Concepedia

Variant Discovery

Variant Discovery is a computational genomics process that identifies deviations from a reference genome sequence, distinguishing itself by systematically detecting single nucleotide variants, insertions, deletions, and structural variations in DNA sequencing data.

281

Publications

63.1K

Citations

3.1K

Authors

676

Institutions

Publications per year

2017–2026

139

Parents

Publications

281

The variant call format and VCFtools

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

, , +17

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

, , +14

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Tobias Rausch, Thomas Zichner, Andreas Schlattl et al. · Bioinformatics · 2012 · 2.7K citations · Full text

, , +17

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 2.1K citations · Full text

, , +17

1–5 of 281

Authors

3.1K

  1. GM
    Gábor Marth

    University of Utah, United States

    6 publications · 19.5K citations

    6

    h-index

  2. AR
    Aaron R. Quinlan

    University of Utah, United States

    6 publications · 2.4K citations

    6

    h-index

  3. SL
    Susan L. Slager

    Mayo Clinic, United States

    5 publications · 146 citations

    5

    h-index

  4. LD
    Li Ding

    Washington University in St. Louis, United States

    5 publications · 1.4K citations

    5

    h-index

  5. JO
    Jan O. Korbel

    European Molecular Biology Laboratory, Germany

    5 publications · 4K citations

    5

    h-index

1–5 of 3.1K

Institutions

676

  1. Broad Institute

    Cambridge, United States

    14 h-index

    104 publications

    585.9K citations

  2. University of Utah

    Salt Lake City, United States

    14 h-index

    92 publications

    8.7K citations

  3. Harvard University

    Cambridge, United States

    14 h-index

    59 publications

    47.1K citations

  4. Johns Hopkins University

    Baltimore, United States

    12 h-index

    56 publications

    9.2K citations

  5. University of Washington

    Seattle, United States

    12 h-index

    79 publications

    13K citations

  6. Washington University in St. Louis

    St Louis, United States

    11 h-index

    75 publications

    8.4K citations

  7. Stanford University

    Stanford, United States

    11 h-index

    71 publications

    2.5K citations

  8. Massachusetts General Hospital

    Boston, United States

    10 h-index

    61 publications

    56.4K citations

1–8 of 676

Venues

  1. Bioinformatics

    23 publications · 22.1K citations

    19

    h-index

  2. BMC Bioinformatics

    18 publications · 2.4K citations

    16

    h-index

  3. BMC Genomics

    17 publications · 976 citations

    16

    h-index

  4. PLoS ONE

    16 publications · 467 citations

    13

    h-index

  5. Nucleic Acids Research

    10 publications · 524 citations

    10

    h-index

1–5