Concepedia

Variant Pathogenicity Classification

Variant Pathogenicity Classification is a systematic framework in genetic risk assessment that categorizes germline variants based on their likelihood of causing disease, distinguishing it from other genomic analyses by its focus on interpreting clinical significance through integrated evidence from population frequency, functional impact, and inheritance patterns.

264

Publications

26.1K

Citations

3.3K

Authors

1.1K

Institutions

Publications per year

2017–2026

206

Parents

Publications

264

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

Accurate proteome-wide missense variant effect prediction with AlphaMissense

Jun Cheng, Guido Novati, Joshua Pan et al. · Science · 2023 · 2K citations

, , +15

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Sharon E. Plon, Douglas F. Easton, William D. Foulkes et al. · Human Mutation · 2008 · 913 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 264

Authors

3.3K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    20 publications · 2.4K citations

    17

    h-index

  2. SV
    Sean V. Tavtigian

    University of Utah, United States

    16 publications · 2.7K citations

    13

    h-index

  3. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    12 publications · 1.5K citations

    11

    h-index

  4. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    10 publications · 2.1K citations

    10

    h-index

  5. HL
    Heidi L. Rehm

    Harvard University, United States

    10 publications · 1.9K citations

    10

    h-index

1–5 of 3.3K

Institutions

1.1K

  1. University of Utah

    Salt Lake City, United States

    23 h-index

    60 publications

    5.2K citations

  2. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    19 h-index

    62 publications

    5K citations

  3. Broad Institute

    Cambridge, United States

    18 h-index

    57 publications

    7.6K citations

  4. Massachusetts General Hospital

    Boston, United States

    18 h-index

    33 publications

    7.2K citations

  5. Inserm

    Paris, France

    18 h-index

    85 publications

    5.1K citations

  6. Harvard University

    Cambridge, United States

    17 h-index

    69 publications

    7.2K citations

  7. National Institutes of Health

    Bethesda, United States

    16 h-index

    38 publications

    3.8K citations

  8. Huntsman Cancer Institute

    Salt Lake City, United States

    16 h-index

    34 publications

    3.4K citations

1–8 of 1.1K

Venues

  1. Human Mutation

    39 publications · 5K citations

    31

    h-index

  2. Genetics in Medicine

    GIM · 17 publications · 1.4K citations

    15

    h-index

  3. Scientific Reports

    11 publications · 551 citations

    11

    h-index

  4. Journal of Medical Genetics

    JMG · 10 publications · 658 citations

    10

    h-index

  5. The American Journal of Human Genetics

    AJHG · 9 publications · 1.9K citations

    9

    h-index

1–5