Concepedia

Variant Calling From Alignments

Variant Calling From Alignments is a computational method in genomics that identifies nucleotide-level genetic variants by analyzing discrepancies between sequenced reads and a reference genome within aligned sequence data.

351

Publications

69.9K

Citations

2.1K

Authors

671

Institutions

Publications per year

2017–2026

178

Parents

Publications

351

HTSeq—a Python framework to work with high-throughput sequencing data

Simon Anders, Paul Theodor Pyl, Wolfgang Huber · Bioinformatics · 2014 · 22.7K citations · Full text

, , +11

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

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

, , +17

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin, Pi-Chuan Chang, David H. Alexander et al. · Nature Biotechnology · 2018 · 1.9K citations

, , +14

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

Daniel C. Koboldt, Ken Chen, Todd Wylie et al. · Bioinformatics · 2009 · 1.4K citations · Full text

, , +17

1–5 of 351

Authors

2.1K

  1. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    11 publications · 790 citations

    10

    h-index

  2. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    8 publications · 2K citations

    8

    h-index

  3. EG
    Erik Garrison

    University of California, Santa Cruz, United States

    7 publications · 682 citations

    7

    h-index

  4. TM
    Tobias Marschall

    Heinrich Heine University Düsseldorf, Germany

    6 publications · 584 citations

    6

    h-index

  5. BS
    Brent S. Pedersen

    University of Utah, United States

    6 publications · 924 citations

    6

    h-index

1–5 of 2.1K

Institutions

671

  1. Harvard University

    Cambridge, United States

    16 h-index

    50 publications

    43.9K citations

  2. Baylor College of Medicine

    Houston, United States

    15 h-index

    59 publications

    4.4K citations

  3. Wellcome Sanger Institute

    Cambridge, United Kingdom

    13 h-index

    30 publications

    8.9K citations

  4. Broad Institute

    Cambridge, United States

    12 h-index

    57 publications

    230.2K citations

  5. Stanford University

    Stanford, United States

    12 h-index

    47 publications

    4.4K citations

  6. National Institutes of Health

    Bethesda, United States

    12 h-index

    37 publications

    3.6K citations

  7. Johns Hopkins University

    Baltimore, United States

    11 h-index

    33 publications

    2.9K citations

  8. University of Washington

    Seattle, United States

    10 h-index

    22 publications

    2.1K citations

1–8 of 671

Venues

  1. Bioinformatics

    55 publications · 28K citations

    31

    h-index

  2. BMC Genomics

    26 publications · 1.4K citations

    20

    h-index

  3. PLoS ONE

    18 publications · 1K citations

    17

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 25 publications · 2K citations

    17

    h-index

  5. BMC Bioinformatics

    18 publications · 868 citations

    16

    h-index

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