Concepedia

Variant Functional Annotation

Variant Functional Annotation is a computational methodology that categorizes genetic variants by their biological effects, distinguishing itself through the integration of genomic, epigenomic, and transcriptomic evidence to infer the functional impact of allelic changes on gene function and regulation.

170

Publications

39.4K

Citations

2.2K

Authors

696

Institutions

Publications per year

2017–2026

97

Parents

Publications

170

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

Functional mapping and annotation of genetic associations with FUMA

Kyoko Watanabe, Erdogan Taskesen, Arjen van Bochoven et al. · Nature Communications · 2017 · 4.5K citations · Full text

, , +17

A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles

Aravind Subramanian, Rajiv Narayan, Steven M. Corsello et al. · Cell · 2017 · 3.7K citations · Full text

, , +16

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

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

, , +17

1–5 of 170

Authors

2.2K

  1. GR
    Graham R. S. Ritchie

    Wellcome Sanger Institute, United Kingdom

    6 publications · 2.3K citations

    6

    h-index

  2. PF
    Paul Flicek

    European Bioinformatics Institute, United Kingdom

    5 publications · 3.9K citations

    5

    h-index

  3. ID
    Ian Dunham

    Wellcome Sanger Institute, United Kingdom

    5 publications · 2.1K citations

    5

    h-index

  4. KW
    Kai Wang

    Anhui Medical University, China

    5 publications · 16.2K citations

    5

    h-index

  5. DJ
    David J. Porteous

    University of Edinburgh, United Kingdom

    4 publications · 1.5K citations

    4

    h-index

1–5 of 2.2K

Institutions

696

  1. Harvard University

    Cambridge, United States

    16 h-index

    123 publications

    52.8K citations

  2. Broad Institute

    Cambridge, United States

    14 h-index

    233 publications

    240.8K citations

  3. European Bioinformatics Institute

    Cambridge, United Kingdom

    10 h-index

    40 publications

    29.6K citations

  4. Yale University

    New Haven, United States

    9 h-index

    47 publications

    6.1K citations

  5. Massachusetts General Hospital

    Boston, United States

    9 h-index

    58 publications

    23.4K citations

  6. Icahn School of Medicine at Mount Sinai

    New York, United States

    9 h-index

    70 publications

    7.9K citations

  7. Wellcome Sanger Institute

    Cambridge, United Kingdom

    9 h-index

    203 publications

    223.8K citations

  8. University of Michigan

    Ann Arbor, United States

    8 h-index

    109 publications

    22.8K citations

1–8 of 696

Venues

  1. Nucleic Acids Research

    17 publications · 17.4K citations

    16

    h-index

  2. Bioinformatics

    17 publications · 3.6K citations

    13

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 9 publications · 274 citations

    9

    h-index

  4. PLoS ONE

    8 publications · 271 citations

    8

    h-index

  5. Nature Communications

    8 publications · 5K citations

    8

    h-index

1–5