Concepedia

Sequence Variant Curation

Sequence Variant Curation is the systematic process of identifying, evaluating, and annotating genetic sequence variants according to standardized evidence-based criteria to determine their functional and clinical significance in pharmacogenomic contexts.

208

Publications

67.9K

Citations

2.5K

Authors

813

Institutions

Publications per year

2017–2026

80

Parents

Publications

208

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

, , +17

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text

, , +17

The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses

Gil Stelzer, Naomi Rosen, Inbar Plaschkes et al. · Current Protocols in Bioinformatics · 2016 · 5.5K citations

, , +17

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

, , +16

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun, Daniel Harris, Michael D. Kessler et al. · Nature · 2021 · 2.3K citations · Full text

, , +17

1–5 of 208

Authors

2.5K

  1. AA
    Ahmad Abou Tayoun

    Al Jalila Foundation, United Arab Emirates

    7 publications · 1.4K citations

    7

    h-index

  2. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    7 publications · 2.4K citations

    7

    h-index

  3. RD
    Raymond Dalgleish

    University of Leicester, United Kingdom

    6 publications · 2.2K citations

    6

    h-index

  4. HL
    Heidi L. Rehm

    Harvard University, United States

    6 publications · 33K citations

    6

    h-index

  5. PE
    Peter E.M. Taschner

    Leiden University Medical Center, Netherlands

    6 publications · 2.3K citations

    6

    h-index

1–5 of 2.5K

Institutions

813

  1. National Institutes of Health

    Bethesda, United States

    13 h-index

    50 publications

    58K citations

  2. Harvard University

    Cambridge, United States

    13 h-index

    77 publications

    79.2K citations

  3. Baylor College of Medicine

    Houston, United States

    13 h-index

    78 publications

    10.2K citations

  4. Broad Institute

    Cambridge, United States

    12 h-index

    148 publications

    55.8K citations

  5. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    12 h-index

    32 publications

    17.9K citations

  6. Emory University

    Atlanta, United States

    11 h-index

    32 publications

    49K citations

  7. Brigham and Women's Hospital

    Boston, United States

    11 h-index

    57 publications

    91K citations

  8. Stanford University

    Stanford, United States

    11 h-index

    30 publications

    22.2K citations

1–8 of 813

Venues

  1. Human Mutation

    21 publications · 3.8K citations

    18

    h-index

  2. Genetics in Medicine

    GIM · 9 publications · 32.6K citations

    9

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 7 publications · 921 citations

    7

    h-index

  4. Scientific Reports

    6 publications · 169 citations

    6

    h-index

  5. Bioinformatics

    5 publications · 162 citations

    5

    h-index

1–5