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■ Abbreviation / Long Form : NGS / next-generation sequencing

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Abbreviation:   NGS  (>> Co-occurring Abbreviation)
Long Form:   next-generation sequencing
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2021 Application of Next Generation Sequencing in Laboratory Medicine. ---
2021 Identification of MicroRNAs and Natural Antisense Transcript-Originated Endogenous siRNAs from Small-RNA Deep Sequencing Data. nat-siRNAs
2020 28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders. ADPKD
2020 3D Cell Culture-Based Global miRNA Expression Analysis Reveals miR-142-5p as a Theranostic Biomarker of Rectal Cancer Following Neoadjuvant Long-Course Treatment. ---
2020 A 124-plex Microhaplotype Panel Based on Next-generation Sequencing Developed for Forensic Applications. STR
2020 A Bioinformatics Pipeline to Accurately and Efficiently Analyze the MicroRNA Transcriptomes in Plants. miRNAs, nt, siRNAs, sRNAs
2020 A Comparative Analysis of Tumors and Plasma Circulating Tumor DNA in 145 Advanced Cancer Patients Annotated by 3 Core Cellular Processes. CF, CS, GM
2020 A comparison between SOLiD 5500XLand Ion Torrent PGM-derived miRNA expression profiles in two breast cell lines. ---
2020 A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology. CNS, CNV, FFPE, InDel, LOH
10  2020 A Comprehensive Genomics Solution for HIV Surveillance and Clinical Monitoring in Low-Income Settings. ---
11  2020 A Comprehensive Molecular Characterization of the Pancreatic Neuroendocrine Tumor Cell Lines BON-1 and QGP-1. IT, miRs, MLP, panNET
12  2020 A critical review on exploiting the pharmaceutical potential of plant endophytic fungi. MLST
13  2020 A cross-sectional study to characterize local HIV-1 dynamics in Washington, DC using next-generation sequencing. DRMs, env, pol
14  2020 A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study. ACMG
15  2020 A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing. ---
16  2020 A data-driven approach to build a predictive model of cancer patients' disease outcome by utilizing co-expression networks. CLL, RNA-Seq
17  2020 A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics. ---
18  2020 A Distinctive microRNA (miRNA) Signature in the Blood of Colorectal Cancer (CRC) Patients at Surgery. CRC, dd-RT-PCR, LB, miRNA, miRNAs, Tf-D
19  2020 A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism. ACC, SHH
20  2020 A Fast and Scalable Workflow for SNPs Detection in Genome Sequences Using Hadoop Map-Reduce. SNP
21  2020 A genomic survey of sarcomas on sun-exposed skin reveals distinctive candidate drivers and potentially targetable mutations. AFX, LMS, PDS, SCC
22  2020 A Guide to Understanding "State-of-the-Art" Basic Research Techniques in Anesthesiology. CRISPR, iPSCs
23  2020 A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report. BOFS, NMD
24  2020 A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. CNVs, ES
25  2020 A long road/read to rapid high-resolution HLA typing: The nanopore perspective. ONT
26  2020 A low-bias and sensitive small RNA library preparation method using randomized splint ligation. 2'OMe, miRNA
27  2020 A Method for Identification of the Methylation Level of CpG Islands From NGS Data. ---
28  2020 A multicenter real-world study of tumor-derived DNA from pleural effusion supernatant in genomic profiling of advanced lung cancer. MSAF, PE
29  2020 A mutation can hide another one: Think Structural Variants! SNVs, SVs
30  2020 A New Method for Next-Generation Sequencing of the Full Hepatitis B Virus Genome from A Clinical Specimen: Impact for Virus Genotyping. HBV
31  2020 A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined. CGH, CSS
32  2020 A next-generation sequencing based method for determining genetic stability in Clostridium tetani vaccine strains. IMI2, PFGE
33  2020 A novel approach for the forensic diagnosis of drowning by microbiological analysis with next-generation sequencing and unweighted UniFrac-based PCoA. PCoA
34  2020 A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. ACMG, HL
35  2020 A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology. BD, ct-p150Glued, DCTN1, MDD, NMD, PTC
36  2020 A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease. CHD, WES
37  2020 A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. ---
38  2020 A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report. BAM, GC/MS, PA, PCC
39  2020 A novel GABRB3 variant in Dravet syndrome: Case report and literature review. DS, EEs, LGS, MAE, WS
40  2020 A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing. ATP7B, MLPA, WD
41  2020 A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs. HCM, PDA
42  2020 A novel LRRFIP1-ALK fusion in inflammatory myofibroblastic tumor of hip and response to crizotinib. ALK, IMT
43  2020 A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage. RMSF, SMCD
44  2020 A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. CdLS
45  2020 A novel multiplexed 11 locus HLA full gene amplification assay using next generation sequencing. HSCT
46  2020 A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. ATP, IR, PCOS, PPi, PRPP, PRS-1, R5P
47  2020 A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon. ---
48  2020 A Novel Next-Generation Sequencing and Analysis Platform to Assess the Identity of Recombinant Adeno-Associated Viral Preparations from Viral DNA Extracts. rAAV
49  2020 A novel Next-Generation Sequencing-based approach for concurrent detection of mitochondrial DNA copy number and mutation. FFPE, mtDNA, nDNA, qPCR
50  2020 A novel NGS library preparation method to characterize native termini of fragmented DNA. ---
51  2020 A Novel Oncogenic Driver in a Lung Adenocarcinoma Patient Harboring an EGFR-KDD and Response to Afatinib. EGFR, EGFR-KDD, NSCLC
52  2020 A novel ROS1 G2032 K missense mutation mediates lorlatinib resistance in a patient with ROS1-rearranged lung adenocarcinoma but responds to nab-paclitaxel plus pembrolizumab. NSCLC, SLN
53  2020 A novel SOS1-ALK fusion variant in a patient with metastatic lung adenocarcinoma and a remarkable response to crizotinib. ALK, NSCLC
54  2020 A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia. ---
55  2020 A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics. BCP-ALL
56  2020 A novel universal primer pair for prokaryotes with improved performances for anammox containing communities. ---
57  2020 A novel variant in C5ORF42 gene is associated with Joubert syndrome. JS
58  2020 A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. TGFBI
59  2020 A Phase II Study of Avelumab Monotherapy in Patients with Mismatch Repair-Deficient/Microsatellite Instability-High or POLE-Mutated Metastatic or Unresectable Colorectal Cancer. IHC, mCRC, MSI-H, ORR, PCR
60  2020 A practical application of generative adversarial networks for RNA-seq analysis to predict the molecular progress of Alzheimer's disease. AD, GANs
61  2020 A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing. WGS
62  2020 A prospective multicenter phase II study on the efficacy and safety of dasatinib in the treatment of metastatic gastrointestinal stromal tumors failed by imatinib and sunitinib and analysis of NGS in peripheral blood. GIST, OS, PFS
63  2020 A Quarter Century of PCR-Applied Techniques and Their Still-Increasing Fields of Use. PCR
64  2020 A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants. AS-PCR, PD, WES
65  2020 A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21. FISH, NIPT, QF-PCR
66  2020 A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia. apoB, FHBL
67  2020 A real-time PCR assay to accurately quantify polar bear DNA in fecal extracts. qPCR
68  2020 A Real-Time PCR Screening Assay for Rapid Detection of Listeria Monocytogenes Outbreak Strains. IZSAM, PFGE
69  2020 A refined cell-of-origin classifier with targeted NGS and artificial intelligence shows robust predictive value in DLBCL. AI, COO, DLBCL, RNA-Seq
70  2020 A refractory case of CDK4-amplified spinal astrocytoma achieving complete response upon treatment with a Palbociclib-based regimen:a case report. CDK4
71  2020 A rigorous exploration of anal HPV genotypes using a next-generation sequencing (NGS) approach in HIV-infected men who have sex with men at risk for developing anal cancer. AC, HR, MSM
72  2020 A robust method for the rapid detection of microsatellite instability in colorectal cancer. CRC, MSI
73  2020 A Sample-to-Report Solution for Taxonomic Identification of Cultured Bacteria in the Clinical Setting Based on Nanopore Sequencing. LORCAN, ONT
74  2020 A semi-automated protocol for NGS metabarcoding and fungal analysis in forensic. ---
75  2020 A single droplet digital PCR for ESR1 activating mutations detection in plasma. AI, ddPCR, ESR1
76  2020 A smart polymer for sequence-selective binding, pulldown, and release of DNA targets. MeRPy
77  2020 A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience. PDA, RFS, TJU
78  2020 A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing. HLA, HSCT, PGD, SNP
79  2020 A Streamlined and High-Throughput Error-Corrected Next-Generation Sequencing Method for Low Variant Allele Frequency Quantitation. VAFs
80  2020 A study of 8,300-year-old Jomon human remains in Japan using complete mitogenome sequences obtained by next-generation sequencing. mtDNA
81  2020 A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically. LFS, PVs
82  2020 A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. ---
83  2020 A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer. BC, ET, PCR, PFS, PI3Ki
84  2020 A Systematic Review of the Root Canal Microbiota Associated with Apical Periodontitis: Lessons from Next-Generation Sequencing. AA, PAP, SAP
85  2020 A Systems Biology Approach for the Identification of Active Molecular Pathways During the Progression of Alzheimer's Disease. ---
86  2020 A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomas. TERTp
87  2020 A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature. CMV-PTC, FAP
88  2020 AAV-mediated FOXG1 gene editing in human Rett primary cells. AAVs, FOXG1, iPSCs, sgRNAs
89  2020 Absence of damaging effects of stem cell donation in unrelated donors assessed by FISH and gene variance screening. FISH, G-CSF, PBSC
90  2020 Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms. ---
91  2020 Acquired BRAF N581S mutation mediated resistance to gefitinib and responded to dabrafenib plus trametinib. EGFR 19del, PFS, TKIs
92  2020 Acquired multiple secondary BRCA2 mutations upon PARPi resistance in a metastatic pancreatic cancer patient harboring a BRCA2 germline mutation. gBRCAm, PARPi
93  2020 Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys. CVID, PI3K, PIDs
94  2020 Activating PIK3CA mutation promotes osteogenesis of bone marrow mesenchymal stem cells in macrodactyly. DLX5, PD-BMSCs
95  2020 Activation of the RAS pathway through uncommon BRAF mutations in mucinous pancreatic cysts without KRAS mutation. CEA, EUS-FNA, PCLs
96  2020 Acute myeloid leukemia or myelodysplastic syndrome with chromosome 17 abnormalities and long-term outcomes with or without hematopoietic stem cell transplantation. allo-HCT, AML, ch17, CR, HMA, MDS, OS
97  2020 Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study. ---
98  2020 ADAPT identifies an ESCRT complex composition that discriminates VCaP from LNCaP prostate cancer cell exosomes. ssODNs
99  2020 Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis. CS
100  2020 Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets. AF, aSPU, wAF