Concepedia

Variant Annotation Systems

Variant Annotation System is a computational framework within genomic databases that identifies, characterizes, and interprets genetic variants by integrating biological knowledge to assign functional and clinical significance to sequence alterations.

133

Publications

31.2K

Citations

998

Authors

382

Institutions

Publications per year

2017–2026

62

Parents

Publications

133

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text

, , +17

VarSome: the human genomic variant search engine

Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris et al. · Bioinformatics · 2018 · 1.9K citations · Full text

, , +14

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

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren, Bethan Pritchard, Daniel Ríos et al. · Bioinformatics · 2010 · 1.7K citations · Full text

, , +17

Ensembl 2015

Fiona Cunningham, M Ridwan Amode, Daniel Barrell et al. · Nucleic Acids Research · 2014 · 1.2K citations · Full text

, , +15

1–5 of 133

Authors

998

  1. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    8 publications · 3.2K citations

    8

    h-index

  2. PF
    Paul Flicek

    European Bioinformatics Institute, United Kingdom

    6 publications · 4.2K citations

    6

    h-index

  3. FC
    Fiona Cunningham

    European Bioinformatics Institute, United Kingdom

    6 publications · 4.2K citations

    6

    h-index

  4. PE
    Peter E.M. Taschner

    Leiden University Medical Center, Netherlands

    5 publications · 2.6K citations

    5

    h-index

  5. RD
    Raymond Dalgleish

    University of Leicester, United Kingdom

    4 publications · 2.1K citations

    4

    h-index

1–5 of 998

Institutions

382

  1. Inserm

    Paris, France

    10 h-index

    49 publications

    7K citations

  2. Baylor College of Medicine

    Houston, United States

    8 h-index

    48 publications

    2.1K citations

  3. Leiden University Medical Center

    Leiden, The Netherlands

    8 h-index

    30 publications

    8.9K citations

  4. European Bioinformatics Institute

    Cambridge, United Kingdom

    6 h-index

    147 publications

    135K citations

  5. Karolinska Institutet

    Stockholm, Sweden

    5 h-index

    5 publications

    796 citations

  6. University of California, Berkeley

    Berkeley, United States

    4 h-index

    28 publications

    17.8K citations

  7. Harvard University

    Cambridge, United States

    4 h-index

    13 publications

    2.6K citations

  8. Texas Children's Hospital

    Houston, United States

    4 h-index

    9 publications

    260 citations

1–8 of 382

Venues

  1. Nucleic Acids Research

    29 publications · 5.6K citations

    24

    h-index

  2. Human Mutation

    21 publications · 4K citations

    18

    h-index

  3. Bioinformatics

    17 publications · 4.6K citations

    16

    h-index

  4. BMC Bioinformatics

    4 publications · 108 citations

    4

    h-index

  5. Briefings in Bioinformatics

    4 publications · 767 citations

    4

    h-index

1–5