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Abbreviation : SV
Long Form : structural variation
No. Year Title Co-occurring Abbreviation
2020 Comparison of Arachis monticola with Diploid and Cultivated Tetraploid Genomes Reveals Asymmetric Subgenome Evolution and Improvement of Peanut. A. monticola
2020 Inferring structural variant cancer cell fraction. PCAWG
2020 MsPAC: a tool for haplotype-phased structural variant detection. NGS
2020 Structural variant identification and characterization. ---
2020 Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing. bp
2020 Structural variation in the sequencing era. ---
2020 The effects of common structural variants on 3D chromatin structure. TADs, TBs
2019 A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. ---
2019 ChimeraMiner: An Improved Chimeric Read Detection Pipeline and Its Application in Single Cell Sequencing. MDA, WGA
10  2019 Comparison and Characterization of Mutations Induced by Gamma-Ray and Carbon-Ion Irradiation in Rice (Oryza sativa L.) Using Whole-Genome Resequencing. DSBs, SBS
11  2019 Computational Analysis of Structural Variation in Cancer Genomes. NGS
12  2019 Copy-number variation in goat genome sequence: A comparative analysis of the different litter size trait groups. CNV, HF, LF
13  2019 Detection of chromosome structural variation by targeted next-generation sequencing and a deep learning application. DL, NGS
14  2019 Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing. CDS, NGS, UTRs
15  2019 Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls. ---
16  2019 Evaluation of computational genotyping of structural variation for clinical diagnoses. ---
17  2019 From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. CMA, CNVs, HPO, SNVs, STR, UPD, WGS
18  2019 Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts. NGS, WHO
19  2019 Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients. NF2, VS
20  2019 Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma. BQ, InDels, OSCC
21  2019 Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries. WGS
22  2019 Single-cell analysis of structural variations and complex rearrangements with tri-channel processing. scTRIP
23  2019 Structural Variants as a Basis for Targeted Therapies in Hematological Malignancies. SNPs
24  2019 Structural variation and fusion detection using targeted sequencing data from circulating cell free DNA. cfDNA, ctDNA
25  2019 SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing. ---
26  2019 svtools: population-scale analysis of structural variation. ---
27  2019 The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia. APL, SNV
28  2019 The genomic pool of standing structural variation outnumbers single nucleotide polymorphism by threefold in the marine teleost Chrysophrys auratus. ---
29  2019 Whole genomes define concordance of matched primary, xenograft, and organoid models of pancreas cancer. PDAC, PDO, PDX
30  2018 A Pan-Cancer Compendium of Genes Deregulated by Somatic Genomic Rearrangement across More Than 1,400 Cases. CNA
31  2018 AnnotSV: an integrated tool for structural variations annotation. SNVs
32  2018 Cataloging Plant Genome Structural Variations. NGS
33  2018 Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline. SNVs
34  2018 Comprehensive description of genomewide nucleotide and structural variation in short-season soya bean. NGS
35  2018 Detection of circulating tumor DNA in patients with osteosarcoma. ctDNA, InDels, NGS, SNV
36  2018 Detection of genomic structural variations in Guizhou indigenous pigs and the comparison with other breeds. EUP, GZP, NPOG
37  2018 Difference of molecular alterations in HER2-positive and HER2-negative gastric cancers by whole-genome sequencing analysis. HER2, SCNV, SNV
38  2018 Genetic Control of Rod Bipolar Cell Number in the Mouse Retina. QTL, QTV, RBCs, RI
39  2018 Genome U-Plot: a whole genome visualization. WGS
40  2018 Genomic Structural Variations Within Five Continental Populations of Drosophila melanogaster. ---
41  2018 Identification of abnormal nuclear and mitochondrial genes in esophageal cancer cells. ESCC, InDels, mtDNA, SNPs
42  2018 Insertion sequence elements-mediated structural variations in bacterial genomes. IS, MA, MGEs
43  2018 Single-molecule DNA-mapping and whole-genome sequencing of individual cells. D-R
44  2018 Structural variation in the 3D genome. ---
45  2018 Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. CMT1A, IPNs, TADs
46  2018 SV-plaudit: A cloud-based framework for manually curating thousands of structural variants. VCF
47  2018 SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes. ---
48  2018 Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes. qPCR, WGS
49  2018 Use of RAPTR-SV to Identify SVs from Read Pairing and Split Read Signatures. CNV, SNP
50  2017 Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid humangenome. ASD, cxSV
51  2017 Detecting large deletions at base pair level by combining split read and paired read data. ---
52  2017 Detection and assessment of copy number variation using PacBio long-read and Illumina sequencing in New Zealand dairy cattle. CNV
53  2017 Detection and validation of structural variations in bovine whole-genome sequence data. WGS
54  2017 GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly. GRIDSS
55  2017 Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis. DMD, NGM, PCR
56  2017 Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters. NGS
57  2017 Seeksv: an accurate tool for somatic structural variation and virus integration detection. del
58  2017 Single-cell sequencing deciphers a convergent evolution of copy number alterations from primary to circulating tumor cells. CNA, CTCs, SNVs
59  2017 Somatic structural variations in pediatric brain tumors- an update. pHGG
60  2017 SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. ---
61  2017 SVmine improves structural variation detection by integrative mining of predictions from multiple algorithms. ---
62  2017 SVScore: an impact prediction tool for structural variation. SNP
63  2017 Toolkit for automated and rapid discovery of structural variants. HTS, WGS
64  2016 A 1.35Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. WGS
65  2016 A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muffs and Beard Phenotype in Chickens. GWA, IBD, Mb
66  2016 A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. ---
67  2016 Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry. ---
68  2016 Characterization of the Poplar Pan-Genome by Genome-Wide Identification of Structural Variation. CNV
69  2016 Fruiting Body Formation in Volvariella volvacea Can Occur Independently of Its MAT-A-Controlled Bipolar Mating System, Enabling Homothallic and Heterothallic Life Cycles. SSIs
70  2016 INTEGRATE: gene fusion discovery using whole genome and transcriptome data. HCC1395BL, NGS
71  2016 Intracellular mitochondrial DNA transfers to the nucleus in human cancer cells. mtDNA
72  2016 PopIns: population-scale detection of novel sequence insertions. ---
73  2016 Representing and decomposing genomic structural variants as balanced integer flows on sequence graphs. CNV, SNV
74  2016 Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms. NGS
75  2016 Transcription-coupled genetic instability marks acute lymphoblastic leukemia structural variation hotspots. AID, ALL, RAG
76  2015 A decade of structural variants: description, history and methods to detect structural variation. ---
77  2015 BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers. ---
78  2015 Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. LCRs, NAHR
79  2015 Human Structural Variation: Mechanisms of Chromosome Rearrangements. HERV, LINE, NAHR, NGS, WGS
80  2015 Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data. MS/MS
81  2015 Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. MODY, WGS
82  2015 PacBio Sequencing and Its Applications. SGS
83  2015 Population-based structural variation discovery with Hydra-Multi. ---
84  2015 Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project. ---
85  2015 Structural Variation (SV) Markers in the Basidiomycete Volvariella volvacea and Their Application in the Construction of a Genetic Map. SSIs
86  2015 Structural variation mutagenesis of the human genome: Impact on disease and evolution. CNV, SNV
87  2015 TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. HGSOC, HR, LOH
88  2015 Transposon Insertions, Structural Variations, and SNPs Contribute to the Evolution of the Melon Genome. SNPs
89  2014 A roadmap for functional structural variants in the soybean genome. ---
90  2014 An integrated genetic map based on four mapping populations and quantitative trait loci associated with economically important traits in watermelon (Citrullus lanatus). InDel, MAS, QTL, SNP, SSR
91  2014 Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. BCAs, CMA, CNVs, LOF
92  2014 Detecting rare structural variation in evolving microbial populations from new sequence junctions using breseq. LTEE, SN
93  2014 Discovery of somatic mutations in the progression of chronic myeloid leukemia by whole-exome sequencing. AP, BC, CML, SNV
94  2014 Genome survey sequencing provides clues into glucosinolate biosynthesis and flowering pathway evolution in allotetrapolyploid Brassica juncea. GSS, SNPs
95  2014 Gustaf: Detecting and correctly classifying SVs in the NGS twilight zone. NGS
96  2014 LUMPY: a probabilistic framework for structural variant discovery. ---
97  2014 MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping. MEIs
98  2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. PCR, SDS
99  2014 TE-Tracker: systematic identification of transposition events through whole-genome resequencing. PPV, TEs
100  2014 The Database of Genomic Variants: a curated collection of structural variation in the human genome. DGV