Concepedia

Variant Prioritization

Variant Prioritization is a computational strategy within genomic analysis that ranks detected genetic variants according to their predicted biological significance, clinical relevance, or functional impact, distinguishing it from related analytical steps by its focus on identifying the subset of variants most likely to contribute to phenotypic outcomes.

209

Publications

17.1K

Citations

2.3K

Authors

743

Institutions

Publications per year

2017–2026

135

Variants

Variant Ranking

Parents

Publications

209

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

Hui Yang, Kai Wang · Nature Protocols · 2015 · 882 citations · Full text

, , +12

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

Jaroslav Bendl, Jan Štourač, Ondrej Salanda et al. · PLoS Computational Biology · 2014 · 880 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

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

New England Journal of Medicine · 2021 · 749 citations · Full text

, , +17

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

Hannah Carter, Christopher Douville, Peter D. Stenson et al. · BMC Genomics · 2013 · 611 citations · Full text

, , +16

1–5 of 209

Authors

2.3K

  1. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    8 publications · 2.4K citations

    8

    h-index

  2. MG
    Martin G. Reese

    Omicia (United States), United States

    6 publications · 788 citations

    6

    h-index

  3. MY
    Mark Yandell

    University of Utah, United States

    6 publications · 788 citations

    6

    h-index

  4. PD
    Peter D. Stenson

    Cardiff University, United Kingdom

    5 publications · 1.4K citations

    5

    h-index

  5. BM
    Barry Moore

    University of Utah, United States

    5 publications · 593 citations

    5

    h-index

1–5 of 2.3K

Institutions

743

  1. Harvard University

    Cambridge, United States

    14 h-index

    42 publications

    4.8K citations

  2. University of Utah

    Salt Lake City, United States

    14 h-index

    66 publications

    5.8K citations

  3. Broad Institute

    Cambridge, United States

    13 h-index

    53 publications

    6.6K citations

  4. Massachusetts General Hospital

    Boston, United States

    12 h-index

    65 publications

    6.9K citations

  5. Johns Hopkins University

    Baltimore, United States

    9 h-index

    19 publications

    4.2K citations

  6. Inserm

    Paris, France

    8 h-index

    28 publications

    5.6K citations

  7. Cardiff University

    Cardiff, United Kingdom

    8 h-index

    26 publications

    5K citations

  8. Boston Children's Hospital

    Boston, United States

    7 h-index

    35 publications

    2K citations

1–8 of 743

Venues

  1. Human Mutation

    16 publications · 1.3K citations

    14

    h-index

  2. Bioinformatics

    13 publications · 553 citations

    11

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 9 publications · 770 citations

    9

    h-index

  4. Nucleic Acids Research

    9 publications · 821 citations

    9

    h-index

  5. Scientific Reports

    8 publications · 428 citations

    8

    h-index

1–5