Concepedia

Evidence-based Variant Curation

Evidence-Based Variant Curation is a systematic framework for evaluating and classifying somatic genetic variants by integrating curated, peer-reviewed evidence from clinical, functional, and population-based studies to support accurate and reproducible interpretation in precision oncology.

11

Publications

789

Citations

188

Authors

110

Institutions

Publications per year

2017–2026

11

Parents

Publications

11

ClinVar at five years: Delivering on the promise

Melissa Landrum, B Kattman · Human Mutation · 2018 · 219 citations · Full text

, , +17

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan et al. · Blood Advances · 2019 · 157 citations · Full text

, , +14

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

Lauren Chunn, Diane C. Nefcy, Rachel W. Scouten et al. · Frontiers in Genetics · 2020 · 98 citations · Full text

, , +17

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson et al. · The American Journal of Human Genetics · 2024 · 90 citations · Full text

, , +13

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2023 · 69 citations · Full text

, , +8

1–5 of 11

Authors

188

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    3 publications · 176 citations

    3

    h-index

  2. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    3 publications · 228 citations

    2

    h-index

  3. ML
    Minjie Luo

    Children's Hospital of Philadelphia, United States

    3 publications · 295 citations

    2

    h-index

  4. ME
    Marcy E. Richardson

    Ambry Genetics (United States), United States

    2 publications · 159 citations

    2

    h-index

  5. CF
    Cristina Fortuño

    QIMR Berghofer Medical Research Institute, Australia

    2 publications · 107 citations

    2

    h-index

1–5 of 188

Institutions

110

  1. Invitae (United States)

    San Francisco, United States

    3 h-index

    5 publications

    454 citations

  2. University of Pennsylvania

    Philadelphia, United States

    3 h-index

    8 publications

    786 citations

  3. Inserm

    Paris, France

    2 h-index

    4 publications

    494 citations

  4. Ambry Genetics (United States)

    Aliso Viejo, United States

    2 h-index

    10 publications

    774 citations

  5. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    2 h-index

    9 publications

    591 citations

  6. Children's Hospital of Philadelphia

    Philadelphia, United States

    2 h-index

    7 publications

    571 citations

  7. Broad Institute

    Cambridge, United States

    2 h-index

    7 publications

    315 citations

  8. Emory University

    Atlanta, United States

    2 h-index

    3 publications

    295 citations

1–8 of 110

Venues

  1. Scientific Reports

    2 publications · 32 citations

    2

    h-index

  2. Bioinformatics

    1 publications · 29 citations

    1

    h-index

  3. Journal of Medical Genetics

    JMG · 1 publications · 17 citations

    1

    h-index

  4. Genetics in Medicine

    GIM · 1 publications · 69 citations

    1

    h-index

  5. JAMA

    1 publications · 13 citations

    1

    h-index

1–5