Concepedia

Variant Data Integration

Variant Data Integration is a computational methodology that integrates genetic variant records across heterogeneous genomic datasets by reconciling differences in annotation, nomenclature, and genomic context to enable coherent analysis of variant effects and associations.

95

Publications

29K

Citations

1.1K

Authors

303

Institutions

Publications per year

2017–2026

48

Parents

Publications

95

The Ensembl Variant Effect Predictor

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

, , +17

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

, , +17

The DisGeNET knowledge platform for disease genomics: 2019 update

Janet Piñero, Juan Manuel Ramírez‐Anguita, Josep Saüch-Pitarch et al. · Nucleic Acids Research · 2019 · 2.8K citations · Full text

, , +16

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

Justin M. Zook, Brad Chapman, Jason Wang et al. · Nature Biotechnology · 2014 · 948 citations · Full text

, , +13

The UCSC Genome Browser database: 2014 update

Donna Karolchik, Galt P Barber, Jonathan D. Casper et al. · Nucleic Acids Research · 2013 · 705 citations · Full text

, , +17

1–5 of 95

Authors

1.1K

  1. PF
    Paul Flicek

    European Bioinformatics Institute, United Kingdom

    5 publications · 9.7K citations

    5

    h-index

  2. WM
    William McLaren

    European Bioinformatics Institute, United Kingdom

    5 publications · 9.7K citations

    5

    h-index

  3. FC
    Fiona Cunningham

    European Bioinformatics Institute, United Kingdom

    5 publications · 9.7K citations

    5

    h-index

  4. SH
    Sarah Hunt

    Wellcome Sanger Institute, United Kingdom

    4 publications · 9.5K citations

    4

    h-index

  5. RM
    Robert M. Kuhn

    University of California, Santa Cruz, United States

    3 publications · 864 citations

    3

    h-index

1–5 of 1.1K

Institutions

303

  1. European Bioinformatics Institute

    Cambridge, United Kingdom

    10 h-index

    73 publications

    85.9K citations

  2. National Institutes of Health

    Bethesda, United States

    7 h-index

    17 publications

    9K citations

  3. National Center for Biotechnology Information

    Bethesda, United States

    6 h-index

    14 publications

    8.7K citations

  4. Harvard University

    Cambridge, United States

    6 h-index

    17 publications

    6.6K citations

  5. Baylor College of Medicine

    Houston, United States

    4 h-index

    24 publications

    1.2K citations

  6. Wellcome Trust

    London, United Kingdom

    4 h-index

    20 publications

    1.8K citations

  7. University of California, Santa Cruz

    Santa Cruz, United States

    4 h-index

    42 publications

    18.9K citations

  8. Chinese Academy of Sciences

    Beijing, China

    4 h-index

    18 publications

    1.3K citations

1–8 of 303

Venues

  1. Nucleic Acids Research

    18 publications · 13K citations

    17

    h-index

  2. Human Mutation

    15 publications · 894 citations

    14

    h-index

  3. Bioinformatics

    13 publications · 1.6K citations

    12

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 392 citations

    5

    h-index

  5. Genome biology

    4 publications · 9.4K citations

    4

    h-index

1–5