Concepedia

Variant Annotation

Variant Annotation is a computational process in genomics that belongs to the class of variant analysis procedures and is distinguished by the systematic assignment of biological, functional, and clinical metadata to genetic variants, enabling their interpretation in the context of phenotype, disease, and therapeutic relevance.

296

Publications

81.6K

Citations

2.7K

Authors

799

Institutions

Publications per year

2017–2026

180

Parents

Publications

296

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

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 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: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

, , +17

1–5 of 296

Authors

2.7K

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    10 publications · 670 citations

    10

    h-index

  2. FC
    Fiona Cunningham

    European Bioinformatics Institute, United Kingdom

    10 publications · 10.6K citations

    10

    h-index

  3. JS
    James S. Ware

    Imperial College London, United Kingdom

    11 publications · 22.8K citations

    9

    h-index

  4. SH
    Sarah Hunt

    Wellcome Sanger Institute, United Kingdom

    7 publications · 9.8K citations

    7

    h-index

  5. ML
    Melissa Landrum

    National Center for Biotechnology Information, United States

    7 publications · 12.3K citations

    7

    h-index

1–5 of 2.7K

Institutions

799

  1. Harvard University

    Cambridge, United States

    25 h-index

    187 publications

    181.6K citations

  2. Broad Institute

    Cambridge, United States

    22 h-index

    463 publications

    946.6K citations

  3. National Institutes of Health

    Bethesda, United States

    19 h-index

    151 publications

    234.6K citations

  4. Massachusetts General Hospital

    Boston, United States

    19 h-index

    257 publications

    521.9K citations

  5. Baylor College of Medicine

    Houston, United States

    16 h-index

    58 publications

    6.7K citations

  6. European Bioinformatics Institute

    Cambridge, United Kingdom

    16 h-index

    101 publications

    93.1K citations

  7. Wellcome Sanger Institute

    Cambridge, United Kingdom

    14 h-index

    51 publications

    21.1K citations

  8. National Center for Biotechnology Information

    Bethesda, United States

    14 h-index

    127 publications

    217.8K citations

1–8 of 799

Venues

  1. Nucleic Acids Research

    34 publications · 32.3K citations

    29

    h-index

  2. Bioinformatics

    30 publications · 2.8K citations

    24

    h-index

  3. Human Mutation

    20 publications · 2.4K citations

    17

    h-index

  4. Genome Medicine

    12 publications · 899 citations

    12

    h-index

  5. BMC Genomics

    11 publications · 1.2K citations

    11

    h-index

1–5