Concepedia

Sequence Variant Annotation

Sequence Variant Annotation is a computational process that assigns biological, clinical, and functional metadata to a genetic variant identified in DNA sequence data, distinguishing it by its specific focus on interpreting the potential impact and relevance of germline variants within the context of human health and disease.

126

Publications

59.9K

Citations

1K

Authors

417

Institutions

Publications per year

2017–2026

45

Parents

Publications

126

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

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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.7K citations · Full text

, , +17

Ensembl 2019

Fiona Cunningham, Premanand Achuthan, Wasiu Akanni et al. · Nucleic Acids Research · 2018 · 1.1K citations · Full text

, , +16

1–5 of 126

Authors

1K

  1. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    8 publications · 2.7K citations

    8

    h-index

  2. FC
    Fiona Cunningham

    European Bioinformatics Institute, United Kingdom

    7 publications · 10.9K citations

    7

    h-index

  3. PF
    Paul Flicek

    European Bioinformatics Institute, United Kingdom

    7 publications · 11.4K citations

    7

    h-index

  4. PE
    Peter E.M. Taschner

    Leiden University Medical Center, Netherlands

    6 publications · 2.5K citations

    6

    h-index

  5. RD
    Raymond Dalgleish

    University of Leicester, United Kingdom

    5 publications · 2.2K citations

    5

    h-index

1–5 of 1K

Institutions

417

  1. European Bioinformatics Institute

    Cambridge, United Kingdom

    11 h-index

    147 publications

    162.7K citations

  2. Leiden University Medical Center

    Leiden, The Netherlands

    10 h-index

    31 publications

    5.4K citations

  3. National Institutes of Health

    Bethesda, United States

    7 h-index

    35 publications

    40.4K citations

  4. University of Leicester

    Leicester, United Kingdom

    7 h-index

    26 publications

    5.9K citations

  5. Emory University

    Atlanta, United States

    7 h-index

    30 publications

    34.4K citations

  6. National Center for Biotechnology Information

    Bethesda, United States

    6 h-index

    47 publications

    41.6K citations

  7. Inserm

    Paris, France

    6 h-index

    15 publications

    2.1K citations

  8. Harvard University

    Cambridge, United States

    5 h-index

    24 publications

    34K citations

1–8 of 417

Venues

  1. Bioinformatics

    14 publications · 1.6K citations

    14

    h-index

  2. Human Mutation

    13 publications · 4.3K citations

    13

    h-index

  3. Nucleic Acids Research

    14 publications · 6.2K citations

    13

    h-index

  4. BMC Bioinformatics

    7 publications · 264 citations

    7

    h-index

  5. BMC Genomics

    6 publications · 1.2K citations

    6

    h-index

1–5