Concepedia

Consensus Variant Classification

Consensus Variant Classification is a methodological framework in genomics that integrates multiple variant interpretation algorithms or expert opinions to derive a unified, evidence-based classification of germline variants, thereby reducing discordance and enhancing reliability in clinical and research settings.

28

Publications

1.8K

Citations

331

Authors

234

Institutions

Publications per year

2017–2026

22

Parents

Publications

28

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

Bruce D. Gelb, Hélène Cavé, Mitchell W. Dillon et al. · Genetics in Medicine · 2018 · 174 citations · Full text

, , +14

Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran et al. · Human Mutation · 2018 · 171 citations · Full text

, , +17

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle E van Gijn, Isabella Ceccherini, Yael Shinar et al. · Journal of Medical Genetics · 2018 · 167 citations · Full text

, , +16

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý et al. · Genetics in Medicine · 2021 · 164 citations · Full text

, , +14

Consensus molecular subtypes classification of colorectal cancer as a predictive factor for chemotherapeutic efficacy against metastatic colorectal cancer

Akira Okita, Shin Takahashi, Kota Ouchi et al. · Oncotarget · 2018 · 155 citations · Full text

, , +15

1–5 of 28

Authors

331

  1. AT
    Ayalew Tefferi

    Mayo Clinic, United States

    1 publications · 46 citations

    3

    h-index

  2. IB
    Ingmar Blümcke

    Universitätsklinikum Erlangen, Germany

    3 publications · 155 citations

    3

    h-index

  3. MV
    Mithun Vinod Shah

    Mayo Clinic in Arizona, United States

    1 publications · 46 citations

    3

    h-index

  4. DH
    Devendra Hiwase

    Royal Adelaide Hospital, Australia

    1 publications · 46 citations

    3

    h-index

  5. MM
    Mrinal M. Patnaik

    Mayo Clinic in Arizona, United States

    1 publications · 46 citations

    2

    h-index

1–5 of 331

Institutions

234

  1. Mayo Clinic

    Rochester, United States

    3 h-index

    1 publications

    46 citations

  2. Université Paris Cité

    Paris, France

    3 h-index

    6 publications

    339 citations

  3. Mayo Clinic in Florida

    Jacksonville, United States

    3 h-index

    1 publications

    46 citations

  4. Inserm

    Paris, France

    3 h-index

    8 publications

    666 citations

  5. Mayo Clinic in Arizona

    Scottsdale, United States

    3 h-index

    11 publications

    506 citations

  6. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    3 h-index

    3 publications

    351 citations

  7. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    3 h-index

    5 publications

    439 citations

  8. Ambry Genetics (United States)

    Aliso Viejo, United States

    3 h-index

    6 publications

    907 citations

1–8 of 234

Venues

  1. Human Mutation

    3 publications · 284 citations

    3

    h-index

  2. Genetics in Medicine

    GIM · 3 publications · 460 citations

    3

    h-index

  3. Journal of Medical Genetics

    JMG · 3 publications · 296 citations

    3

    h-index

  4. Epilepsia

    2 publications · 95 citations

    2

    h-index

  5. Blood Cancer Journal

    1 publications · 46 citations

    1

    h-index

1–5