Concepedia

Pathogenic Variant Classification

Pathogenic Variant Classification is a computational and analytical framework in medical genetics that categorizes germline genetic variants based on their established or predicted biological and clinical impact, distinguishing it from other genomic assessment methods by its specific focus on determining the pathogenicity of inherited variants in relation to cancer susceptibility.

448

Publications

34.9K

Citations

5K

Authors

1.5K

Institutions

Publications per year

2017–2026

331

Parents

Publications

448

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

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Daniel Quang, Yifei Chen, Xiaohui Xie · Bioinformatics · 2014 · 1.1K citations · Full text

, , +16

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

1–5 of 448

Authors

5K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    30 publications · 2.9K citations

    23

    h-index

  2. SV
    Sean V. Tavtigian

    University of Utah, United States

    26 publications · 4.1K citations

    23

    h-index

  3. FJ
    Fergus J. Couch

    Mayo Clinic, United States

    18 publications · 1.2K citations

    18

    h-index

  4. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    18 publications · 2K citations

    16

    h-index

  5. DE
    David E. Goldgar

    University of Utah, United States

    18 publications · 1.4K citations

    16

    h-index

1–5 of 5K

Institutions

1.5K

  1. University of Utah

    Salt Lake City, United States

    28 h-index

    90 publications

    8.3K citations

  2. Inserm

    Paris, France

    25 h-index

    152 publications

    9.2K citations

  3. Mayo Clinic

    Rochester, United States

    24 h-index

    47 publications

    3.5K citations

  4. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    24 h-index

    113 publications

    8.3K citations

  5. Huntsman Cancer Institute

    Salt Lake City, United States

    21 h-index

    48 publications

    4.7K citations

  6. The University of Melbourne

    Melbourne, Australia

    20 h-index

    76 publications

    3.6K citations

  7. Harvard University

    Cambridge, United States

    19 h-index

    84 publications

    3.7K citations

  8. Ambry Genetics (United States)

    Aliso Viejo, United States

    19 h-index

    97 publications

    7.4K citations

1–8 of 1.5K

Venues

  1. Human Mutation

    59 publications · 6.7K citations

    41

    h-index

  2. Genetics in Medicine

    GIM · 31 publications · 1.9K citations

    27

    h-index

  3. Scientific Reports

    13 publications · 575 citations

    13

    h-index

  4. PLoS ONE

    11 publications · 618 citations

    11

    h-index

  5. Journal of Medical Genetics

    JMG · 12 publications · 1K citations

    11

    h-index

1–5