Concepedia

Germline Variant Interpretation

Germline Variant Interpretation is a formal analytic process within clinical genomics that identifies and evaluates heritable DNA sequence alterations present in all cells of an individual’s body, distinguishing them from somatic variants by their potential to inform inherited disease risk, familial transmission patterns, and personalized medical management.

1.4K

Publications

128.7K

Citations

13.8K

Authors

2.8K

Institutions

Publications per year

2017–2026

724

Parents

Children

Publications

1.4K

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

, , +17

Glioma Groups Based on 1p/19q,<i>IDH</i>, and<i>TERT</i>Promoter Mutations in Tumors

Jeanette E. Eckel‐Passow, Daniel H. Lachance, Annette M Molinaro et al. · New England Journal of Medicine · 2015 · 2K 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

Variant Review with the Integrative Genomics Viewer

James Robinson, Helga Thorvaldsdóttir, Aaron M. Wenger et al. · Cancer Research · 2017 · 1.3K citations · Full text

, , +17

1–5 of 1.4K

Authors

13.8K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    34 publications · 3.2K citations

    24

    h-index

  2. FJ
    Fergus J. Couch

    Mayo Clinic, United States

    21 publications · 3K citations

    21

    h-index

  3. SE
    Sharon E. Plon

    Baylor College of Medicine, United States

    22 publications · 3.9K citations

    20

    h-index

  4. WD
    William D. Foulkes

    McGill University, Canada

    19 publications · 2K citations

    19

    h-index

  5. SV
    Sean V. Tavtigian

    University of Utah, United States

    20 publications · 3.9K citations

    18

    h-index

1–5 of 13.8K

Institutions

2.8K

  1. Inserm

    Paris, France

    37 h-index

    356 publications

    34.1K citations

  2. National Institutes of Health

    Bethesda, United States

    36 h-index

    277 publications

    86.2K citations

  3. Harvard University

    Cambridge, United States

    36 h-index

    201 publications

    59.3K citations

  4. Memorial Sloan Kettering Cancer Center

    New York, United States

    35 h-index

    401 publications

    49.1K citations

  5. University of Utah

    Salt Lake City, United States

    32 h-index

    153 publications

    76.4K citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    32 h-index

    252 publications

    20.2K citations

  7. Mayo Clinic

    Rochester, United States

    31 h-index

    130 publications

    15K citations

  8. National Cancer Institute

    Bethesda, United States

    31 h-index

    191 publications

    16K citations

1–8 of 2.8K

Venues

  1. Human Mutation

    90 publications · 7.8K citations

    42

    h-index

  2. Genetics in Medicine

    GIM · 51 publications · 35.3K citations

    32

    h-index

  3. The American Journal of Human Genetics

    AJHG · 33 publications · 6.7K citations

    31

    h-index

  4. European Journal of Human Genetics

    EJHG · 40 publications · 2.2K citations

    26

    h-index

  5. Breast Cancer Research and Treatment

    44 publications · 1.8K citations

    25

    h-index

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