Concepedia

Germline Variant Calling

Germline Variant Calling is a computational method within variant detection that identifies inherited genetic variations present in all cells of an organism, specifically distinguishing those variants originating from parental gametes rather than somatic mutations.

47

Publications

4.5K

Citations

383

Authors

195

Institutions

Publications per year

2017–2026

36

Parents

Publications

47

Strelka2: fast and accurate calling of germline and somatic variants

Sangtae Kim, Konrad Scheffler, Aaron L. Halpern et al. · Nature Methods · 2018 · 1.8K citations

, , +11

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

, , +16

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

Daniel C. Koboldt, David E. Larson, Richard K. Wilson · Current Protocols in Bioinformatics · 2013 · 225 citations

, , +17

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Wouter De Coster, Peter De Rijk, Arne De Roeck et al. · Genome Research · 2019 · 180 citations · Full text

, , +17

Exploring the limit of using a deep neural network on pileup data for germline variant calling

Ruibang Luo, Chak-Lim Wong, Yat-Sing Wong et al. · Nature Machine Intelligence · 2020 · 156 citations

, , +13

1–5 of 47

Authors

383

  1. PK
    Peter Krusche

    Illumina (United States), United States

    3 publications · 2.3K citations

    3

    h-index

  2. RT
    Rebecca Truty

    Invitae (United States), United States

    2 publications · 561 citations

    2

    h-index

  3. MF
    Mark Fleharty

    Broad Institute, United States

    2 publications · 561 citations

    2

    h-index

  4. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    2 publications · 561 citations

    2

    h-index

  5. LS
    Lele Sun

    Soochow University, China

    2 publications · 43 citations

    2

    h-index

1–5 of 383

Institutions

195

  1. Stanford University

    Stanford, United States

    4 h-index

    11 publications

    2.2K citations

  2. Cornell University

    Ithaca, United States

    3 h-index

    7 publications

    1.3K citations

  3. Broad Institute

    Cambridge, United States

    3 h-index

    13 publications

    1.5K citations

  4. Illumina (United Kingdom)

    Cambridge, United Kingdom

    3 h-index

    11 publications

    8K citations

  5. Illumina (United States)

    San Diego, United States

    3 h-index

    10 publications

    13.5K citations

  6. University of Oxford

    Oxford, United Kingdom

    3 h-index

    6 publications

    342 citations

  7. Invitae (United States)

    San Francisco, United States

    3 h-index

    4 publications

    1.1K citations

  8. DNV (Norway)

    Høvik, Norway

    2 h-index

    2 publications

    132 citations

1–8 of 195

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 165 citations

    8

    h-index

  2. Genetics in Medicine

    GIM · 3 publications · 118 citations

    3

    h-index

  3. BMC Bioinformatics

    3 publications · 86 citations

    3

    h-index

  4. Bioinformatics

    2 publications · 75 citations

    2

    h-index

  5. Nature Biotechnology

    2 publications · 623 citations

    2

    h-index

1–5