Concepedia

Causal Variant Prioritization

Causal Variant Prioritization is a computational method that identifies and ranks genetic variants most likely to be responsible for observed phenotypic effects by integrating genomic data with functional annotations and statistical evidence of association.

164

Publications

22K

Citations

2.1K

Authors

807

Institutions

Publications per year

2017–2026

104

Parents

Publications

164

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

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

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease

Lucas D. Ward, Manolis Kellis · Nucleic Acids Research · 2015 · 984 citations · Full text

, , +17

FINEMAP: efficient variable selection using summary data from genome-wide association studies

Christian Benner, Chris C. A. Spencer, Aki S. Havulinna et al. · Bioinformatics · 2016 · 914 citations · Full text

, , +14

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 164

Authors

2.1K

  1. KA
    Kristin Ardlie

    Broad Institute, United States

    6 publications · 1K citations

    6

    h-index

  2. FA
    François Aguet

    Broad Institute, United States

    6 publications · 1K citations

    6

    h-index

  3. MK
    Masahiro Kanai

    Broad Institute, United States

    5 publications · 686 citations

    5

    h-index

  4. HK
    Hilary K. Finucane

    Harvard University, United States

    5 publications · 684 citations

    5

    h-index

  5. JC
    Jacob C. Ulirsch

    Broad Institute, United States

    4 publications · 615 citations

    4

    h-index

1–5 of 2.1K

Institutions

807

  1. Harvard University

    Cambridge, United States

    24 h-index

    132 publications

    16K citations

  2. Broad Institute

    Cambridge, United States

    22 h-index

    212 publications

    27.5K citations

  3. Massachusetts General Hospital

    Boston, United States

    13 h-index

    77 publications

    7.4K citations

  4. University of Cambridge

    Cambridge, United Kingdom

    13 h-index

    63 publications

    6.1K citations

  5. Stanford University

    Stanford, United States

    13 h-index

    55 publications

    3.6K citations

  6. Brigham and Women's Hospital

    Boston, United States

    12 h-index

    35 publications

    3.4K citations

  7. Wellcome Sanger Institute

    Cambridge, United Kingdom

    12 h-index

    70 publications

    15.8K citations

  8. University of Oxford

    Oxford, United Kingdom

    11 h-index

    23 publications

    3.5K citations

1–8 of 807

Venues

  1. Nature Communications

    12 publications · 5.8K citations

    12

    h-index

  2. Bioinformatics

    12 publications · 1.8K citations

    12

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 10 publications · 323 citations

    9

    h-index

  4. Nucleic Acids Research

    8 publications · 5.4K citations

    8

    h-index

  5. Human Mutation

    8 publications · 417 citations

    8

    h-index

1–5