Concepedia

Pathologic Variant Interpretation

Pathologic Variant Interpretation is a systematic analytical framework used in clinical genomics to classify genetic variants according to their disease-causing potential by integrating functional, population, and computational evidence to distinguish pathogenic mutations from benign polymorphisms.

164

Publications

42.8K

Citations

1.6K

Authors

730

Institutions

Publications per year

2017–2026

95

Parents

Publications

164

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

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li, Kai Wang · The American Journal of Human Genetics · 2017 · 1.1K citations · Full text

, , +16

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

, , +15

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S. Ware et al. · Genetics in Medicine · 2016 · 758 citations · Full text

, , +16

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 621 citations · Full text

, , +13

1–5 of 164

Authors

1.6K

  1. AA
    Ahmad Abou Tayoun

    Al Jalila Foundation, United Arab Emirates

    5 publications · 1.3K citations

    5

    h-index

  2. HL
    Heidi L. Rehm

    Harvard University, United States

    5 publications · 33K citations

    5

    h-index

  3. SM
    Steven M. Harrison

    Broad Institute, United States

    5 publications · 1K citations

    5

    h-index

  4. SE
    Sharon E. Plon

    Baylor College of Medicine, United States

    4 publications · 454 citations

    4

    h-index

  5. MH
    Madhuri Hegde

    Emory University, United States

    4 publications · 32.4K citations

    4

    h-index

1–5 of 1.6K

Institutions

730

  1. Baylor College of Medicine

    Houston, United States

    10 h-index

    50 publications

    3.2K citations

  2. Harvard University

    Cambridge, United States

    9 h-index

    26 publications

    38.9K citations

  3. Mass General Brigham

    Boston, United States

    8 h-index

    29 publications

    7.1K citations

  4. Broad Institute

    Cambridge, United States

    8 h-index

    13 publications

    4K citations

  5. University of Utah

    Salt Lake City, United States

    8 h-index

    19 publications

    65.6K citations

  6. Massachusetts General Hospital

    Boston, United States

    8 h-index

    14 publications

    4.1K citations

  7. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    7 h-index

    21 publications

    3.8K citations

  8. Johns Hopkins University

    Baltimore, United States

    6 h-index

    15 publications

    1.2K citations

1–8 of 730

Venues

  1. Human Mutation

    17 publications · 1.5K citations

    16

    h-index

  2. Genetics in Medicine

    GIM · 13 publications · 34.3K citations

    12

    h-index

  3. Human Genetics

    9 publications · 351 citations

    9

    h-index

  4. PubMed

    Repository · 7 publications · 267 citations

    7

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 4 publications · 234 citations

    4

    h-index

1–5