Concepedia

Variant Representation

Variant Representation is a computational framework that formally encodes genetic variation within a reference genome by specifying the precise location, reference allele, and alternate allele(s) to enable systematic identification, comparison, and interpretation of genomic variants.

46

Publications

22.9K

Citations

282

Authors

132

Institutions

Publications per year

2017–2026

22

Parents

Publications

46

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

, , +17

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin, Pi-Chuan Chang, David H. Alexander et al. · Nature Biotechnology · 2018 · 1.9K citations

, , +14

Unified representation of genetic variants

Adrian Tan, Gonçalo R. Abecasis, Hyun Min Kang · Bioinformatics · 2015 · 470 citations · Full text

, , +15

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen et al. · Human Mutation · 2007 · 399 citations

, , +17

The landscape of human STR variation

Thomas Willems, Melissa Gymrek, Gareth Highnam et al. · Genome Research · 2014 · 312 citations · Full text

, , +15

1–5 of 46

Authors

282

  1. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    4 publications · 535 citations

    4

    h-index

  2. OL
    Obi L. Griffith

    Washington University in St. Louis, United States

    3 publications · 86 citations

    3

    h-index

  3. RY
    Ronak Y. Patel

    Baylor College of Medicine, United States

    3 publications · 83 citations

    3

    h-index

  4. KT
    Kirill Tsukanov

    European Bioinformatics Institute, United Kingdom

    3 publications · 200 citations

    3

    h-index

  5. PE
    Peter E.M. Taschner

    Leiden University Medical Center, Netherlands

    3 publications · 454 citations

    3

    h-index

1–5 of 282

Institutions

132

  1. Broad Institute

    Cambridge, United States

    8 h-index

    41 publications

    217.6K citations

  2. Baylor College of Medicine

    Houston, United States

    5 h-index

    12 publications

    273 citations

  3. Massachusetts General Hospital

    Boston, United States

    5 h-index

    5 publications

    406 citations

  4. European Bioinformatics Institute

    Cambridge, United Kingdom

    5 h-index

    23 publications

    2.1K citations

  5. University of California, Santa Cruz

    Santa Cruz, United States

    4 h-index

    8 publications

    344 citations

  6. Leiden University Medical Center

    Leiden, The Netherlands

    4 h-index

    19 publications

    2.3K citations

  7. National Cancer Institute

    Bethesda, United States

    4 h-index

    4 publications

    107 citations

  8. Wellcome Sanger Institute

    Cambridge, United Kingdom

    3 h-index

    19 publications

    213.5K citations

1–8 of 132

Venues

  1. Bioinformatics

    8 publications · 18.5K citations

    8

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 74 citations

    5

    h-index

  3. Genome biology

    4 publications · 410 citations

    4

    h-index

  4. Human Mutation

    3 publications · 434 citations

    3

    h-index

  5. Nature Genetics

    3 publications · 378 citations

    3

    h-index

1–5