole genome sequencing, multi-locus sequence analysis and toxin gene prevalence and distribution using endpoint PCR analysis. MLSA, PIF
1066  2018 Analysis of Phylogenetic Variation of Stenotrophomonas maltophilia Reveals Human-Specific Branches. LPS, SNP
1067  2018 Analysis of potential household transmission events of tuberculosis in the city of Belem, Brazil. DST, HHC, MIC, MIRU-VNTR, Mtb, TB
1068  2018 Analysis of the prophages carried by human infecting isolates provides new insight into the evolution of Group B Streptococcus species. GBS
1069  2018 Analysis of Whole-Genome Sequences for the Prediction of Penicillin Resistance and beta-Lactamase Activity in Bacillus anthracis. AMR, PEN, PEN-R, PEN-S, PEP
1070  2018 Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. AIH
1071  2018 Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease. CHD
1072  2018 Antimicrobial resistance profiles of Shigella dysenteriae isolated from travellers returning to the UK, 2004-2017. AMR, GI
1073  2018 Application of Bacillus velezensis NJAU-Z9 Enhanced Plant Growth Associated with Efficient Rhizospheric Colonization Monitored by qPCR with Primers Designed from the Whole Genome Sequence. PGPR
1074  2018 Application of whole genome sequence data in analyzing the molecular epidemiology of Shiga toxin-producing Escherichia coli O157:H7/H. MST, SNPs, UPGMA
1075  2018 Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. WES
1076  2018 Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data. ROH
1077  2018 Autologous reference types can confound the detection of somatic mutation in solid cancers. ICGC, SNVs
1078  2018 Autosomal dominant intellectual disability. ID, XLID
1079  2018 Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. ---
1080  2018 Beaver Fever: Whole-Genome Characterization of Waterborne Outbreak and Sporadic Isolates To Study the Zoonotic Transmission of Giardiasis. BC, SNVs
1081  2018 Campylobacter coli From Retail Liver and Meat Products Is More Aerotolerant Than Campylobacter jejuni. ---
1082  2018 CGT-seq: epigenome-guided de novo assembly of the core genome for divergent populations with large genome. ---
1083  2018 Challenges in Laboratory Detection of Fungal Pathogens in the Airways of Cystic Fibrosis Patients. CF, MLST
1084  2018 Characterisation of plasmid-mediated rmtB-1 in Enterobacteriaceae clinical isolates from Sao Paulo, Brazil. MLST, PCR, PFGE
1085  2018 Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers. LUAD, NSCLC
1086  2018 Characterization of Campylobacter jejuni and Campylobacter coli Broiler Isolates by Whole-Genome Sequencing. ---
1087  2018 Characterization of Carbapenem-Resistant Escherichia coli Isolates Through the Whole-Genome Sequencing Analysis. MLST, ST
1088  2018 Characterization of Gene Families Encoding Beta-Lactamases of Gram-Negative Rods Isolated from Ready-to-Eat Vegetables in Mexico City. NGS
1089  2018 Characterization of germline mutations in familial lung cancer from the Chinese population. FLC
1090  2018 Characterization of meningococcal carriage isolates from Greece by whole genome sequencing: Implications for 4CMenB vaccine implementation. BAST, MATS
1091  2018 Chromosomally Encoded mcr-5 in Colistin-Nonsusceptible Pseudomonas aeruginosa. ---
1092  2018 Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). BPP, CGH, NDD, PMS, WES
1093  2018 Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene. ERG, FAF, MEH, NGS, OCT, VA, WVU
1094  2018 Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. CNAs, FF, FFPE
1095  2018 Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL. ---
1096  2018 Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing. NGS
1097  2018 Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemia. AML, B-ALL, dMDS, HCT, MDS, SNPs, WES
1098  2018 Clonal Emergence of Invasive Multidrug-Resistant Staphylococcus epidermidis Deconvoluted via a Combination of Whole-Genome Sequencing and Microbiome Analyses. ---
1099  2018 Clonal replacement and expansion among invasive meningococcal isolates of serogroup W in France. CFR, IMD, NmW
1100  2018 Clostridium difficile Whole Genome Sequencing Reveals Limited Transmission Among Symptomatic Children: A Single-Center Analysis. CA, CDIs, HCFA, SNVs
1101  2018 Clostridium neonatale sp. nov. linked to necrotizing enterocolitis in neonates and a clarification of species assignable to the genus Clostridium (Prazmowski 1880) emend. Lawson and Rainey 2016. AST, MALDI-TOF
1102  2018 Coexistence of three blaKPC-2 genes on an IncF/IncR plasmid in ST11 Klebsiella pneumoniae. MIC, ST
1103  2018 Colistin Resistance Mediated by mcr-1 in ESBL-Producing, Multidrug Resistant Salmonella Infantis in Broiler Chicken Industry, Italy (2016-2017). AMR, ESBL, MDR
1104  2018 Comparative analysis of Campylobacter isolates from wild birds and chickens using MALDI-TOF MS, biochemical testing, and DNA sequencing. MALDI-TOF MS
1105  2018 Comparative analysis of de novo assemblers for variation discovery in personal genomes. HLA, WES
1106  2018 Comparative Genome Analysis and Evaluation of Probiotic Characteristics of Lactobacillus plantarum Strain JDFM LP11. LAB, PTS
1107  2018 Comparative genomic analysis of ten clinical Streptococcus pneumoniae collected from a Malaysian hospital reveal 31 new unique drug-resistant SNPs using whole genome sequencing. SNPs
1108  2018 Comparative genomics reveals differences in mobile virulence genes of Escherichia coli O103 pathotypes of bovine fecal origin. EHEC, EPEC
1109  2018 Comparing genome versus proteome-based identification of clinical bacterial isolates. MALDI-TOF, MS
1110  2018 Comparing Two Mycobacterium tuberculosis Genomes from Chinese Immigrants with Native Genomes Using Mauve Alignments. TB
1111  2018 Comparison of advanced whole genome sequence-based methods to distinguish strains of Salmonella enterica serovar Heidelberg involved in foodborne outbreaks in Quebec. CRISPR, MLST, S. Heidelberg, SNV
1112  2018 Comparison of EpCAMhighCD44+ cancer stem cells with EpCAMhighCD44- tumor cells in colon cancer by single-cell sequencing. CSCs, DTCs, SCNAs
1113  2018 Comparison of genomes and proteomes of four whole genome-sequenced Campylobacter jejuni from different phylogenetic backgrounds. iTRAQ
1114  2018 Comparison of genotype imputation strategies using a combined reference panel for chicken population. ---
1115  2018 Comparison of three variant callers for human whole genome sequencing. WES
1116  2018 Comparison of whole genome sequencing to restriction endonuclease analysis and gel diffusion precipitin-based serotyping of Pasteurella multocida. GDPT, REA, SNP
1117  2018 Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. cxSVs
1118  2018 Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. ADA2, DBA, WES
1119  2018 Comprehensive assessment of the quality of Salmonella whole genome sequence data available in public sequence databases using the Salmonella in silico Typing Resource (SISTR). MLST, SISTR, SRA
1120  2018 Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. CPGs, MINAS, MPTs, P/LP
1121  2018 Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. FISH, NGS, PIDs, SS, WES
1122  2018 Computational identification of micro-structural variations and their proteogenomic consequences in cancer. CPTAC, HTS, microSVs, MS
1123  2018 Core Genome Multilocus Sequence Typing and Single Nucleotide Polymorphism Analysis in the Epidemiology of Brucella melitensis Infections. cgMLST, MLVA, NGS, SNP
1124  2018 Core Genome Multilocus Sequence Typing: a Standardized Approach for Molecular Typing of Mycoplasma gallisepticum. cgMLST
1125  2018 Correction: Oniciuc, E. A.; et al. The Present and Future of Whole Genome Sequencing (WGS) and Whole Metagenome Sequencing (WMS) for Surveillance of Antimicrobial Resistant Microorganisms and Antimicrobial Resistance Genes across the Food Chain. Genes 2018, 9, 268. WMS
1126  2018 CoVaCS: a consensus variant calling system. NGS, TGS, WES
1127  2018 Cross-border outbreak of extensively drug-resistant tuberculosis linked to a university in Romania. TB, XDR
1128  2018 CTX-M-15-Producing Shewanella Species Clinical Isolate Expressing OXA-535, a Chromosome-Encoded OXA-48 Variant, Putative Progenitor of the Plasmid-Encoded OXA-436. ESBL, MALDI-TOF MS
1129  2018 Daptomycin Resistant Staphylococcus aureus Clinical Strain With Novel Non-synonymous Mutations in the mprF and vraS Genes: A New Insight Into Daptomycin Resistance. DAP, MSSA, RT-qPCR
1130  2018 De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. NUIs
1131  2018 Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. PTPRQ
1132  2018 Deciphering Multifactorial Resistance Phenotypes in Acinetobacter baumannii by Genomics and Targeted Label-free Proteomics. MS, RT-qPCR, SRM
1133  2018 Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese. GWAS
1134  2018 Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. LDL-C
1135  2018 Demography and its effects on genomic variation in crop domestication. SVs
1136  2018 Detection and characterization of a rhabdovirus causing mortality in black bullhead catfish, Ameiurus melas. IcRV, TenRV
1137  2018 Detection and Characterization of ESBL-Producing Escherichia coli From Humans and Poultry in Ghana. ESBL, MLST, ST
1138  2018 Detection of antimicrobial resistance genes associated with the International Space Station environmental surfaces. AMR
1139  2018 Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing. ---
1140  2018 Detection of Legionella Anisa in Water from Hospital Dental Chair Units and Molecular Characterization by Whole-Genome Sequencing. DCUs, NEN, wgMLST
1141  2018 Detection of the carbapenemase gene blaVIM-5 in members of the Pseudomonas putida group isolated from polluted Nigerian wetlands. CRB
1142  2018 Diff-seq: A high throughput sequencing-based mismatch detection assay for DNA variant enrichment and discovery. SNPs
1143  2018 Direct whole-genome sequencing of Plasmodium falciparum specimens from dried erythrocyte spots. ---
1144  2018 Direct Whole-Genome Sequencing of Sputum Accurately Identifies Drug-Resistant Mycobacterium tuberculosis Faster than MGIT Culture Sequencing. MGIT
1145  2018 Discovering human germ cell mutagens with whole genome sequencing: Insights from power calculations reveal the importance of controlling for between-family variability. ---
1146  2018 Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer. NGS
1147  2018 Dissecting whole-genome sequencing-based online tools for predicting resistance in Mycobacterium tuberculosis: can we use them for clinical decision guidance? MDR, TB
1148  2018 Distinct evolutionary patterns of Neisseria meningitidis serogroup B disease outbreaks at two universities in the USA. MnB
1149  2018 Distinct Genomic Features Characterize Two Clades of Corynebacterium diphtheriae: Proposal of Corynebacterium diphtheriae Subsp. diphtheriae Subsp. nov. and Corynebacterium diphtheriae Subsp. lausannense Subsp. nov. ANI
1150  2018 Diversity of Anaplasma and Ehrlichia/Neoehrlichia Agents in Terrestrial Wild Carnivores Worldwide: Implications for Human and Domestic Animal Health and Wildlife Conservation. MLST, NGS
1151  2018 DNA extraction from primary liquid blood cultures for bloodstream infection diagnosis using whole genome sequencing. ---
1152  2018 DNAp: A Pipeline for DNA-seq Data Analysis. FDA, WES
1153  2018 Draft genome sequence of a KPC-2-producing Klebsiella pneumoniae ST340 carrying blaCTX-M-15 and blaCTX-M-59 genes: a rich genome of mobile genetic elements and genes encoding antibiotic resistance. CC258, ST340
1154  2018 Draft Genome Sequence of Helicobacter cinaedi, Compiled by Direct Whole-Genome Sequencing of a Blood Culture-Positive Isolate in Hong Kong. ---
1155  2018 Draft Genome Sequence of Probiotic Lactobacillus brevis TUCO-5E, Isolated from Porcine Milk. ORFs
1156  2018 Draft Genome Sequences of Lactobacillus salivarius A3iob and Lactobacillus johnsonii CRL1647, Novel Potential Probiotic Strains for Honeybees (Apis mellifera L.). ---
1157  2018 Draft Whole Genome Sequence Analyses on Pseudomonas syringae pv. actinidiae Hypersensitive Response Negative Strains Detected from Kiwifruit Bleeding Sap Samples. HR, MLSA
1158  2018 Early genetic aberrations in patients with sporadic colorectal cancer. CIN, CNV, CRC, LOH, MMR
1159  2018 Effect of Vaccination on Pneumococci Isolated from the Nasopharynx of Healthy Children and the Middle Ear of Children with Otitis Media in Iceland. MDR, MEs, NVT, PCVs, STs, VT
1160  2018 Efficiency of different strategies to mitigate ascertainment bias when using SNP panels in diversity studies. He, LD, MAF, PCA, SNP
1161  2018 Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing. ABE
1162  2018 Emergence and establishment of KPC-2-producing ST11 Klebsiella pneumoniae in a general hospital in Shanghai, China. CRE, CRKP, MLST, PCR, PFGE, ST
1163  2018 Emergence and Within-Host Genetic Evolution of Methicillin-Resistant Staphylococcus aureus Resistant to Linezolid in a Cystic Fibrosis Patient. CF, G2576T, LZD, MRSA
1164  2018 Emergence in Japan of an isolate of Klebsiella pneumoniae co-harbouring blaKPC-2 and rmtB. MICs
1165  2018 Emergence of dalbavancin non-susceptible, vancomycin-intermediate Staphylococcus aureus (VISA) after treatment of MRSA central line-associated bloodstream infection with a dalbavancin- and vancomycin-containing regimen. MRSA, VISA, VNTR
1166  2018 Emerging needs and opportunities in foodborne disease detection and prevention: From tools to people. ---
1167  2018 Endogenous endophthalmitis caused by a multidrug-resistant hypervirulent Klebsiella pneumoniae strain belonging to a novel single locus variant of ST23: first case report in China. ESBL, hvKP
1168  2018 Endoperoxide-based compounds: cross-resistance with artemisinins and selection of a Plasmodium falciparum lineage with a K13 non-synonymous polymorphism. ---
1169  2018 Enterohaemorrhagic and other Shiga toxin-producing Escherichia coli (STEC): Where are we now regarding diagnostics and control strategies? EHEC, HUS, LAMP, STEC, STEC
1170  2018 Environmental colonization and onward clonal transmission of carbapenem-resistant Acinetobacter baumannii (CRAB) in a medical intensive care unit: the case for environmental hygiene. CRAB, MICU, PPS
1171  2018 Epidemic spread of OXA-48 beta-lactamase in Croatia. ---
1172  2018 Epidemiological analysis of Salmonella clusters identified by whole genome sequencing, England and Wales 2014. ---
1173  2018 Epidemiological aspects of healthcare-associated infections and microbial genomics. AST, HAIs, MDRO, SNPs
1174  2018 Epidemiological investigation of an Acinetobacter baumannii outbreak using Core Genome Multilocus Sequence Typing. cgMLST, CR, ICU, MLST, rep
1175  2018 Epidemiological links between tuberculosis cases identified twice as efficiently by whole genome sequencing than conventional molecular typing: A population-based study. SNPs, VNTR
1176  2018 Establishment and characterization of new tumor xenografts and cancer cell lines from EBV-positive nasopharyngeal carcinoma. NPC, PDXs, WES
1177  2018 Ethical Implications of Rapid Whole-Genome Sequencing in Neonates. ---
1178  2018 Evaluating the use of whole-genome sequencing for outbreak investigations in the lack of closely related reference genome. Bcc, SNPs
1179  2018 Evaluation of a Culture-Dependent Algorithm and a Molecular Algorithm for Identification of Shigella spp., Escherichia coli, and Enteroinvasive E. coli. EIEC
1180  2018 Evaluation of WGS based approaches for investigating a food-borne outbreak caused by Salmonella enterica serovar Derby in Germany. cgMLST, SNP
1181  2018 Evaluation of Whole-Genome Sequencing for Identification and Typing of Vibrio cholerae. ST69
1182  2018 Evaluation of Whole-Genome Sequencing for Mycobacterial Species Identification and Drug Susceptibility Testing in a Clinical Setting: a Large-Scale Prospective Assessment of Performance against Line Probe Assays and Phenotyping. CI, DST, IQR
1183  2018 Evaluation of whole-genome sequencing for outbreak detection of Verotoxigenic Escherichia coli O157:H7 from the Canadian perspective. MLVA, PFGE, SNVPhyl, VTEC, wgMLST
1184  2018 Evolution via recombination: Cell-to-cell contact facilitates larger recombination events in Streptococcus pneumoniae. ---
1185  2018 Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital. ---
1186  2018 Exploring Genomic Variants Related to Residual Feed Intake in Local and Commercial Chickens by Whole Genomic Resequencing. CREB, PTEN, RFI, SNPs
1187  2018 Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines. ---
1188  2018 Extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli and Acinetobacter baumannii among horses entering a veterinary teaching hospital: The contemporary "Trojan Horse". ESBL, MDR, PFGE, STc
1189  2018 Extensive Gene Amplification as a Mechanism for Piperacillin-Tazobactam Resistance in Escherichia coli. GRM, TZP
1190  2018 Extensively drug-resistant tuberculosis inSouth Africa: genomic evidence supporting transmission in communities. IQR, SNP, XDR-TB
1191  2018 Factors Contributing to the Evolution of mecA-Mediated beta-lactam Resistance in Staphylococci: Update and New Insights From Whole Genome Sequencing (WGS). CoNS, MRSA, PbpD
1192  2018 Family-based tests for associating haplotypes with general phenotype data: Improving the FBAT-haplotype algorithm. ---
1193  2018 Farm-to-fork investigation of an outbreak of Shiga toxin-producing Escherichia coli O157. MQ, RTE, SNPs, STEC
1194  2018 Fatal Sepsis Associated with Bacterial Contamination of Platelets - Utah and California, August 2017. ---
1195  2018 FGF-21 as a Potential Biomarker for Mitochondrial Diseases. FGF-21, GDF15, WES
1196  2018 Finger Millet [Eleusine coracana (L.) Gaertn.] Improvement: Current Status and Future Interventions of Whole Genome Sequence. ---
1197  2018 First case of AML with rare chromosome translocations: a case report of twins. AML, ITD
1198  2018 First Description in Greece of mphC-Positive Staphylococci Causing Subclinical Mastitis in Ewes. ---
1199  2018 First description of novel arginine catabolic mobile elements (ACMEs) types IV and V harboring a kdp operon in Staphylococcus epidermidis characterized by whole genome sequencing. ACME, ACMEs, CRISPR, DRs, MLST, SCCmec, STs
1200  2018 First insights on the genetic diversity of MDR Mycobacterium tuberculosis in Lebanon. AUBMC, VNTR
1201  2018 First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. CCMs
1202  2018 First Report of an OXA-48- and CTX-M-213-Producing Kluyvera Species Clone Recovered from Patients Admitted in a University Hospital in Madrid, Spain. ESBLs, RFLP, XbaI-PFGE
1203  2018 First report of sexually transmitted multi-drug resistant Shigella sonnei infections in Switzerland, investigated by whole genome sequencing. MSM, STI
1204  2018 First use of whole-genome sequencing to investigate a cluster of Yersinia enterocolitica, Liverpool, United Kingdom, 2017. MALDI-TOF MS
1205  2018 Fluoroquinolone prophylaxis selects for meropenem non-susceptible Pseudomonas aeruginosa in patients with hematologic malignancies and hematopoietic-cell transplant recipients. HCT, HM
1206  2018 Fluoroquinolone resistance in Salmonella: insights by whole-genome sequencing. FQ
1207  2018 Forward and reverse mutations in stages of cancer development. CNVs, GOH, LOH, SNVs, WES
1208  2018 Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project. ---
1209  2018 From high definition precision healthcare to precision public oral health: opportunities and challenges. ---
1210  2018 From Theory to Practice: Translating Whole-Genome Sequencing (WGS) into the Clinic. ---
1211  2018 Functional characterization of naturally occurring wild soybean mutant (sg-5) lacking astringent saponins using whole genome sequencing approach. RPKM
1212  2018 Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. FE
1213  2018 Genetic and Phylogenetic Characteristics of Pasteurella multocida Isolates From Different Host Species. LPS, MLST, SNPs
1214  2018 Genetic basis of chromosomally-encoded mcr-1 gene. ---
1215  2018 Genetic characterization of Shiga toxin producing Escherichia coli belonging to the emerging hybrid pathotype O80:H2 isolated from humans 2010-2017 in Switzerland. cgMLST, ExPEC, MDR, STEC
1216  2018 Genetic Determinants of Tetracycline Resistance in Clinical Streptococcus pneumoniae Serotype 1 Isolates from Niger. CAT
1217  2018 Genetic mutations associated with lung cancer metastasis to the brain. ARE, CTCs
1218  2018 Genetic profiling of Mycobacterium bovis strains from slaughtered cattle in Eritrea. bTB, M. bovis
1219  2018 Genetic Variants Involved in Bipolar Disorder, a Rough Road Ahead. BD
1220  2018 Genome Annotation Generator: a simple tool for generating and correcting WGS annotation tables for NCBI submission. NCBI, SQL
1221  2018 Genome Sequencing of Extended-Spectrum beta-Lactamase (ESBL)-Producing Klebsiella pneumoniae Isolated from Pigs and Abattoir Workers in Cameroon. ESBL, ST
1222  2018 Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. CI, HSPs, MS, PPMS, RMS, RR, SPMS
1223  2018 Genome U-Plot: a whole genome visualization. SV
1224  2018 Genome wide characterization of enterotoxigenic Escherichia coli serogroup O6 isolates from multiple outbreaks and sporadic infections from 1975-2016. AR, ETEC
1225  2018 Genome wide comparison of Ethiopian Leishmania donovani strains reveals differences potentially related to parasite survival. CNV, FT, NE, SE, SNP, VL
1226  2018 Genome-Wide Comparative Analysis of Aspergillus fumigatus Strains: The Reference Genome as a Matter of Concern. SNV
1227  2018 Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. ASD
1228  2018 GenomeTrakr proficiency testing for foodborne pathogen surveillance: an exercise from 2015. SNPs
1229  2018 Genomic analysis of in vivo acquired resistance to colistin and rifampicin in Acinetobacter baumannii. ---
1230  2018 Genomic Analysis of Multiresistant Staphylococcus capitis Associated with Neonatal Sepsis. CoNS, NICUs, NZ
1231  2018 Genomic analysis of the first isolate of KPC-2-producing Klebsiella pneumoniae from Uruguay. ARGs, SNPs, ST258
1232  2018 Genomic characterization of a paediatric MRSA outbreak by next-generation sequencing. MRSA
1233  2018 Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. BTCs, DCCs, ICCs, PHCs, WES
1234  2018 Genomic characterization of chromosome translocations in patients with T/myeloid mixed-phenotype acute leukemia. MPAL
1235  2018 Genomic Characterization of Extended-Spectrum Cephalosporin-Resistant Salmonella enterica in the Colombian Poultry Chain. ---
1236  2018 Genomic Characterization of Listeria monocytogenes Isolates Associated with Clinical Listeriosis and the Food Production Environment in Ireland. CC, PFGE, SNP
1237  2018 Genomic characterization of malonate positive Cronobacter sakazakii serotype O:2, sequence type 64 strains, isolated from clinical, food, and environment samples. Csak, MA, ST
1238  2018 Genomic Diversity of Listeria monocytogenes Isolated from Clinical and Non-Clinical Samples in Chile. MLST, PMSC, SNP, ST
1239  2018 Genomic Epidemiology of Campylobacter jejuni Transmission in Israel. CCs, ST, wgMLST
1240  2018 Genomic Insights into Colistin-Resistant Klebsiella pneumoniae from a Tunisian Teaching Hospital. CoRKp, MDR
1241  2018 Genomic insights into the emergence and spread of antimicrobial-resistant bacterial pathogens. AMR
1242  2018 Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. ASD, CNVs
1243  2018 Genomic Rearrangement Signatures and Clinical Outcomes in High-Grade Serous Ovarian Cancer. AOCS, CI, HGSOC, HR, NMF, OS
1244  2018 Genomic sequencing is required for identification of tuberculosis transmission in Hawaii. MIRU-VNTR, Mtb, TB
1245  2018 Genomic Study of a Clostridium difficile Multidrug Resistant Outbreak-Related Clone Reveals Novel Determinants of Resistance. CDI, MLVA
1246  2018 Genomic Surveillance Reveals Diversity of Multidrug-Resistant Organism Colonization and Infection: A Prospective Cohort Study in Liver Transplant Recipients. CRE, LT, MDROs
1247  2018 Genomics of foodborne pathogens for microbial food safety. ---
1248  2018 Genomics-Assisted Identification and Characterization of the Genetic Variants Underlying Differential Nitrogen Use Efficiencies in Allotetraploid Rapeseed Genotypes. CNVs, NUE, SNPs, SVs
1249  2018 Genomics-Based Identification of Microorganisms in Human Ocular Body Fluid. ---
1250  2018 Genomics-Driven Precision Medicine for Advanced Pancreatic Cancer: Early Results from the COMPASS Trial. PDAC, RNA-Seq
1251  2018 Genotype-Corrector: improved genotype calls for genetic mapping in F2 and RIL populations. GBS, RILs, SNPs
1252  2018 Genotypic drug resistance using whole-genome sequencing of Mycobacterium tuberculosis clinical isolates from North-western Tanzania. BMC, LJ, TB
1253  2018 Genotyping and Whole-Genome Sequencing to Identify Tuberculosis Transmission to Pediatric Patients in British Columbia, Canada, 2005-2014. BC, CBP, FBP, MIRU-VNTR, TB
1254  2018 Global characterization of copy number variants in epilepsy patients from whole genome sequencing. CNVs
1255  2018 GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service. AWS, GATK, GCTA
1256  2018 Guidelines for whole genome bisulphite sequencing of intact and FFPET DNA on the Illumina HiSeq X Ten. WGBS
1257  2018 Gut microbiota and serum metabolite differences in African Americans and White Americans with high blood pressure. BP, PLS-DA
1258  2018 Harmonized Genome Wide Typing of Tubercle Bacilli Using a Web-Based Gene-By-Gene Nomenclature System. MDR, MTBC, TB
1259  2018 Healthcare-associated fungal outbreaks: New and uncommon species, New molecular tools for investigation and prevention. ---
1260  2018 High diversity in SCCmec elements among multidrug-resistant Staphylococcus haemolyticus strains originating from paediatric patients; characterization of a new composite island. DR
1261  2018 High frequency of hybrid Escherichia coli strains with combined Intestinal Pathogenic Escherichia coli (IPEC) and Extraintestinal Pathogenic Escherichia coli (ExPEC) virulence factors isolated from human faecal samples. APEC, E. coli, EPEC, ExPEC, ExPEC, IPEC, IPEC, MLVA, NIPH, NMEC, UPEC, VAGs
1262  2018 High Genetic Similarity of MRSA ST88 Isolated From Pigs and Humans in Kogi State, Nigeria. MRSA, ST
1263  2018 High prevalence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacteriaceae in the UK and Ireland. 16S-RMTases, MICs, STs
1264  2018 High prevalence of carriage of mcr-1-positive enteric bacteria among healthy children from rural communities in the Chaco region, Bolivia, September to October 2016. ---
1265  2018 High prevalence of MRSA and multi-resistant gram-negative bacteria in refugees admitted to the hospital-But no hint of transmission. MDR-GNB, MRSA, VRE
1266  2018 High Rates of Human Fecal Carriage of mcr-1-Positive Multidrug-Resistant Enterobacteriaceae Emerge in China in Association With Successful Plasmid Families. ---
1267  2018 High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing. CNVs
1268  2018 Hospitalized Pets as a Source of Carbapenem-Resistance. GNB
1269  2018 How to: molecular investigation of a hospital outbreak. ---
1270  2018 Human copy number variants are enriched in regions of low mappability. CNVs
1271  2018 Identification of a New Antimicrobial Resistance Gene Provides Fresh Insights Into Pleuromutilin Resistance in Brachyspira hyodysenteriae, Aetiological Agent of Swine Dysentery. ---
1272  2018 Identification of candidate domestication-related genes with a systematic survey of loss-of-function mutations. LOF
1273  2018 Identification of Neisseria meningitidis by MALDI-TOF MS may not be reliable. CI, MALDI-TOF MS
1274  2018 Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients. AML, NGS
1275  2018 Identification of rare de novo epigenetic variations in congenital disorders. CAs, NDs
1276  2018 Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing. IL17RC
1277  2018 Identification ofmultiple species and subpopulations among Australian clinical Sporothrix isolates using whole genome sequencing. ---
1278  2018 Identifying mixed Mycobacterium tuberculosis infections from whole genome sequence data. ---
1279  2018 IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. IFT52, LCA, SRTD
1280  2018 IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. IFT88, IRD
1281  2018 Impact of somatic and germline mutations on the outcome of systemic mastocytosis. SM
1282  2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. ---
1283  2018 Improving imputation in disease-relevant regions: lessons from cystic fibrosis. CF, HRC, SNVs
1284  2018 Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models. ccfDNA, FQAs, NGS, NIPS, RMSE, SNPs
1285  2018 Improving the quality and workflow of bacterial genome sequencing and analysis: paving the way for a Switzerland-wide molecular epidemiological surveillance platform. MDR
1286  2018 Imputation from SNP chip to sequence: a case study in a Chinese indigenous chicken population. ---
1287  2018 Incorporating Whole-Genome Sequencing into Public Health Surveillance: Lessons from Prospective Sequencing of Salmonella Typhimurium in Australia. ACT, MLVA
1288  2018 Increased mcr-1 in pathogenic Escherichia coli from diseased swine, Taiwan. PFGE
1289  2018 INSaFLU: an automated open web-based bioinformatics suite "from-reads" for influenza whole-genome-sequencing-based surveillance. NGS
1290  2018 Insights into the long-term persistence of Legionella in facilities from whole-genome sequencing. SNP
1291  2018 Integrating patient and whole-genome sequencing data to provide insights into the epidemiology of seasonal influenza A(H3N2) viruses. ---
1292  2018 Integrating standardized whole genome sequence analysis with a global Mycobacterium tuberculosis antibiotic resistance knowledgebase. DST, MTBC, UVP
1293  2018 Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review. IEMs, LC-MS, UM, WES
1294  2018 Integrative DNA copy number detection and genotyping from sequencing and array-based platforms. CNVs, iCNV, SNP, WES
1295  2018 Interpreting Whole-Genome Sequence Analyses of Foodborne Bacteria for Regulatory Applications and Outbreak Investigations. CFSAN, SNPs
1296  2018 Intra-Hospital, Inter-Hospital and Intercontinental Spread of ST78 MRSA From Two Neonatal Intensive Care Unit Outbreaks Established Using Whole-Genome Sequencing. CC, HCW, MST, NICU, TP
1297  2018 Investigation of a Carbapenemase-producing Acinetobacter baumannii outbreak using whole genome sequencing versus a standard epidemiologic investigation. CP-AB, PFGE, SD, SNV
1298  2018 Investigation of a cluster of multi-drug resistant tuberculosis in a high-rise apartment block in Singapore. ---
1299  2018 Investigation of short tandem repeats in major depression using whole-genome sequencing data. MDD, STR
1300  2018 Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data. ARGD, SNP
1301  2018 Is It Our Duty To Hunt for Pathogenic Mutations? ---
1302  2018 L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis. HCC, ICC, LINE-1 or L1, RC-seq
1303  2018 Laboratory-Based and Point-of-Care Testing for MSSA/MRSA Detection in the Age of Whole Genome Sequencing. ---
1304  2018 Linezolid and Vancomycin-Resistant Enterococcus faecium in Solid Organ Transplant Recipients: Infection Control and Antimicrobial Stewardship Using Whole Genome Sequencing. FDA, LR-VRE
1305  2018 Listeria goaensis sp. nov. ---
1306  2018 Low genomic diversity of Legionella pneumophila within clinical specimens. SBT, SNPs, ST
1307  2018 Mapping of genomic EGFRvIII deletions in glioblastoma: insight into rearrangement mechanisms and biomarker development. cfDNA, CSF, EGFR, GBM, PCR, SNPs
1308  2018 Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. aCGH, sSMC
1309  2018 Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings. FISH, SNP
1310  2018 Mathematically universal and biologically consistent astrocytoma genotype encodes for transformation and predicts survival phenotype. GBM, GSVD
1311  2018 Measuring mutation accumulation in single human adult stem cells by whole-genome sequencing of organoid cultures. ASCs
1312  2018 Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. CMA, WES
1313  2018 Metabolic engineering to guide evolution - Creating a novel mode for L-valine production with Corynebacterium glutamicum. ICD, MGE
1314  2018 MinION rapid sequencing: Review of potential applications in neurosurgery. CNS, NGS
1315  2018 MIRU-profiler: a rapid tool for determination of 24-loci MIRU-VNTR profiles from assembled genomes of Mycobacterium tuberculosis. MIRU, TB
1316  2018 Molecular characterization of Carbapenem resistant Escherichia coli recovered from a tertiary hospital in Lebanon. AUBMC, ESBL, MLST, PBRT, PFGE
1317  2018 Molecular Characterization of Escherichia coli Isolated from Chickens with Colibacillosis in Senegal. AMR, APEC, ExPEC
1318  2018 Molecular Characterization of Invasive Isolates of Neisseria meningitidis in Casablanca, Morocco. IMD
1319  2018 Molecular characterization of PRKN structural variations identified through whole-genome sequencing. PD, SVs
1320  2018 Molecular characterization of serogroup 19 Streptococcus pneumoniae in the Czech Republic in the post-vaccine era. CC, MLST, PBPs, PsrP, ST
1321  2018 Molecular characterization of Vibrio cholerae responsible for cholera epidemics in Uganda by PCR, MLVA and WGS. CC, MLVA, PCR
1322  2018 Molecular Diagnosis of Tuberculosis. Mtb, NAAT, TB
1323  2018 Molecular epidemiology of multi- and extensively-drug-resistant Mycobacterium tuberculosis in Ireland, 2001-2014. MDR, MIRU-VNTR, MTBC, TB, XDR
1324  2018 Molecular Typing of Escherichia coli O157 Isolates from Romanian Human Cases. MLST, SNP, VTEC
1325  2018 Molecular Typing of ST239-MRSA-III From Diverse Geographic Locations and the Evolution of the SCCmec III Element During Its Intercontinental Spread. ---
1326  2018 Multi- and Extensively Drug Resistant Mycobacterium tuberculosis in South Africa: a Molecular Analysis of Historical Isolates. LJ, LPA, MDR-TB, RIF
1327  2018 Multi-step genomic dissection of a suspected intra-hospital Helicobacter cinaedi outbreak. ICT
1328  2018 Multidrug-Resistant Campylobacter jejuni Outbreak Linked to Puppy Exposure - United States, 2016-2018. ---
1329  2018 Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma. DBD, ESCC, IR, UV
1330  2018 Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. IGDs, PIGS, WES
1331  2018 Mycobacterium bovis Persistence in Two Different Captive Wild Animal Populations in Germany: a Longitudinal Molecular Epidemiological Study Revealing Pathogen Transmission by Whole-Genome Sequencing. bTB, MIRU-VNTR, SNPs
1332  2018 Mycobacterium tuberculosis and whole-genome sequencing: how close are we to unleashing its full potential? Mtb, NGS
1333  2018 Mycobacterium tuberculosis Drug Resistance and Transmission among Human Immunodeficiency Virus-Infected Patients in Ho Chi Minh City, Vietnam. DST, HIV, MDR, TB
1334  2018 Mycobacterium tuberculosis Next-Generation Whole Genome Sequencing: Opportunities and Challenges. DR-TB, DST, TB
1335  2018 National outbreak of Salmonella Give linked to a local food manufacturer in Malta, October 2016. ---
1336  2018 National outbreak of Shiga toxin-producing Escherichia coli O157:H7 linked to mixed salad leaves, United Kingdom, 2016. UK
1337  2018 Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. KREC, NGS, PID, SCID, TREC
1338  2018 Next generation microbiological risk assessment: opportunities of whole genome sequencing (WGS) for foodborne pathogen surveillance, source tracking and risk assessment. ---
1339  2018 Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes. NGS, WES
1340  2018 Next generation sequencing-based emerging trends in molecular biology of gastric cancer. EBV, GC, NGS, WES
1341  2018 Next-Generation Sequencing in Autism Spectrum Disorder. ASD, NGS
1342  2018 No association between resistance mutations, empiric antibiotic, and mortality in ceftriaxone-resistant Escherichia coli and Klebsiella pneumoniae bacteremia. ESBL, MLST, VF
1343  2018 No unexpected CRISPR-Cas9 off-target activity revealed by trio sequencing of gene-edited mice. DNMs, Tyr
1344  2018 Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. arRP, RT, WES
1345  2018 Occurrence and molecular composition of methicillin-resistant Staphylococcus aureus isolated from ocular surfaces of horses presented with ophthalmologic disease. IEC, MRSA
1346  2018 Occurrence and Nature of Double Alleles in Variable-Number Tandem-Repeat Patterns of More than 8,000 Mycobacterium tuberculosis Complex Isolates in The Netherlands. CI, OR, RFLP, SNPs, TB, VNTR
1347  2018 Occurrence, antimicrobial resistance and whole-genome sequencing analysis of Salmonella isolates from chicken carcasses imported into Iraq from four different countries. ST
1348  2018 Operational burden of implementing Salmonella Enteritidis and Typhimurium cluster detection using whole genome sequencing surveillance data in England: a retrospective assessment. PHE
1349  2018 Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice. ---
1350  2018 Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. OCSCC, PDX, WES
1351  2018 Outbreak of febrile gastroenteritis caused by Listeria monocytogenes 1/2a in sliced cold beef ham, Italy, May 2016. ---
1352  2018 Outbreak of IMI-1 carbapenemase-producing colistin-resistant Enterobacter cloacae on the French island of Mayotte (Indian Ocean). MLST, PFGE
1353  2018 Outbreak of Invasive Wound Mucormycosis in a Burn Unit Due to Multiple Strains of Mucor circinelloides f. circinelloides Resolved by Whole-Genome Sequencing. IWM
1354  2018 Outbreak of Salmonella Bovismorbificans associated with the consumption of uncooked ham products, the Netherlands, 2016 to 2017. ---
1355  2018 Outbreak of Salmonella Chailey Infections Linked To Precut Coconut Pieces - United States and Canada, 2017. CFIA, FDA, PFGE
1356  2018 Outbreak of Tattoo-Associated Nontuberculous Mycobacterial Skin Infections. BPHL, CDC, DOH-Miami-Dade, FDA, NTM, SNP
1357  2018 Patient and Strain Characteristics Associated With Clostridium difficile Transmission and Adverse Outcomes. CD, SNVs
1358  2018 Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. FH
1359  2018 Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives. STAGING
1360  2018 Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. ---
1361  2018 Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo. ---
1362  2018 Phylogenetic and antimicrobial resistance gene analysis of Salmonella Typhimurium strains isolated in Brazil by whole genome sequencing. SNP
1363  2018 PlasmidSeeker: identification of known plasmids from bacterial whole genome sequencing reads. ---
1364  2018 Polyphasic characterization of a novel species in the Lactobacillus casei group from cow manure of Taiwan: Description of L. chiayiensis sp. nov. ANI, isDDH, MLSA
1365  2018 Polyphyletic Nature of Salmonella enterica Serotype Derby and Lineage-Specific Host-Association Revealed by Genome-Wide Analysis. AMR, MLST, PFGE, SNP, SPI
1366  2018 Population Genomics of Francisella tularensis subsp. holarctica and its Implication on the Eco-Epidemiology of Tularemia in Switzerland. ---
1367  2018 Practical issues in implementing whole-genome-sequencing in routine diagnostic microbiology. NGS
1368  2018 Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. DXA, ECHO
1369  2018 Prediction of Phenotypic Antimicrobial Resistance Profiles From Whole Genome Sequences of Non-typhoidal Salmonella enterica. AMR, MDR, NTS
1370  2018 Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases. DCE
1371  2018 Prevalence and Characterization of Heterogeneous Variable-Number Tandem-Repeat Clusters Comprising Drug-Susceptible and/or Variable Resistant Mycobacterium tuberculosis Complex Isolates in the Netherlands from 2004 to 2016. CI, OR, SNPs, TB, VNTR
1372  2018 Prospective study on human fecal carriage of Enterobacteriaceae possessing mcr-1 and mcr-2 genes in a regional hospital in Hong Kong. STs
1373  2018 Protracted Outbreak of Salmonella Newport Infections Linked to Ground Beef: Possible Role of Dairy Cows - 21 States, 2016-2017. pattern 10, PFGE, USDA-FSIS
1374  2018 Pseudomonas aeruginosa intensive care unit outbreak: winnowing of transmissions with molecular and genomic typing. ICU, PFGE, VNTR
1375  2018 Public attitudes in Japan toward participation in whole genome sequencing studies. ---
1376  2018 Public health surveillance of multidrug-resistant clones of Neisseria gonorrhoeae in Europe: a genomic survey. NG-MAST
1377  2018 Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project. ADSP, MIs, QC, SNVs, VCFs
1378  2018 Rapid molecular assays for detection of tuberculosis. NAAT, TB
1379  2018 Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. NHS, PICU, RaPS
1380  2018 Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. AD, HLOD, LOAD, NHW
1381  2018 Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease. AD, ADNI, FDR, SKAT-O, SRE
1382  2018 Reconstructing an African haploid genome from the 18th century. HJ, SNP
1383  2018 Recurrence of tuberculosis in a low-incidence setting: a retrospective cross-sectional study augmented by whole genome sequencing. TB, WSLHD
1384  2018 Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder. ASDs
1385  2018 Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. BPJs, CMA, CNVs
1386  2018 Reporting of Clinical Genome Sequencing Results. ---
1387  2018 Resistance of Leishmania infantum to allopurinol is associated with chromosome and gene copy number variations including decrease in the S-adenosylmethionine synthetase (METK) gene copy number. CNV, VL
1388  2018 Resistome of carbapenem- and colistin-resistant Klebsiella pneumoniae clinical isolates. ---
1389  2018 Responses of intestinal virome to silver nanoparticles: safety assessment by classical virology, whole-genome sequencing and bioinformatics approaches. ---
1390  2018 Retrospective Analysis of Bacterial Cultures Sampled in German Chicken-Fattening Farms During the Years 2011-2012 Revealed Additional VIM-1 Carbapenemase-Producing Escherichia coli and a Serologically Rough Salmonella enterica Serovar Infantis. CRE
1391  2018 Retrospective use of whole genome sequencing to better understand an outbreak of Salmonella enterica serovar Mbandaka in New South Wales, Australia. NSW
1392  2018 Retrospective validation of whole genome sequencing-enhanced surveillance of listeriosis in Europe, 2010 to 2015. cgMLST, EU/EEA, LM
1393  2018 Rise and fall of outbreak-specific clone inside endemic pulsotype of Salmonella 4,[5],12:i:-; insights from high-resolution molecular surveillance in Emilia-Romagna, Italy, 2012 to 2015. MLVA
1394  2018 Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. CNVs, MEM, MEs
1395  2018 Routine detection of carbapenem-resistant gram-negative bacilli in clinical laboratories. A review of current challenge. CROs
1396  2018 Routine Whole-Genome Sequencing for Outbreak Investigations of Staphylococcus aureus in a National Reference Center. CCs, PVL
1397  2018 Salmonella enterica Phylogeny Based on Whole-Genome Sequencing Reveals Two New Clades and Novel Patterns of Horizontally Acquired Genetic Elements. ---
1398  2018 Salmonella enterica Serovar Typhi in Bangladesh: Exploration of Genomic Diversity and Antimicrobial Resistance. AMR, XDR
1399  2018 Salmonella Gallinarum field isolates and its relationship to vaccine strain SG9R. ---
1400  2018 Salmonella Serotyping Using Whole Genome Sequencing. KWS, MLST ST, SISTR
1401  2018 SCCmecFinder, a Web-Based Tool for Typing of Staphylococcal Cassette Chromosome mec in Staphylococcus aureus Using Whole-Genome Sequence Data. BLAST, MLST, MRSA, SCCmec
1402  2018 SEG - A Software Program for Finding Somatic Copy Number Alterations in Whole Genome Sequencing Data of Cancer. CNA
1403  2018 Serotype to genotype: The changing landscape of listeriosis outbreak investigations. 4bV, SNP
1404  2018 Serratia marcescens Outbreak in a Neonatal Intensive Care Unit: New Insights from Next-Generation Sequencing Applications. NICUs, PFGE
1405  2018 Setup, Validation, and Quality Control of a Centralized Whole-Genome-Sequencing Laboratory: Lessons Learned. ---
1406  2018 Seven Salmonella Typhimurium Outbreaks in Australia Linked by Trace-Back and Whole Genome Sequencing. MLVA
1407  2018 Shiga toxin-producing Escherichia coli O103:H2 outbreak in Germany after school trip to Austria due to raw cow milk, 2017 - The important role of international collaboration for outbreak investigations. PFGE, RR
1408  2018 Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. ---
1409  2018 Signatures of Selection at Drug Resistance Loci in Mycobacterium tuberculosis. TB
1410  2018 Simultaneous emergence and rapid spread of three OXA-23 producing Acinetobacter baumannii ST208 strains in intensive care units confirmed by whole genome sequencing. CRAB, SNPs
1411  2018 Single Nucleotide Polymorphisms in the HIRA Gene Affect Litter Size in Small Tail Han Sheep. HIRA
1412  2018 Spfy: an integrated graph database for real-time prediction of bacterial phenotypes and downstream comparative analyses. ---
1413  2018 Stalking a lethal superbug by whole-genome sequencing and phylogenetics: Influence on unraveling a major hospital outbreak of carbapenem-resistant Klebsiella pneumoniae. KPC-2
1414  2018 Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing. mCRPC
1415  2018 Suspected transmission and subsequent spread of MRSA from farmer to dairy cows. ---
1416  2018 Targeted genome engineering in human induced pluripotent stem cells from patients with hemophilia B using the CRISPR-Cas9 system. CRISPR-Cas9, hFIX, iPSCs, NOD/SCID, PBMNCs
1417  2018 Taxonomic profiles in metagenomic analyses of free-living microbial communities in the Ofunato Bay. ---
1418  2018 The genetics of platelet count and volume in humans. GWAS, MPV, PLT, WES
1419  2018 The genetics of vitamin D. GWAS
1420  2018 The human clone ST22 SCCmec IV methicillin-resistant Staphylococcus aureus isolated from swine herds and wild primates in Nepal: is man the common source? ---
1421  2018 The Novel Phages phiCD5763 and phiCD2955 Represent Two Groups of Big Plasmidial Siphoviridae Phages of Clostridium difficile. RBPs
1422  2018 The Present and Future of Whole Genome Sequencing (WGS) and Whole Metagenome Sequencing (WMS) for Surveillance of Antimicrobial Resistant Microorganisms and Antimicrobial Resistance Genes across the Food Chain. AMR, HTS, WMS
1423  2018 The relationship between transmission time and clustering methods in Mycobacterium tuberculosis epidemiology. cgMLST, DRC, SNP
1424  2018 The role of UNC5C in Alzheimer's disease. AD, DAPK1, NFTs, WES
1425  2018 The role of whole genome sequencing in monitoring antimicrobial resistance: A biosafety and public health priority in the Arabian Peninsula. AMR, GHC, IACG
1426  2018 The use of whole-genome sequencing incluster investigation of a multidrug-resistant tuberculosis outbreak. MDR, MIRU-VNTR, SNPs, TB
1427  2018 The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. VVP
1428  2018 The Versatile Mutational Resistome of Pseudomonas aeruginosa. ---
1429  2018 ToTem: a tool for variant calling pipeline optimization. GUI, NGS, TGS
1430  2018 Tracking a serial killer: Integrating phylogenetic relationships, epidemiology, and geography for two invasive meningococcal disease outbreaks. NYC
1431  2018 Tracking and responding to an outbreak of tuberculosis using MIRU-VNTR genotyping and whole genome sequencing as epidemiological tools. MIRU-VNTR
1432  2018 Training Population Optimization for Prediction of Cassava Brown Streak Disease Resistance in West African Clones. CBSDRs, CBSV, GS, TP
1433  2018 Translational genomics using Arabidopsis as a model enables the characterization of pennycress genes through forward and reverse genetics. ---
1434  2018 Transmission Dynamics of Hyper-Endemic Multi-Drug Resistant Klebsiella pneumoniae in a Southeast Asian Neonatal Unit: A Longitudinal Study With Whole Genome Sequencing. NU
1435  2018 Transmission of Clostridium difficile from asymptomatically colonized or infected long-term care facility residents. CDI, LTCF, REA
1436  2018 Turnaround time of whole genome sequencing for mycobacterial identification and drug susceptibility testing in routine practice. IQR
1437  2018 Two Cases of Meningococcal Disease in One Family Separated by an Extended Period - Colorado, 2015-2016. CDPHE, PEP
1438  2018 Typing and Species Identification of Clinical Klebsiella Isolates by Fourier Transform Infrared Spectroscopy and Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry. FTIR, MALDI-TOF MS
1439  2018 Typing complex meningococcal vaccines to understand diversity and population structure of key vaccine antigens. CCs, IMD, OMVs, OMVT
1440  2018 Typing of vancomycin-resistant enterococci with MALDI-TOF mass spectrometry in a nosocomial outbreak setting. MALDI-TOF MS, VREfm
1441  2018 Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing. ECM-receptor, ENS, HSCR
1442  2018 Unmasking leading to a healthcare worker Mycobacterium tuberculosis transmission. AGP, HCWs, LTBI, TB
1443  2018 Unsolicited genomic findings in daily clinical practice ---
1444  2018 USA300 methicillin-resistant Staphylococcus aureus in Stockholm, Sweden, from 2008 to 2016. MRSA
1445  2018 Use of a Sibling Subtraction Method for Identifying Causal Mutations in Caenorhabditis elegans by Whole-Genome Sequencing. HA, SSM
1446  2018 Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes. qPCR, SV
1447  2018 Use of whole genome sequencing to complement characterisation of a typhoid fever outbreak among a Marshallese community: Oklahoma, 2015. OSDH, PFGE
1448  2018 Use of whole genome sequencing to investigate an increase in Neisseria gonorrhoeae infection among women in urban areas of Australia. ---
1449  2018 Use of whole-genome sequencing for Campylobacter surveillance from NARMS retail poultry in the United States in 2015. NARMS
1450  2018 Use of Whole-Genome Sequencing in the Investigation of a Nosocomial Influenza Virus Outbreak. ---
1451  2018 Use of Whole-Genome Sequencing of Adenovirus in Immunocompromised Pediatric Patients to Identify Nosocomial Transmission and Mixed-Genotype Infection. ---
1452  2018 Using SAAS-CNV to Detect and Characterize Somatic Copy Number Alterations in Cancer Genomes from Next Generation Sequencing and SNP Array Data. SCNAs, WES
1453  2018 Utility of whole genome sequencing for multidrug resistant Mycobacterium tuberculosis isolates in a reference TB laboratory in New Zealand. DST, MDR-TB, MDR-TB, MTBC
1454  2018 Utility of whole-genome sequence data for across-breed genomic prediction. GP, GWAS, HD
1455  2018 Validation of Novel Mycobacterium tuberculosis Isoniazid Resistance Mutations Not Detectable by Common Molecular Tests. INH-R, MTBC
1456  2018 Validation of Whole-Genome Sequencing for Identification and Characterization of Shiga Toxin-Producing Escherichia coli To Produce Standardized Data To Enable Data Sharing. PHE, SERL, SNP, ST, STEC, Stx, wgMLST
1457  2018 Vancomycin-resistant Enterococcus faecium sequence type 796 - rapid international dissemination of a new epidemic clone. AMR, ST, VRE
1458  2018 Very low depth whole genome sequencing in complex trait association studies. ---
1459  2018 Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. ---
1460  2018 Virome and bacteriome characterization of children with pneumonia and asthma in Mexico City during winter seasons 2014 and 2015. ---
1461  2018 Virulotyping of Salmonella enterica serovar Typhi isolates from Pakistan: Absence of complete SPI-10 in Vi negative isolates. S. Typhi, SPIs, VNTR
1462  2018 WGSSAT: A High-Throughput Computational Pipeline for Mining and Annotation of SSR Markers From Whole Genomes. ncRNA, SSR
1463  2018 What Is Resistance? Impact of Phenotypic versus Molecular Drug Resistance Testing on Therapy for Multi- and Extensively Drug-Resistant Tuberculosis. CCs, CI, DST, pDST
1464  2018 Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study. ---
1465  2018 Whole Genome Characterization of a Few EMS-Induced Mutants of Upland Rice Variety Nagina 22 Reveals a Staggeringly High Frequency of SNPs Which Show High Phenotypic Plasticity Towards the Wild-Type. DUS, EMS, InDels, SNPs, SSR, WT
1466  2018 Whole Genome Library Construction for Next Generation Sequencing. ---
1467  2018 Whole Genome Sequence Analysis of CTX-M-15 Producing Klebsiella Isolates Allowed Dissecting a Polyclonal Outbreak Scenario. ESBL
1468  2018 Whole genome sequence study of cannabis dependence in two independent cohorts. DSM-IV, GWAS
1469  2018 Whole genome sequencing analysis for cancer genomics and precision medicine. NGS
1470  2018 Whole genome sequencing analysis of multiple Salmonella serovars provides insights into phylogenetic relatedness, antimicrobial resistance, and virulence markers across humans, food animals and agriculture environmental sources. AMR, FFP, SNP
1471  2018 Whole genome sequencing analysis of small and large colony mutants from the mouse lymphoma assay. 4NQO, LOH, MLA, TK
1472  2018 Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. FMD, SCC, XP
1473  2018 Whole genome sequencing and microsatellite analysis of the Plasmodium falciparum E5 NF54 strain show that the var, rifin and stevor gene families follow Mendelian inheritance. MS, RIFIN, STEVOR, VSA
1474  2018 Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure. TCDD
1475  2018 Whole Genome Sequencing for Determining the Source of Mycobacterium bovis Infections in Livestock Herds and Wildlife in New Zealand. NZ
1476  2018 Whole genome sequencing for investigations of meningococcal outbreaks in the United States: a retrospective analysis. ML, PFGE
1477  2018 Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability. ASD, ID
1478  2018 Whole genome sequencing identifies influenza A H3N2 transmission and offers superior resolution to classical typing methods. ---
1479  2018 Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. HCM
1480  2018 Whole Genome Sequencing instead of Whole Exome Sequencing is required to identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani families. PCOS, SNP, WES
1481  2018 Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability. ID
1482  2018 Whole Genome Sequencing of Australian Candida glabrata Isolates Reveals Genetic Diversity and Novel Sequence Types. MLST, PCA, SNPs, STs
1483  2018 Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. ADSP, CH, LOAD
1484  2018 Whole Genome Sequencing of Influenza A and B Viruses With the MinION Sequencer in the Clinical Setting: A Pilot Study. ---
1485  2018 Whole genome sequencing of multidrug-resistant Salmonella enterica serovar Typhimurium isolated from humans and poultry in Burkina Faso. NTS
1486  2018 Whole genome sequencing of Neisseria gonorrhoeae reveals transmission clusters involving patients of mixed HIV serostatus. MSM
1487  2018 Whole genome sequencing of Neisseria meningitidis W isolates from the Czech Republic recovered in 1984-2017. BAST, IMD
1488  2018 Whole genome sequencing options for bacterial strain typing and epidemiologic analysis based on single nucleotide polymorphism versus gene-by-gene-based approaches. ---
1489  2018 Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma. NGS
1490  2018 Whole-exome mutational and transcriptional landscapes of combined hepatocellular cholangiocarcinoma and intrahepatic cholangiocarcinoma reveal molecular diversity. CHC, HCC, ICC, PLC, WES
1491  2018 Whole-Genome Analysis of an Extensively Drug-Resistant Acinetobacter baumannii Strain XDR-BJ83: Insights into the Mechanisms of Resistance of an ST368 Strain from a Tertiary Care Hospital in China. CC92, pBJ83, XDR
1492  2018 Whole-Genome Sequence Analysis of Multidrug-Resistant Campylobacter Isolates: a Focus on Aminoglycoside Resistance Determinants. ---
1493  2018 Whole-Genome Sequence of a Brucella melitensis Strain Isolated from Sheep in Saudi Arabia. ---
1494  2018 Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis. CNV, GS
1495  2018 Whole-Genome Sequencing and Bioinformatic Analysis of Isolates from Foodborne Illness Outbreaks of Campylobacter jejuni and Salmonella enterica. NGS, PFGE
1496  2018 Whole-Genome Sequencing and Genetic Analysis Reveal Novel Stress Responses to Individual Constituents of Essential Oils in Escherichia coli. EOs, ICs, SNPs, WT
1497  2018 Whole-genome sequencing based characterization of antimicrobial resistance in Enterococcus. ---
1498  2018 Whole-genome sequencing for methicillin-resistant Staphylococcus aureus (MRSA) outbreak investigation in a neonatal intensive care unit. cgMLST, HCWs, MRSA, NICU, PFGE
1499  2018 Whole-Genome Sequencing Identifies a Novel Variation of WAS Gene Coordinating With Heterozygous Germline Mutation of APC to Enhance Hepatoblastoma Oncogenesis. HB
1500  2018 Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease. COPD
1501  2018 Whole-Genome Sequencing of 84 Japanese Eels Reveals Evidence against Panmixia and Support for Sympatric Speciation. RISM, SNP
1502  2018 Whole-genome sequencing of Brassica oleracea var. capitata reveals new diversity of the mitogenome. mtDNAs
1503  2018 Whole-genome sequencing of Campylobacter jejuni isolated from Danish routine human stool samples reveals surprising degree of clustering. ---
1504  2018 Whole-Genome Sequencing of Recent Listeria monocytogenes Isolates from Germany Reveals Population Structure and Disease Clusters. cgMLST, SNP
1505  2018 Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. WES
1506  2018 Whole-genome sequencing revealed concurrent outbreaks of shigellosis in the English Orthodox Jewish Community caused by multiple importations of Shigella sonnei from Israel. HPD, MPCs, OJC, PHE, PT, SNPs
1507  2018 Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. ---
1508  2018 Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. ARHL
1509  2018 Whole-genome sequencing reveals transmission of gonococcal antibiotic resistance among men who have sex with men: an observational study. MLST, MSM, NG-MAST
1510  2018 [Application of Next Generation Sequencing in Genetic Diagnosis of Hereditary Platelet Disorders - Review]. NGS, TGS, WES
1511  2018 [Ethical dilemmas in a general practitioner's clinic due to incidental findings resulting from whole genome sequencing]. ---
1512  2018 [Genetic analysis of a fetus with partial 18p tetraploidy syndrome]. STR-QF-PCR
1513  2018 [Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancer]. PCPSs
1514  2018 [Investigation of Virulence Factors by "Omics" Approaches]. CNPA, PA
1515  2019 A Compendium of Mutational Signatures of Environmental Agents. ---
1516  2019 A Core Genome Multilocus Sequence Typing Scheme for Enterococcus faecalis. cgMLST, MLST
1517  2019 A crash course in sequencing for a microbiologist. NGS
1518  2019 A Diagnostic Algorithm To Investigate Pyrazinamide and Ethambutol Resistance in Rifampin-Resistant Mycobacterium tuberculosis Isolates in a Low-Incidence Setting. DST
1519  2019 A Novel VanA-Carrying Plasmid in a Clinical Isolate of Enterococcus avium. ARGs
1520  2019 A pilot precision medicine trial for children with diffuse intrinsic pontine glioma-PNOC003: A report from the Pacific Pediatric Neuro-Oncology Consortium. ctDNA, DIPG, H3K27M, RNA-Seq, WES
1521  2019 A series of three cases of severe Clostridium difficile infection in Australia associated with a binary toxin producing clade 2 ribotype 251 strain. CDI, MLST, RT, SNV, tcdA
1522  2019 A simple and accurate method to determine genomewide significance for association tests in sequencing studies. WES
1523  2019 A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. CDS, SDS
1524  2019 A virome-wide clonal integration analysis platform for discovering cancer viral etiology. BKV, EBV, HBV, HPV
1525  2019 Accuracy of imputation to whole-genome sequence in sheep. SNP
1526  2019 Advanced Genetic Approaches in Discovery and Characterization of Genes Involved With Osteoporosis in Mouse and Human. GWAS, GWLA, PheWAS
1527  2019 Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. AI, WES
1528  2019 Air-conditioner cooling towers as complex reservoirs and continuous source of Legionella pneumophila infection evidenced by a genomic analysis study in 2017, Switzerland. ACCT, cgMLST
1529  2019 ALPHLARD-NT: Bayesian Method for Human Leukocyte Antigen Genotyping and Mutation Calling through Simultaneous Analysis of Normal and Tumor Whole-Genome Sequence Data. HLA, WES
1530  2019 ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients. ---
1531  2019 An economic analysis of salmonella detection in fresh produce, poultry, and eggs using whole genome sequencing technology in Canada. ---
1532  2019 An outbreak of severe invasive meningococcal disease due to a capsular switched Neisseria meningitidis hypervirulent strain B:cc11. IMD
1533  2019 An Outpatient Clinic as a Potential Site of Transmission for an Outbreak of New Delhi Metallo-beta-Lactamase-producing Klebsiella pneumoniae Sequence Type 716: A Study Using Whole-genome Sequencing. NDM
1534  2019 An unusual case of Erysipelothrix rhusiopathiae prosthetic joint infection from the Canadian Arctic: whole genome sequencing unable to identify a zoonotic source. ---
1535  2019 Analysis of mucosal melanoma whole-genome landscapes reveals clinically relevant genomic aberrations. MMs, PDX, SVs
1536  2019 Analysis of the type II-A CRISPR-Cas system in Streptococcus canis isolated from diseased companion animals and one human patient in Japan. ---
1537  2019 Apple whole genome sequences: recent advances and new prospects. ---
1538  2019 Applications of genomics to slow the spread of multidrug-resistant Neisseria gonorrhoeae. ---
1539  2019 Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results. ---
1540  2019 Beyond the SNP Threshold: Identifying Outbreak Clusters Using Inferred Transmissions. SNPs
1541  2019 Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. NGS
1542  2019 Blood group genotyping. RhIG
1543  2019 Carbapenem-resistant Pseudomonas aeruginosa carrying blaVIM-36 assigned to ST308: Indicated non-virulence in a Galleria mellonella model. MICs, MLST, PFGE, ST
1544  2019 Carriage meningococcal isolates with capsule null locus dominate among high school students in a non-endemic period, Italy, 2012-2013. CCs, cgMLST, cnl, fHbp, IMD, NadA, NHBA
1545  2019 Characterization of an NDM-19-producing Klebsiella pneumoniae strain harboring 2 resistance plasmids from China. CRKP, MGEs
1546  2019 Characterization of carbapenemase-producing Klebsiella oxytoca in Spain, 2016-2017. ---
1547  2019 Characterization of compensatory mutations associated with restoration of daptomycin-susceptibility in daptomycin non-susceptible methicillin-resistant Staphylococcus aureus and the role mprF mutations. CW, NS
1548  2019 Characterization of Emetic and Diarrheal Bacillus cereus Strains From a 2016 Foodborne Outbreak Using Whole-Genome Sequencing: Addressing the Microbiological, Epidemiological, and Bioinformatic Challenges. SNPs
1549  2019 Characterization of Plasmid-Mediated Quinolone Resistance in Gram-Negative Bacterial Strains from Animals and Humans in China. PMQR, PMQRs
1550  2019 Children with cystic fibrosis are infected with multiple subpopulations of Mycobacterium abscessus with different antimicrobial resistance profiles. CF, SNVs
1551  2019 Clinical and laboratory-induced colistin-resistance mechanisms in Acinetobacter baumannii. MDR, RNA-Seq, TCS, TraDIS
1552  2019 Clostridium difficile: Investigating Transmission Patterns Between Infected and Colonized Patients Using Whole Genome Sequencing. CDI
1553  2019 Co-circulation of multidrug-resistant Shigella among men who have sex with men, Australia. MDU PHL, MSM
1554  2019 Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. VCAs
1555  2019 Comparison of the Whole-Genome Sequence of an Oka Varicella Vaccine from China with Other Oka Vaccine Strains Reveals Sites Putatively Critical for Vaccine Efficacy. HZ, SNPs, VZV
1556  2019 Comparisons of whole genome sequencing and phenotypic drug susceptibility testing for Mycobacterium tuberculosis causing MDR-TB and XDR-TB in Thailand. DST, MDR, Mtb, pre-XDR, TB
1557  2019 Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing. UPD
1558  2019 Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. CCRs
1559  2019 Continuous culture of Escherichia coli, under selective pressure by a novel antimicrobial complex, does not result in development of resistance. ITC, LVX, MICs
1560  2019 Contribution of whole-genome sequencing to understanding of the epidemiology and control of meticillin-resistant Staphylococcus aureus. MRSA
1561  2019 CRISPR-Based Subtyping Using Whole Genome Sequence Data Does Not Improve Differentiation of Persistent and Sporadic Listeria monocytogenes Strains. PFGE, SPs
1562  2019 CRISPR/CAS9 targeted CAPTURE of mammalian genomic regions for characterization by NGS. CHO, NGS
1563  2019 Cross-Border Movement of Highly Drug-Resistant Mycobacterium tuberculosis from Papua New Guinea to Australia through Torres Strait Protected Zone, 2010-2015. TSPZ
1564  2019 Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. cDNA, ILFS2, NGS, RT-PCR
1565  2019 Delay in effective therapy in anidulafungin-resistant Candida tropicalis fungaemia: Potential for rapid prediction of antifungal resistance with whole-genome-sequencing. ---
1566  2019 Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases. BAFME, SVs
1567  2019 Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. KS, NGS, USH
1568  2019 Detection of extended-spectrum beta-lactam, AmpC and carbapenem resistance in Enterobacteriaceae in beef cattle in Great Britain in 2015. ESBL
1569  2019 Detection of the Novel optrA Gene Among Linezolid-Resistant Enterococci in Barcelona, Spain. MIC
1570  2019 Development of a SNP barcode to genotype Babesia microti infections. HRM, SNP
1571  2019 Different types of viral‑host junction found in HBV integration breakpoints in HBV‑infected patients. AHB, CHB, HBsAg, HBV
1572  2019 Disease management at the wildlife-livestock interface: using whole-genome sequencing to study the role of elk in Mycobacterium bovis transmission in Michigan, USA. bTB
1573  2019 Disentangling a complex nationwide Salmonella Dublin outbreak associated with raw-milk cheese consumption, France, 2015 to 2016. AOR, CI, MLVA, S. Dublin
1574  2019 Draft Genome Sequence of Weissella viridescens UCO-SMC3, Isolated from the Slime of Helix aspersa Muller Snails. ---
1575  2019 Draft genome sequences of KPC-2- and CTX-M-15-producing Klebsiella pneumoniae ST437 isolated from a clinical sample and urban rivers in Sao Paulo, Brazil. ST437
1576  2019 Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies. ARIC
1577  2019 Dynamics of clonal and plasmid backgrounds of Enterobacteriaceae producing acquired AmpC in Portuguese clinical settings over time. ESBLs, MLST, PFGE
1578  2019 Early Detection of Emergent Extensively Drug-Resistant Tuberculosis by Flow Cytometry-Based Phenotyping and Whole-Genome Sequencing. SNPs, TB, XDR-TB
1579  2019 Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly. stLFR
1580  2019 Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. SKAT, SMMAT, TOPMed
1581  2019 Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data. ---
1582  2019 Environmental and Clinical Strains of Vibrio cholerae Non-O1, Non-O139 From Germany Possess Similar Virulence Gene Profiles. TCP, TTSS
1583  2019 Environmental dissemination of mcr-1 positive Enterobacteriaceae by Chrysomya spp. (common blowfly): An increasing public health risk. AMR, MCRPEC, MCRPKP, SNPs
1584  2019 Epidemiological Typing of Serratia marcescens Isolates by Whole-Genome Multilocus Sequence Typing. NICUs, wgMLST
1585  2019 Epidemiology and Whole-Genome Analysis of NDM-1-Producing Klebsiella pneumoniae KP3771 from Tunisia. ---
1586  2019 Epidemiology of paediatric gastrointestinal colonisation by extended spectrum cephalosporin-resistant Escherichia coli and Klebsiella pneumoniae isolates in north-west Cambodia. ESC-R, ESC-R-EC
1587  2019 ERVcaller: Identifying polymorphic endogenous retrovirus and other transposable element insertions using whole-genome sequencing data. ERVs, TE
1588  2019 Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns. ---
1589  2019 Evaluation of a gene-by-gene approach for prospective whole-genome sequencing-based surveillance of multidrug resistant Mycobacterium tuberculosis. AD
1590  2019 Evaluation of an 'all-in-one' seven-day whole-genome sequencing solution in the investigation of a Staphylococcus aureus outbreak in a neonatal intensive care unit. MLST, NICU, wgSNP
1591  2019 Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data. CNV, FDR
1592  2019 Evaluation of whole genome sequencing and software tools for drug susceptibility testing of Mycobacterium tuberculosis. MGIT
1593  2019 Evaluation of Whole Genome Sequencing Data. ---
1594  2019 Evolution of Genomic Base Composition: From Single Cell Microbes to Multicellular Animals. gBGC
1595  2019 Evolutionary and Genomic Insights into Clostridioides difficile Sequence Type 11: a Diverse Zoonotic and Antimicrobial-Resistant Lineage of Global One Health Importance. CDI, RT078, SNV, ST11
1596  2019 Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait. HRC
1597  2019 Exploring the landscape of focal amplifications in cancer using AmpliconArchitect. AA, FISH, FOXE1
1598  2019 Extensive drug resistant Salmonella enterica serovar Senftenberg carrying blaNDM encoding plasmid p5558 (IncA/C) from India. NTS
1599  2019 False-Positive Carbapenem-Hydrolyzing Confirmatory Tests Due to ACT-28, a Chromosomally Encoded AmpC with Weak Carbapenemase Activity from Enterobacter kobei. Carba NP, CPE, ECC
1600  2019 Fecal Carriage and Whole-Genome Sequencing-Assisted Characterization of CMY-2 Beta-Lactamase-Producing Escherichia coli in Calves at Czech Dairy Cow Farm. CREC, ESBL
1601  2019 First report of Salmonella 1,4,[5],12:i:- in free-ranging striped dolphins (Stenella coeruleoalba), Italy. MLVA, SNP
1602  2019 First report of the new emerging global clone ST1193 among clinical isolates of extended-spectrum ss-lactamase (ESBL)-producing Escherichia coli from Germany. MLST, ST1193
1603  2019 FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data. LDL
1604  2019 Gen2Epi: an automated whole-genome sequencing pipeline for linking full genomes to antimicrobial susceptibility and molecular epidemiological data in Neisseria gonorrhoeae. AMR
1605  2019 Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit. ES, GWS, IFs, NICU
1606  2019 Genetic counseling for consumer-driven whole exome and whole genome sequencing: A commentary on early experiences. WES
1607  2019 Genetic Determinants and Prediction of Antibiotic Resistance Phenotypes in Helicobacter pylori. DST, SNPs
1608  2019 Genetic Diversity of Salmonella Derby from the Poultry Sector in Europe. MLST, S. Derby, SNPs, UK
1609  2019 Genetic environment of colistin resistance genes mcr-1 and mcr-3 in Escherichia coli from one pig farm in China. DST
1610  2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. ADEs, EHR, SNVs
1611  2019 Genetics of platelet traits in ischaemic stroke: focus on mean platelet volume and platelet count. GWAS, MPV, PheWAS, PLT, WES
1612  2019 Genome Sequencing and Annotation of Bacillus subtilis UBBS-14 to Ensure Probiotic Safety. ---
1613  2019 Genome Sequencing and Interrogation of Genome Databases: A Guide to Neisseria meningitidis Genomics. ---
1614  2019 Genome sequencing of strains of the most prevalent clonal group of O1:K1:H7 Escherichia coli that causes neonatal meningitis in France. NMEC, STc
1615  2019 Genome-wide analysis of flanking sequences reveals thatTnt1 insertion is positively correlated with gene methylation in Medicago truncatula. FSTs, Mt4.0
1616  2019 GenomeGraphR: A user-friendly open-source web application for foodborne pathogen whole genome sequencing data integration, analysis, and visualization. ---
1617  2019 Genomic analysis of methicillin-resistant Staphylococcus aureus isolated from poultry and occupational farm workers in Umgungundlovu District, South Africa. MDR, MGE, MRSA
1618  2019 Genomic and molecular characterization of preterm birth. DEGs, PTB, VEPTB
1619  2019 Genomic approaches used to investigate an atypical outbreak of Salmonella Adjame. cgMLST
1620  2019 Genomic Drivers of Poor Prognosis and Enzalutamide Resistance in Metastatic Castration-resistant Prostate Cancer. GSEA, mCRPC, OS
1621  2019 Genomic epidemiology of MRSA infection and colonization isolates among military trainees with skin and soft tissue infection. MRSA, SNV, SSTI
1622  2019 Genomic insights of Vibrio harveyi RT-6 strain, from infected "Whiteleg shrimp" (Litopenaeus vannamei) using Illumina platform. COG, GO, KEGG, VFDB
1623  2019 Genomic prediction of tuberculosis drug-resistance: benchmarking existing databases and prediction algorithms. Mtb, TB
1624  2019 Genotype-free estimation of allele frequencies reduces bias and improves demographic inference from RADSeq data. RAD-seq
1625  2019 Genotypes and Antimicrobial Susceptibility Profiles of Hemolytic Escherichia coli from Diarrheic Piglets. ESBL, ETEC, STs
1626  2019 Genotyping by sequencing can reveal the complex mosaic genomes in gene pools resulting from reticulate evolution: a case study in diploid and polyploid citrus. DSNPs
1627  2019 Genus-wide Leptospira core genome multilocus sequence typing for strain taxonomy and global surveillance. CG, cgMLST, cgST
1628  2019 Gut microbiome meta-analysis reveals dysbiosis is independent of body mass index in predicting risk of obesity-associated CRC. CRC
1629  2019 H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. SVs
1630  2019 Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition. GWAS, lncRNA, SNP, TF
1631  2019 High acquisition rate of extended-spectrum beta-lactamase-producing Enterobacteriaceae among French military personnel on mission abroad, without evidence of inter-individual transmission. ESBL-E, rep-PCR, SNP
1632  2019 High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia. HCAs, NGS
1633  2019 Hospital outbreak due to Clostridium difficile ribotype 018 (RT018) in Southern Germany. CDI, MLVA, RT018
1634  2019 Identification and typing of Yersinia enterocolitica and Yersinia pseudotuberculosis isolated from human clinical specimens in England between 2004 and 2018. ---
1635  2019 Identification of Genomic Alterations Through Multilevel DNA Structural Analysis. ---
1636  2019 Identification of rare variants predisposing to thyroid cancer. FNMTC, NMTC
1637  2019 Identifying genes associated with invasive disease in S. pneumoniae by applying a machine learning approach to whole genome sequence typing data. ---
1638  2019 Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing. ASD, GO
1639  2019 Impact of whole genome sequencing on the investigation of food-borne outbreaks of Shiga toxin-producing Escherichia coli serogroup O157:H7, England, 2013 to 2017. STEC
1640  2019 In Silico Serotyping Based on Whole-Genome Sequencing Improves the Accuracy of Shigella Identification. EIEC
1641  2019 Insights from genome-wide approaches to identify variants associated to phenotypes at pan-genome scale: Application to L. monocytogenes' ability to grow in cold conditions. CC, MGE, QMRA
1642  2019 Integration of genomic and clinical data augments surveillance of healthcare-acquired infections. ---
1643  2019 Intracranial Ewing sarcoma with whole genome study. CNS, ES, EWS, Fli-1
1644  2019 Investigating transmission of Mycobacterium abscessus amongst children in an Australian cystic fibrosis centre. CF, SNPs
1645  2019 Investigation of an outbreak caused by antibiotic-susceptible Klebsiella oxytoca in a neonatal intensive care unit in Norway. NICU
1646  2019 Investigation of false-positive Mycobacterium tuberculosis culture tests using whole genome sequencing. SNPs, TB
1647  2019 Isolation and characterization of bacteriophages active against methicillin-resistant Staphylococcus pseudintermedius. MRSP, MSSP
1648  2019 Isolation of Salmonella enterica serovar Agona strains and their similarities to strains derived from a clone caused a serovar shift in broilers. ML tree, MST, PFGE, SNP
1649  2019 KBG syndrome presenting with brachydactyly type E. ---
1650  2019 Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. BP, CFS, TOPMed
1651  2019 Listeria monocytogenes isolates from ready to eat plant produce are diverse and have virulence potential. LIPI-3, MLST, PMSC, SNP, STs
1652  2019 Managing the Unimaginable: Biobank Participant Views on Reconsent for Whole Genome Sequencing of Stored Biospecimens. ---
1653  2019 Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error. MIC
1654  2019 Metagenome to phenome approach enables isolation and genomics characterization of Kalamiella piersonii gen. nov., sp. nov. from the International Space Station. ISS, MRG
1655  2019 Methanogens as emerging pathogens in anaerobic abscesses. MALDI-TOF MS, PCR
1656  2019 mGAP: the macaque genotype and phenotype resource, a framework for accessing and interpreting macaque variant data, and identifying new models of human disease. mGAP, NHPs, OMIM
1657  2019 Molecular analysis of clonally related Salmonella Typhi recovered from epidemiologically unrelated cases of typhoid fever, Brazil. ND, PFGE, wgMLST
1658  2019 Molecular and genomic typing for tuberculosis surveillance: A survey study in 26 European countries. TB
1659  2019 Molecular characterization of a nosocomial outbreak of influenza B virus in an acute care hospital setting. INF B, NPS
1660  2019 Molecular classification of neuroendocrine tumors of the thymus. CNI, ENETS, LCNEC, PNET, SCC, TC and AC, TNET, WHO
1661  2019 Molecular diagnosis and enrichment culture identified a septic pseudoarthrosis due to an infection with Erysipelatoclostridium ramosum. ---
1662  2019 Molecular Epidemiology of Candida auris in Colombia Reveals a Highly Related, Countrywide Colonization With Regional Patterns in Amphotericin B Resistance. AFST, AmB
1663  2019 Multicenter Study of Cronobacter sakazakii Infections in Humans, Europe, 2017. ---
1664  2019 Multidrug-Resistant Salmonella enterica Isolated from Food Animal and Foodstuff May Also Be Less Susceptible to Heavy Metals. AMR, MDR
1665  2019 Multiresolution correction of GC bias and application to identification of copy number alterations. DOC
1666  2019 Mycobacterium ulcerans Population Genomics To Inform on the Spread of Buruli Ulcer across Central Africa. ---
1667  2019 Nanopore ultra-long read sequencing technology for antimicrobial resistance detection in Mannheimia haemolytica. CARD, MIC, RAST
1668  2019 Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries. SV
1669  2019 Next-Generation Sequencing Accelerates Crop Gene Discovery. BSA, NGS, WGR
1670  2019 Next-generation sequencing based hospital outbreak investigation yields insight into Klebsiella aerogenes population structure and determinants of carbapenem resistance and pathogenicity. CICU, CR-KA
1671  2019 Nontuberculous mycobacteria: Insights on taxonomy and evolution. NTM
1672  2019 Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. GDD
1673  2019 Operational models and criteria for incorporating microbial whole genome sequencing in hospital microbiology - A systematic literature review. ---
1674  2019 Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. ---
1675  2019 Overcoming the pitfalls of automatic interpretation of whole genome sequencing data by online tools for the prediction of pyrazinamide resistance in Mycobacterium tuberculosis. DST, PZA, TB
1676  2019 Pandemic spread of blaKPC-2 among Klebsiella pneumoniae ST11 in China is associated with horizontal transfer mediated by IncFII-like plasmids. KPC-Kp, MGEs, MLST, PFGE
1677  2019 Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing. NGS
1678  2019 PCR-Dipstick-Oriented Surveillance and Characterization of mcr-1- and Carbapenemase-Carrying Enterobacteriaceae in a Thai Hospital. CPE, MCRPEn, PFGE
1679  2019 Perspectives of Australian policy-makers on the potential benefits and risks of technologically enhanced communicable disease surveillance - a modified Delphi survey. ---
1680  2019 Phylogenetic analysis of Mycobacterium tuberculosis strains in Wales using core genome MLST to analyse whole genome sequencing data. cgMLST, SNP
1681  2019 Phylogenomic Pipeline Validation for Foodborne Pathogen Disease Surveillance. PFGE
1682  2019 Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series. ---
1683  2019 PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease. ADPKD, NGS, WES
1684  2019 Pleiotropy informed adaptive association test of multiple traits using GWAS summary data. GWAS, TOPMed
1685  2019 Prospective genomic surveillance of methicillin-resistant Staphylococcus aureus (MRSA) associated with bloodstream infection, England, 1 October 2012 to 30 September 2013. BSI, CC, MRSA
1686  2019 Prospective investigation of carbapenem-resistant Klebsiella pneumonia transmission among the staff, environment and patients in five major intensive care units, Beijing. CRKP, ICUs, PFGE, RT-NISS
1687  2019 Quantitative Mass Spectrometry to Interrogate Proteomic Heterogeneity in Metastatic Lung Adenocarcinoma and Validate a Novel Somatic Mutation CDK12-G879V. CNA
1688  2019 Rapid and Simple Universal Escherichia coli Genotyping Method Based on Multiple-Locus Variable-Number Tandem-Repeat Analysis Using Single-Tube Multiplex PCR and Standard Gel Electrophoresis. ECOR, MLST, PFGE, rep-PCR, ST131, STEC, VNTR
1689  2019 Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. CNVs, NDDs
1690  2019 Rare variants in MYH15 modify amyotrophic lateral sclerosis risk. ALS, SALS
1691  2019 RB1 Heterogeneity in Advanced Metastatic Castration-Resistant Prostate Cancer. IPMH, mCRPC
1692  2019 Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. MHC
1693  2019 Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure. ACM, PKP2
1694  2019 Rediscovering the value of families for psychiatric genetics research. ---
1695  2019 Regional outbreak of community-associated methicillin-resistant Staphylococcus aureus ST834 in Japanese children. CA-MRSA, PFGE, SCCmec, ST
1696  2019 Relationship between tetracycline antibiotic susceptibility and genotype in oral cavity Lactobacilli clinical isolates. MIC, Tetr
1697  2019 Reliable multiplex sequencing with rare index mis-assignment on DNB-based NGS platform. DNB
1698  2019 Report of a Case that Expands the Phenotype of Infantile Krabbe Disease. WES
1699  2019 Retrospective whole-genome sequencing analysis distinguished PFGE and drug-resistance-matched retail meat and clinical Salmonella isolates. AMR, AST, PFGE, SNP
1700  2019 Return of individual genomic research results: are laws and policies keeping step? ---
1701  2019 Role and value of whole genome sequencing in studying tuberculosis transmission. MTBC, TB
1702  2019 Segregated expressions of autism risk genes Cdh11 and Cdh9 in autism-relevant regions of developing cerebellum. ASD, GWAS, ISH
1703  2019 Sequencing and curation strategies for identifying candidate glioblastoma treatments. PPV, WGA
1704  2019 Sequencing of human genomes with nanopore technology. ONT, SNV
1705  2019 Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. MMDS2, PDH
1706  2019 Shiga toxin-producing Escherichia coli (STEC) isolated from fecal samples of African dromedary camels. HC, HUS, MLST, ST, STEC
1707  2019 Similarities and differences between variants called with human reference genome HG19 or HG38. GIAB, NGS
1708  2019 Simple assay to detect Central Asia Outbreak clade of Mycobacterium tuberculosis Beijing genotype. CAO
1709  2019 Simplified Model to Survey Tuberculosis Transmission in Countries Without Systematic Molecular Epidemiology Programs. MIRU-VNTR
1710  2019 Social network analysis and whole genome sequencing in a cohort study to investigate TB transmission in an educational setting. CI, LTBI, SNP
1711  2019 Staphylococcus pseudintermedius septicemia in puppies after elective cesarean section: confirmed transmission via dam's milk. ---
1712  2019 Strategies for Pathway Analysis Using GWAS and WGS Data. GWAS, SNPs
1713  2019 Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data. ESCs, GEM, KO, NGS, WES
1714  2019 Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. EMGs, gnomAD, NB, TSCA
1715  2019 Targeting discriminatory SNPs in Salmonella enterica serovar Heidelberg genomes using RNase H2-dependent PCR. rhPCR, SH, SNPs
1716  2019 The Development of a Vaccine Against Meningococcus B Using Reverse Vaccinology. MenB
1717  2019 The epidemiology of Shiga toxin-producing Escherichia coli infections in the South East of England: November 2013-March 2017 and significance for clinical and public health. GBRU, HUSEC, STEC, stx
1718  2019 The Future of TB Resistance Diagnosis: The Essentials on Whole Genome Sequencing and Rapid Testing Methods. NGS
1719  2019 The Genetic Variability of APOE in Different Human Populations and Its Implications for Longevity. AD, APOE, CVD, GWAS
1720  2019 The global dissemination of bacterial infections necessitates the study of reverse genomic epidemiology. ---
1721  2019 The use of next generation sequencing for improving food safety: Translation into practice. MLST, NGS, SNP
1722  2019 The use of Online Tools for Antimicrobial Resistance Prediction by Whole Genome Sequencing in MRSA and VRE. AMR, MRSA, VRE
1723  2019 TORMES: an automated pipeline for whole bacterial genome analysis. HTS, MLST
1724  2019 Tracking Staphylococcus aureus in ICU using Whole-Genome Sequencing. ICU, SNP
1725  2019 Transmission dynamics study of tuberculosis isolates with whole genome sequencing in southern Sweden. MIRU-VNTR, SNPs, TB
1726  2019 Tryptophan usage by Helicobacter pylori differs among strains. MLST, RAPD, TCE
1727  2019 UltraStrain: An NGS-Based Ultra Sensitive Strain Typing Method for Salmonella enterica. NGS, PFGE, S. enterica
1728  2019 Use of MALDI-TOF mass spectrometry to detect nosocomial outbreaks of Serratia marcescens and Citrobacter freundii. MS, NICU
1729  2019 Use of whole-genome sequencing to predict Mycobacterium tuberculosis drug resistance in Indonesia. DST, HIV, MDR, TB, XDR
1730  2019 Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis. AChRs, EOMs, GATK, MG, OP-MG
1731  2019 Utility of Whole Genome Sequencing To Describe the Persistence and Evolution of Listeria monocytogenes Strains within Crabmeat Processing Environments Linked to Two Outbreaks of Listeriosis. ---
1732  2019 Validation of a Bioinformatics Workflow for Routine Analysis of Whole-Genome Sequencing Data and Related Challenges for Pathogen Typing in a European National Reference Center: Neisseria meningitidis as a Proof-of-Concept. ---
1733  2019 Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. ---
1734  2019 Whole Genome Sequence Analysis of Burkholderia contaminans FFH2055 Strain Reveals the Presence of Putative beta-Lactamases. Bcc, CF, ESBL
1735  2019 Whole genome sequencing confirms source of pathogens associated with bacterial foodborne illness in pets fed raw pet food. ---
1736  2019 Whole genome sequencing identifies bacterial factors affecting transmission of multidrug-resistant tuberculosis in a high-prevalence setting. DR, Mtb
1737  2019 Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology. GWAS
1738  2019 Whole genome sequencing of Escherichia coli isolated from contaminated meat samples collected from the Northern Region of Ghana revealed the presence of multidrug resistant genes. DDST, E. coli, ESBL, MDR, ST
1739  2019 Whole Genome Sequencing of Extended Spectrum beta-lactamase (ESBL)-producing Klebsiella pneumoniae Isolated from Hospitalized Patients in KwaZulu-Natal, South Africa. CRISPR, ESBL
1740  2019 Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility. UVR
1741  2019 Whole Genome Sequencing of Mycobacterium tuberculosis Clinical Isolates From India Reveals Genetic Heterogeneity and Region-Specific Variations That Might Affect Drug Susceptibility. ---
1742  2019 Whole genome sequencing reveals a prolonged and spatially spread nosocomial outbreak of Panton-Valentine leucocidin-positive meticillin-resistant Staphylococcus aureus (USA300). HCWs, MRSA, PVL
1743  2019 Whole genome sequencing reveals complexity in both HPV sequences present and HPV integrations in HPV-positive oropharyngeal squamous cell carcinomas. HPV, OPSCC
1744  2019 Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms. CMT, NMD, RT-PCR, RV, UDN, WES
1745  2019 Whole genome sequencing reveals rare off-target mutations and considerable inherent genetic or/and somaclonal variations in CRISPR/Cas9-edited cotton plants. Ne, PAM, SNPs, WT
1746  2019 Whole genome sequencing reveals resemblance between ESBL-producing and carbapenem resistant Klebsiella pneumoniae isolates from Austrian rivers and clinical isolates from hospitals. cgMLST
1747  2019 Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. ---
1748  2019 Whole genome sequencing reveals Trans-European spread of an epidemic Neisseria meningitidis serogroup W clone. ---
1749  2019 Whole genome sequencing uses for foodborne contamination and compliance: Discovery of an emerging contamination event in an ice cream facility using whole genome sequencing. SNPs
1750  2019 Whole genome sequencing-based analysis of tuberculosis (TB) in migrants: rapid tools for cross-border surveillance and to distinguish between recent transmission in the host country and new importations. ASO-PCR, MIRU-VNTR, SNPs, TB
1751  2019 Whole-genome and targeted sequencing of drug-resistant Mycobacterium tuberculosis on the iSeq100 and MiSeq: A performance, ease-of-use, and cost evaluation. IVDs, NGS, TB
1752  2019 Whole-Genome Sequences of Five Acinetobacter baumannii Strains From a Child With Leukemia M2. HAIs, MDR, MLST, PFGE, SNVs
1753  2019 Whole-genome sequencing data-based modeling for the investigation of an outbreak of community-associated methicillin-resistant Staphylococcus aureus in a neonatal intensive care unit in Hong Kong. CA-MRSA, NICU
1754  2019 Whole-Genome Sequencing for Characterization of Capsule Locus and Prediction of Serogroup of Invasive Meningococcal Isolates. cps, IS, RT-PCR, SASG
1755  2019 Whole-Genome Sequencing for Predicting Clarithromycin Resistance in Mycobacterium abscessus. CI, SNPs
1756  2019 Whole-Genome Sequencing in Cancer. ---
1757  2019 Whole-genome sequencing in the investigation of recurrent invasive group A streptococcus outbreaks in a maternity unit. GAS, iGAS
1758  2019 Whole-genome sequencing of the rare Salmonella enterica serovar Anfo isolated from food handlers. ---
1759  2019 Whole-Genome Sequencing of Two Extensively Drug-Resistant Mycobacterium tuberculosis Isolates from India. XDR-TB
1760  2019 Whole-genome sequencing revealed independent emergence of vancomycin-resistant Enterococcus faecium causing sequential outbreaks over 3years in a tertiary care hospital. CC17, ST, VREfm
1761  2019 Young adults' attitudes to sharing whole-genome sequencing information: a university-based survey. STEMM
1762  2019 [Clinical characteristics of human adenovirus type 7 pneumonia and genetic characteristics of human adenovirus type 7]. ARDS, CK, HAdV7
1763  2019 [Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D]. MLPA