Concepedia

Functional Interpretation Of Variants

Functional Interpretation of Variants is a bioinformatics analysis approach that identifies and characterizes the biological and phenotypic consequences of genetic alterations in cancer genomes by distinguishing functionally impactful mutations from neutral variants through computational prediction, experimental evidence, or integrated omics data.

197

Publications

29.5K

Citations

3.4K

Authors

917

Institutions

Publications per year

2017–2026

133

Parents

Publications

197

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K 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

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

Hashem A. Shihab, Julian Gough, D.N. Cooper et al. · Human Mutation · 2012 · 1.4K citations · Full text

, , +16

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez et al. · Nature Communications · 2020 · 850 citations · Full text

, , +15

Brain cell type–specific enhancer–promoter interactome maps and disease <b>-</b> risk association

Alexi Nott, Inge R. Holtman, Nicole G. Coufal et al. · Science · 2019 · 793 citations · Full text

, , +17

1–5 of 197

Authors

3.4K

  1. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    7 publications · 13K citations

    7

    h-index

  2. MJ
    Mark J. Daly

    Broad Institute, United States

    7 publications · 11.1K citations

    7

    h-index

  3. FJ
    Fergus J. Couch

    Mayo Clinic, United States

    6 publications · 420 citations

    6

    h-index

  4. ÁN
    Álvaro N.A. Monteiro

    Moffitt Cancer Center, United States

    6 publications · 803 citations

    6

    h-index

  5. RD
    Ron Do

    Icahn School of Medicine at Mount Sinai, United States

    5 publications · 10.9K citations

    5

    h-index

1–5 of 3.4K

Institutions

917

  1. Broad Institute

    Cambridge, United States

    13 h-index

    312 publications

    562.9K citations

  2. University of Washington

    Seattle, United States

    13 h-index

    48 publications

    17.4K citations

  3. Harvard University

    Cambridge, United States

    12 h-index

    73 publications

    110.5K citations

  4. University of Cambridge

    Cambridge, United Kingdom

    11 h-index

    62 publications

    4.8K citations

  5. University of California San Diego

    San Diego, United States

    11 h-index

    45 publications

    29.6K citations

  6. Massachusetts General Hospital

    Boston, United States

    11 h-index

    124 publications

    319.7K citations

  7. University of California, San Francisco

    San Francisco, United States

    10 h-index

    38 publications

    2.9K citations

  8. Baylor College of Medicine

    Houston, United States

    10 h-index

    43 publications

    4.3K citations

1–8 of 917

Venues

  1. Nucleic Acids Research

    16 publications · 1.9K citations

    15

    h-index

  2. Human Mutation

    12 publications · 1.8K citations

    11

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 9 publications · 633 citations

    9

    h-index

  4. Nature Communications

    9 publications · 1.6K citations

    9

    h-index

  5. Bioinformatics

    8 publications · 573 citations

    8

    h-index

1–5