Concepedia

Functional Variant Annotation

Functional Variant Annotation is a computational genomics method that identifies and characterizes the biological consequences of genetic variants by mapping them to functional genomic elements such as regulatory regions, coding sequences, or epigenetic marks to determine their potential impact on gene function and disease risk.

90

Publications

32.1K

Citations

1.1K

Authors

338

Institutions

Publications per year

2017–2026

44

Parents

Publications

90

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

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text

, , +17

The ExAC browser: displaying reference data information from over 60 000 exomes

Konrad J. Karczewski, Ben Weisburd, Brett Thomas et al. · Nucleic Acids Research · 2016 · 833 citations · Full text

, , +17

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

1–5 of 90

Authors

1.1K

  1. AZ
    Abu Z M Dayem Ullah

    Queen Mary University of London, United Kingdom

    3 publications · 489 citations

    3

    h-index

  2. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    3 publications · 779 citations

    3

    h-index

  3. CC
    Claude Chelala

    Queen Mary University of London, United Kingdom

    3 publications · 489 citations

    3

    h-index

  4. NR
    Nicholas R. Lemoine

    Queen Mary University of London, United Kingdom

    3 publications · 489 citations

    3

    h-index

  5. MS
    M Snyder

    Stanford University, United States

    3 publications · 3.2K citations

    3

    h-index

1–5 of 1.1K

Institutions

338

  1. Broad Institute

    Cambridge, United States

    9 h-index

    99 publications

    29.1K citations

  2. Harvard University

    Cambridge, United States

    8 h-index

    73 publications

    15.7K citations

  3. University of California, Los Angeles

    Los Angeles, United States

    6 h-index

    18 publications

    3K citations

  4. Stanford University

    Stanford, United States

    5 h-index

    69 publications

    58.5K citations

  5. Icahn School of Medicine at Mount Sinai

    New York, United States

    5 h-index

    23 publications

    7.9K citations

  6. Fred Hutch Cancer Center

    Seattle, United States

    5 h-index

    29 publications

    6.4K citations

  7. The University of Texas MD Anderson Cancer Center

    Houston, United States

    5 h-index

    18 publications

    750 citations

  8. University of Pennsylvania

    Philadelphia, United States

    5 h-index

    13 publications

    33.2K citations

1–8 of 338

Venues

  1. Nucleic Acids Research

    14 publications · 18.4K citations

    14

    h-index

  2. Bioinformatics

    8 publications · 1.2K citations

    8

    h-index

  3. PLoS ONE

    5 publications · 123 citations

    5

    h-index

  4. Genome Research

    GR · 4 publications · 3K citations

    4

    h-index

  5. Nature Genetics

    4 publications · 1.5K citations

    4

    h-index

1–5