Concepedia

Variant Pathogenicity Interpretation

Variant Pathogenicity Interpretation is a systematic framework in medical genetics that classifies the likelihood of a genetic variant contributing to disease by integrating genomic, functional, and population-level evidence to distinguish pathogenic from benign variants.

294

Publications

34.7K

Citations

3.4K

Authors

1.3K

Institutions

Publications per year

2017–2026

226

Parents

Publications

294

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

, , +17

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

, , +14

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

1–5 of 294

Authors

3.4K

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    9 publications · 3K citations

    9

    h-index

  2. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    7 publications · 3K citations

    7

    h-index

  3. AO
    Anne O’Donnell‐Luria

    Broad Institute, United States

    7 publications · 11.3K citations

    7

    h-index

  4. DG
    Daniel G. MacArthur

    Broad Institute, United States

    6 publications · 12.6K citations

    6

    h-index

  5. JS
    James S. Ware

    Imperial College London, United Kingdom

    6 publications · 11.3K citations

    6

    h-index

1–5 of 3.4K

Institutions

1.3K

  1. Massachusetts General Hospital

    Boston, United States

    23 h-index

    118 publications

    325.3K citations

  2. Broad Institute

    Cambridge, United States

    19 h-index

    154 publications

    556.6K citations

  3. Harvard University

    Cambridge, United States

    19 h-index

    95 publications

    116K citations

  4. University of Washington

    Seattle, United States

    14 h-index

    33 publications

    41.3K citations

  5. Inserm

    Paris, France

    14 h-index

    76 publications

    5K citations

  6. University College London

    London, United Kingdom

    13 h-index

    107 publications

    5.2K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    13 h-index

    66 publications

    2.9K citations

  8. Radboud University Medical Center

    Nijmegen, The Netherlands

    13 h-index

    66 publications

    2.9K citations

1–8 of 1.3K

Venues

  1. Human Mutation

    27 publications · 2.9K citations

    22

    h-index

  2. Genetics in Medicine

    GIM · 13 publications · 1.5K citations

    12

    h-index

  3. The American Journal of Human Genetics

    AJHG · 8 publications · 1.4K citations

    8

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 324 citations

    8

    h-index

  5. Molecular Genetics & Genomic Medicine

    8 publications · 176 citations

    8

    h-index

1–5