Concepedia

Functional Variant Characterization

Functional Variant Characterization is a systematic approach in pharmacogenomics that identifies and defines genetic variants based on their biological impact on drug metabolism, specifically distinguishing variants that alter enzyme function, expression, or regulation from those with no discernible effect.

147

Publications

11.6K

Citations

1.6K

Authors

650

Institutions

Publications per year

2017–2026

59

Parents

Publications

147

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer et al. · Nature · 2013 · 2.2K citations · Full text

, , +12

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

Nunzio Bottini, Lucia Musumeci, Andrés Alonso et al. · Nature Genetics · 2004 · 1.4K citations

, , +13

Association of human aging with a functional variant of klotho

Dan E. Arking, Alice Krebsová, Milan Maçek et al. · Proceedings of the National Academy of Sciences · 2002 · 488 citations · Full text

, , +17

A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis

Chiea Chuen Khor, S. Jonathan Chapman, Fredrik Vannberg et al. · Nature Genetics · 2007 · 432 citations · Full text

, , +13

A functional variant of SUMO4, a new IκBα modifier, is associated with type 1 diabetes

Dehuang Guo, Manyu Li, Yan Zhang et al. · Nature Genetics · 2004 · 422 citations

, , +12

1–5 of 147

Authors

1.6K

  1. MB
    Mafalda Bourbon

    University of Lisbon, Portugal

    3 publications · 54 citations

    3

    h-index

  2. RG
    Rafael Graça

    National Institute of Health Dr. Ricardo Jorge, Portugal

    3 publications · 54 citations

    3

    h-index

  3. MV
    Marc Vidal

    Dana-Farber Cancer Institute, United States

    3 publications · 286 citations

    3

    h-index

  4. AC
    Ana Catarina Alves

    University of Lisbon, Portugal

    3 publications · 54 citations

    3

    h-index

  5. JC
    Jonathan Caton

    Google DeepMind (United Kingdom), United Kingdom

    2 publications · 86 citations

    2

    h-index

1–5 of 1.6K

Institutions

650

  1. Harvard University

    Cambridge, United States

    8 h-index

    28 publications

    1.6K citations

  2. Inserm

    Paris, France

    6 h-index

    49 publications

    2.7K citations

  3. Massachusetts General Hospital

    Boston, United States

    6 h-index

    18 publications

    5.2K citations

  4. National Institutes of Health

    Bethesda, United States

    5 h-index

    25 publications

    1.3K citations

  5. Broad Institute

    Cambridge, United States

    5 h-index

    28 publications

    5.8K citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    4 h-index

    10 publications

    667 citations

  7. The University of Tokyo

    Tokyo, Japan

    4 h-index

    11 publications

    2K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    4 h-index

    22 publications

    971 citations

1–8 of 650

Venues

  1. Human Molecular Genetics

    7 publications · 500 citations

    7

    h-index

  2. PLoS ONE

    6 publications · 138 citations

    6

    h-index

  3. Nature Genetics

    5 publications · 3K citations

    5

    h-index

  4. Pharmacogenetics and Genomics

    4 publications · 181 citations

    4

    h-index

  5. Human Mutation

    3 publications · 96 citations

    3

    h-index

1–5