Concepedia

Variant Effect Annotation

Variant Effect Annotation is a computational method in genomic sequence annotation that identifies and characterizes the functional consequences of genetic variants by determining their impact on gene structure, regulation, or protein function within the genome.

42

Publications

18.6K

Citations

466

Authors

145

Institutions

Publications per year

2017–2026

28

Parents

Publications

42

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

Ensembl 2015

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

, , +15

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Hashem A. Shihab, Mark F. Rogers, Julian Gough et al. · Bioinformatics · 2015 · 743 citations · Full text

, , +17

Better prediction of functional effects for sequence variants

Maximilian Hecht, Yana Bromberg, Burkhard Rost · BMC Genomics · 2015 · 664 citations · Full text

, , +17

Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk

Jian Zhou, Chandra L. Theesfeld, Kevin Yao et al. · Nature Genetics · 2018 · 605 citations

, , +16

1–5 of 42

Authors

466

  1. CH
    Charlotte H. Wang

    Parker Institute for Cancer Immunotherapy, United States

    2 publications · 467 citations

    2

    h-index

  2. SS
    Sumithra Sankararaman

    Washington University in St. Louis, United States

    2 publications · 197 citations

    2

    h-index

  3. HX
    Huiming Xia

    University of Florida, United States

    2 publications · 197 citations

    2

    h-index

  4. SL
    Sharon L. Freshour

    Washington University in St. Louis, United States

    2 publications · 197 citations

    2

    h-index

  5. GG
    Ge Gao

    Peking University, China

    2 publications · 23 citations

    2

    h-index

1–5 of 466

Institutions

145

  1. European Bioinformatics Institute

    Cambridge, United Kingdom

    6 h-index

    162 publications

    105.5K citations

  2. Wellcome Trust

    London, United Kingdom

    4 h-index

    54 publications

    51.2K citations

  3. Wellcome Sanger Institute

    Cambridge, United Kingdom

    3 h-index

    15 publications

    11.1K citations

  4. The University of Melbourne

    Melbourne, Australia

    3 h-index

    9 publications

    489 citations

  5. Bioinformatics Institute

    Saint Petersburg, Russia

    2 h-index

    4 publications

    219 citations

  6. Universitat Pompeu Fabra

    Barcelona, Spain

    2 h-index

    4 publications

    628 citations

  7. Texas A&M University

    College Station, United States

    2 h-index

    4 publications

    68 citations

  8. Centre for Genomic Regulation

    Barcelona, Spain

    2 h-index

    5 publications

    469 citations

1–8 of 145

Venues

  1. Nucleic Acids Research

    5 publications · 1.8K citations

    5

    h-index

  2. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 5 publications · 224 citations

    5

    h-index

  3. Nature Communications

    3 publications · 451 citations

    3

    h-index

  4. Bioinformatics

    3 publications · 895 citations

    3

    h-index

  5. BMC Genomics

    3 publications · 808 citations

    3

    h-index

1–5