Concepedia

Likely Pathogenic Variant Interpretation

Likely Pathogenic Variant Interpretation is a variant classification framework in clinical genomics that categorizes germline genetic variants as having strong but not definitive evidence supporting their disease-causing role, distinguishing it from both pathogenic and uncertain significance classifications through the integration of convergent lines of indirect evidence.

657

Publications

30.2K

Citations

8.6K

Authors

2.2K

Institutions

Publications per year

2017–2026

584

Parents

Publications

657

ClinGen — The Clinical Genome Resource

Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks et al. · New England Journal of Medicine · 2015 · 1.5K citations · Full text

, , +17

Pathogenic Germline Variants in 10,389 Adult Cancers

Kuan‐lin Huang, R. Jay Mashl, Yige Wu et al. · Cell · 2018 · 888 citations · Full text

, , +17

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 369 citations · Full text

, , +17

Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

Piper Nicolosi, Elisa M. Ledet, Shan Yang et al. · JAMA Oncology · 2019 · 358 citations · Full text

, , +17

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Héla Azaiez, Kevin T. Booth, Sean S. Ephraim et al. · The American Journal of Human Genetics · 2018 · 320 citations · Full text

, , +17

1–5 of 657

Authors

8.6K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    8 publications · 584 citations

    9

    h-index

  2. HL
    Heidi L. Rehm

    Harvard University, United States

    8 publications · 2.1K citations

    8

    h-index

  3. WK
    Wendy K. Chung

    Columbia University, United States

    8 publications · 510 citations

    8

    h-index

  4. ED
    Edward D. Esplin

    Invitae (United States), United States

    8 publications · 582 citations

    8

    h-index

  5. RL
    Robert L. Nussbaum

    Invitae (United States), United States

    7 publications · 2.1K citations

    7

    h-index

1–5 of 8.6K

Institutions

2.2K

  1. Harvard University

    Cambridge, United States

    24 h-index

    143 publications

    6.7K citations

  2. Inserm

    Paris, France

    23 h-index

    219 publications

    8.7K citations

  3. University College London

    London, United Kingdom

    22 h-index

    122 publications

    6.6K citations

  4. The University of Melbourne

    Melbourne, Australia

    21 h-index

    88 publications

    5.3K citations

  5. Broad Institute

    Cambridge, United States

    21 h-index

    104 publications

    11.3K citations

  6. Mayo Clinic

    Rochester, United States

    19 h-index

    55 publications

    9.8K citations

  7. University of Utah

    Salt Lake City, United States

    17 h-index

    42 publications

    3K citations

  8. University of Washington

    Seattle, United States

    17 h-index

    59 publications

    3.3K citations

1–8 of 2.2K

Venues

  1. Scientific Reports

    26 publications · 842 citations

    19

    h-index

  2. Journal of Medical Genetics

    JMG · 22 publications · 1.1K citations

    18

    h-index

  3. Clinical Genetics

    18 publications · 812 citations

    17

    h-index

  4. Genetics in Medicine

    GIM · 16 publications · 1.2K citations

    16

    h-index

  5. American Journal of Medical Genetics Part A

    19 publications · 484 citations

    16

    h-index

1–5