Concepedia

Germline Variant Classification

Germline Variant Classification is a computational and bioinformatic method that distinguishes pathogenic from benign germline genetic variants by integrating population genetics, evolutionary conservation, and functional impact predictions within the broader framework of clinical variant interpretation.

209

Publications

16.9K

Citations

2.9K

Authors

959

Institutions

Publications per year

2017–2026

133

Parents

Publications

209

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

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

The human gene mutation database

D.N. Cooper · Nucleic Acids Research · 1998 · 612 citations · Full text

, , +15

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Jacob J. Michaelson, Yujian Shi, Madhusudan Gujral et al. · Cell · 2012 · 586 citations · Full text

, , +16

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

, , +16

1–5 of 209

Authors

2.9K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    11 publications · 1.5K citations

    11

    h-index

  2. SE
    Sharon E. Plon

    Baylor College of Medicine, United States

    9 publications · 1.7K citations

    9

    h-index

  3. KO
    Kenneth Offit

    Memorial Sloan Kettering Cancer Center, United States

    8 publications · 689 citations

    8

    h-index

  4. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    8 publications · 491 citations

    8

    h-index

  5. LZ
    Liying Zhang

    Memorial Sloan Kettering Cancer Center, United States

    8 publications · 1K citations

    8

    h-index

1–5 of 2.9K

Institutions

959

  1. Inserm

    Paris, France

    19 h-index

    116 publications

    11.6K citations

  2. Memorial Sloan Kettering Cancer Center

    New York, United States

    14 h-index

    202 publications

    17.3K citations

  3. Assistance Publique – Hôpitaux de Paris

    Paris, France

    14 h-index

    80 publications

    8.6K citations

  4. National Cancer Institute

    Bethesda, United States

    14 h-index

    58 publications

    4.8K citations

  5. The University of Melbourne

    Melbourne, Australia

    14 h-index

    41 publications

    1.5K citations

  6. Huntsman Cancer Institute

    Salt Lake City, United States

    13 h-index

    39 publications

    1.5K citations

  7. University of Utah

    Salt Lake City, United States

    13 h-index

    34 publications

    1.6K citations

  8. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    12 h-index

    30 publications

    2.1K citations

1–8 of 959

Venues

  1. Human Mutation

    19 publications · 2.1K citations

    15

    h-index

  2. Genetics in Medicine

    GIM · 13 publications · 699 citations

    13

    h-index

  3. Blood

    10 publications · 1.1K citations

    10

    h-index

  4. The American Journal of Human Genetics

    AJHG · 8 publications · 1.6K citations

    8

    h-index

  5. Human Genetics

    7 publications · 226 citations

    7

    h-index

1–5