Concepedia

Variant Effect Prioritization

Variant Effect Prioritization is a computational methodology in genetic fine-mapping that integrates genomic annotations, functional data, and statistical evidence to prioritize likely causal variants by distinguishing their biological impact from neutral genetic variation.

56

Publications

10.4K

Citations

946

Authors

398

Institutions

Publications per year

2017–2026

45

Parents

Publications

56

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

, , +17

variancePartition: interpreting drivers of variation in complex gene expression studies

Gabriel E. Hoffman, Eric E. Schadt · BMC Bioinformatics · 2016 · 885 citations · Full text

, , +17

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

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

Philipp Rentzsch, Max Schubach, Jay Shendure et al. · Genome Medicine · 2021 · 676 citations · Full text

, , +17

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Edward Mountjoy, Ellen M. Schmidt, Miguel Carmona et al. · Nature Genetics · 2021 · 634 citations · Full text

, , +16

1–5 of 56

Authors

946

  1. BL
    Benjamin Livesey

    University of Edinburgh, United Kingdom

    3 publications · 328 citations

    3

    h-index

  2. MG
    Maya Ghoussaini

    University of Cambridge, United Kingdom

    4 publications · 743 citations

    3

    h-index

  3. JC
    Jacob C. Ulirsch

    Broad Institute, United States

    2 publications · 159 citations

    3

    h-index

  4. RC
    Ran Cui

    Broad Institute, United States

    2 publications · 159 citations

    3

    h-index

  5. HK
    Hilary K. Finucane

    Harvard University, United States

    2 publications · 159 citations

    3

    h-index

1–5 of 946

Institutions

398

  1. Broad Institute

    Cambridge, United States

    9 h-index

    37 publications

    3.5K citations

  2. Harvard University

    Cambridge, United States

    9 h-index

    53 publications

    3.4K citations

  3. Brigham and Women's Hospital

    Boston, United States

    6 h-index

    29 publications

    2K citations

  4. Icahn School of Medicine at Mount Sinai

    New York, United States

    6 h-index

    12 publications

    2.3K citations

  5. University of Washington

    Seattle, United States

    6 h-index

    14 publications

    14.4K citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    5 h-index

    6 publications

    244 citations

  7. Massachusetts General Hospital

    Boston, United States

    5 h-index

    15 publications

    1.1K citations

  8. University of Edinburgh

    Edinburgh, United Kingdom

    4 h-index

    11 publications

    981 citations

1–8 of 398

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 293 citations

    8

    h-index

  2. Nature Genetics

    4 publications · 1K citations

    5

    h-index

  3. BMC Bioinformatics

    4 publications · 1K citations

    4

    h-index

  4. Nature Communications

    3 publications · 976 citations

    4

    h-index

  5. PLoS ONE

    3 publications · 78 citations

    3

    h-index

1–5