Concepedia

Somatic Mutation Calling

Somatic Mutation Calling is a computational method in genomics that identifies acquired genetic alterations in a subset of cells by distinguishing tumor-specific variants from germline variants through comparative analysis of sequencing data from matched tumor and normal tissues.

174

Publications

26.4K

Citations

3.2K

Authors

782

Institutions

Publications per year

2017–2026

90

Parents

Publications

174

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li · Bioinformatics · 2011 · 7.4K citations · Full text

, , +16

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

Xiaoyu Chen, Ole Schulz-Trieglaff, Richard J. Shaw et al. · Bioinformatics · 2015 · 2.4K citations · Full text

, , +17

Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs

Christopher T. Saunders, Wendy S.W. Wong, Sajani Swamy et al. · Bioinformatics · 2012 · 1.8K citations · Full text

, , +17

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

Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines

Kyle Ellrott, Matthew H. Bailey, Gordon Saksena et al. · Cell Systems · 2018 · 942 citations · Full text

, , +17

1–5 of 174

Authors

3.2K

  1. PJ
    Peter J. Campbell

    Wellcome Sanger Institute, United Kingdom

    6 publications · 1.5K citations

    6

    h-index

  2. PC
    Paul C. Boutros

    University of Toronto, Canada

    5 publications · 814 citations

    5

    h-index

  3. JM
    Joshua M. Stuart

    University of California, Santa Cruz, United States

    5 publications · 1.5K citations

    5

    h-index

  4. PT
    Patrick Tarpey

    Wellcome Sanger Institute, United Kingdom

    5 publications · 659 citations

    5

    h-index

  5. CT
    Christopher T. Saunders

    Illumina (United States), United States

    5 publications · 6.1K citations

    5

    h-index

1–5 of 3.2K

Institutions

782

  1. The University of Texas MD Anderson Cancer Center

    Houston, United States

    12 h-index

    137 publications

    14.9K citations

  2. Harvard University

    Cambridge, United States

    12 h-index

    140 publications

    25.4K citations

  3. Wellcome Sanger Institute

    Cambridge, United Kingdom

    11 h-index

    189 publications

    19.5K citations

  4. Stanford University

    Stanford, United States

    10 h-index

    45 publications

    3K citations

  5. Broad Institute

    Cambridge, United States

    10 h-index

    178 publications

    28.2K citations

  6. Washington University in St. Louis

    St Louis, United States

    9 h-index

    75 publications

    5.8K citations

  7. University of California San Diego

    San Diego, United States

    8 h-index

    54 publications

    4.8K citations

  8. Universitat Pompeu Fabra

    Barcelona, Spain

    8 h-index

    85 publications

    7.4K citations

1–8 of 782

Venues

  1. Bioinformatics

    17 publications · 13K citations

    16

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 12 publications · 247 citations

    10

    h-index

  3. Genome biology

    8 publications · 547 citations

    8

    h-index

  4. Scientific Reports

    8 publications · 403 citations

    8

    h-index

  5. PLoS ONE

    7 publications · 322 citations

    7

    h-index

1–5