Concepedia

Variant Interpretation

Variant Interpretation is a systematic analytical process in genomic medicine that classifies genetic variants by their pathogenicity and functional impact to determine their clinical significance within hereditary disease contexts.

8.2K

Publications

647.2K

Citations

66K

Authors

7.9K

Institutions

Publications per year

2017–2026

4K

Variants

Variant Interpretation In Cardiovascular Genetics

Parents

Children

Publications

8.2K

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

, , +17

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

, , +17

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature · 2018 · 9.7K citations · Full text

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1–5 of 8.2K

Authors

66K

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    81 publications · 47.1K citations

    50

    h-index

  2. DG
    Daniel G. MacArthur

    Broad Institute, United States

    56 publications · 44K citations

    40

    h-index

  3. FJ
    Fergus J. Couch

    Mayo Clinic, United States

    43 publications · 4.7K citations

    36

    h-index

  4. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    58 publications · 20.7K citations

    36

    h-index

  5. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    43 publications · 8.6K citations

    35

    h-index

1–5 of 66K

Institutions

7.9K

  1. Harvard University

    Cambridge, United States

    109 h-index

    1.8K publications

    551.1K citations

  2. Inserm

    Paris, France

    96 h-index

    2.8K publications

    194.5K citations

  3. Broad Institute

    Cambridge, United States

    94 h-index

    1.9K publications

    1.7M citations

  4. Massachusetts General Hospital

    Boston, United States

    92 h-index

    1.3K publications

    1M citations

  5. National Institutes of Health

    Bethesda, United States

    82 h-index

    1K publications

    444.1K citations

  6. University of Washington

    Seattle, United States

    81 h-index

    1.2K publications

    278.8K citations

  7. Baylor College of Medicine

    Houston, United States

    80 h-index

    1.4K publications

    238.9K citations

  8. Stanford University

    Stanford, United States

    78 h-index

    764 publications

    149K citations

1–8 of 7.9K

Venues

  1. Human Mutation

    496 publications · 38.6K citations

    90

    h-index

  2. Genetics in Medicine

    GIM · 253 publications · 60.9K citations

    80

    h-index

  3. The American Journal of Human Genetics

    AJHG · 152 publications · 20.2K citations

    80

    h-index

  4. Nucleic Acids Research

    153 publications · 48.8K citations

    65

    h-index

  5. Blood

    100 publications · 11.4K citations

    58

    h-index

1–5