Concepedia

Bioinformatic Variant Calling

Bioinformatic Variant Calling is a computational methodology within liquid biopsy genetics that identifies and characterizes genetic variants from sequencing data by distinguishing true biological mutations from technical artifacts through algorithmic analysis.

47

Publications

2.4K

Citations

613

Authors

163

Institutions

Publications per year

2017–2026

27

Parents

Publications

47

A synthetic-diploid benchmark for accurate variant-calling evaluation

Heng Li, Jonathan M. Bloom, Yossi Farjoun et al. · Nature Methods · 2018 · 264 citations · Full text

, , +13

Structural variants in 3000 rice genomes

Roven Rommel Fuentes, Dmytro Chebotarov, Jorge Duitama et al. · Genome Research · 2019 · 206 citations · Full text

, , +16

Subclonal variant calling with multiple samples and prior knowledge

Moritz Gerstung, Elli Papaemmanuil, Peter J. Campbell · Bioinformatics · 2014 · 162 citations · Full text

, , +17

Want to track pandemic variants faster? Fix the bioinformatics bottleneck

Emma B. Hodcroft, Nicola De Maio, Robert Lanfear et al. · Nature · 2021 · 115 citations · Full text

, , +11

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon Sadedin, Harriet Dashnow, Paul A. James et al. · Genome Medicine · 2015 · 114 citations · Full text

, , +14

1–5 of 47

Authors

613

  1. BS
    Brent S. Pedersen

    University of Utah, United States

    3 publications · 158 citations

    3

    h-index

  2. AR
    Aaron R. Quinlan

    University of Utah, United States

    3 publications · 104 citations

    3

    h-index

  3. HM
    Hanna Marie Schilbert

    Bielefeld University, Germany

    2 publications · 79 citations

    2

    h-index

  4. TC
    Thomas C. Markello

    National Human Genome Research Institute, United States

    2 publications · 146 citations

    2

    h-index

  5. LA
    Lynne A. Wolfe

    National Human Genome Research Institute, United States

    2 publications · 146 citations

    2

    h-index

1–5 of 613

Institutions

163

  1. Harvard University

    Cambridge, United States

    4 h-index

    21 publications

    633 citations

  2. Stanford University

    Stanford, United States

    3 h-index

    33 publications

    1K citations

  3. University of Utah

    Salt Lake City, United States

    3 h-index

    36 publications

    1.2K citations

  4. Star Center

    Jackson, United States

    2 h-index

    18 publications

    630 citations

  5. Bielefeld University

    Bielefeld, Germany

    2 h-index

    6 publications

    237 citations

  6. University of Helsinki

    Helsinki, Finland

    2 h-index

    9 publications

    399 citations

  7. Ruhr University Bochum

    Bochum, Germany

    2 h-index

    2 publications

    79 citations

  8. University of Arizona

    Tucson, United States

    2 h-index

    2 publications

    229 citations

1–8 of 163

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 163 citations

    5

    h-index

  2. Bioinformatics

    4 publications · 288 citations

    4

    h-index

  3. Briefings in Bioinformatics

    4 publications · 187 citations

    4

    h-index

  4. BMC Bioinformatics

    3 publications · 135 citations

    3

    h-index

  5. PLoS ONE

    2 publications · 54 citations

    2

    h-index

1–5