Concepedia

Structural Variant Detection

Structural Variant Detection is a computational method within genomic variant analysis that specifically identifies large-scale genomic alterations, such as deletions, duplications, inversions, and translocations, by distinguishing them from smaller variants through the analysis of sequencing data to infer structural differences in genome architecture.

226

Publications

47.6K

Citations

1.9K

Authors

601

Institutions

Publications per year

2017–2026

129

Parents

Publications

226

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

, , +17

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

Kai Ye, Marcel H. Schulz, Quan Long et al. · Bioinformatics · 2009 · 2.2K citations · Full text

, , +17

Accurate detection of complex structural variations using single-molecule sequencing

Fritz J. Sedlazeck, Philipp Rescheneder, Moritz Smolka et al. · Nature Methods · 2018 · 1.9K citations

, , +15

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer, Colby Chiang, Aaron R. Quinlan et al. · Genome biology · 2014 · 1.8K citations · Full text

, , +17

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

Ken Chen, John W. Wallis, Michael D. McLellan et al. · Nature Methods · 2009 · 1.6K citations

, , +14

1–5 of 226

Authors

1.9K

  1. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    15 publications · 3.4K citations

    15

    h-index

  2. EE
    Evan E. Eichler

    University of Washington, United States

    11 publications · 4.6K citations

    11

    h-index

  3. MC
    Michael C. Schatz

    Johns Hopkins University, United States

    8 publications · 2.5K citations

    8

    h-index

  4. YW
    Yadong Wang

    Harbin Institute of Technology, China

    6 publications · 741 citations

    8

    h-index

  5. FH
    Fereydoun Hormozdiari

    University of Washington, United States

    8 publications · 1.9K citations

    8

    h-index

1–5 of 1.9K

Institutions

601

  1. Baylor College of Medicine

    Houston, United States

    18 h-index

    81 publications

    14.4K citations

  2. Wellcome Sanger Institute

    Cambridge, United Kingdom

    17 h-index

    60 publications

    231.5K citations

  3. University of Washington

    Seattle, United States

    15 h-index

    94 publications

    50.8K citations

  4. Johns Hopkins University

    Baltimore, United States

    14 h-index

    55 publications

    10K citations

  5. Howard Hughes Medical Institute

    Chevy Chase, United States

    14 h-index

    38 publications

    23.7K citations

  6. Harvard University

    Cambridge, United States

    13 h-index

    83 publications

    49.9K citations

  7. Broad Institute

    Cambridge, United States

    12 h-index

    171 publications

    360K citations

  8. Pacific Biosciences (United States)

    Menlo Park, United States

    10 h-index

    49 publications

    9.4K citations

1–8 of 601

Venues

  1. Bioinformatics

    31 publications · 22.2K citations

    24

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 24 publications · 884 citations

    17

    h-index

  3. Genome biology

    16 publications · 4.9K citations

    17

    h-index

  4. PLoS ONE

    10 publications · 432 citations

    11

    h-index

  5. Nature Communications

    8 publications · 1.6K citations

    9

    h-index

1–5