Concepedia

Rare Variant Analysis

Rare Variant Analysis is a set of statistical and computational methods in genetic epidemiology and statistical genetics that are specifically designed to detect and quantify associations between low-frequency genetic variants (typically defined by a minor allele frequency below a chosen threshold) and phenotypic traits or diseases, often by aggregating variants within genes or genomic regions to improve inferential power.

1.5K

Publications

137.3K

Citations

17.2K

Authors

2.9K

Institutions

Publications per year

2017–2026

680

Parents

Children

Publications

1.5K

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

, , +17

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li · Bioinformatics · 2011 · 7.4K citations · Full text

, , +16

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John Tate, Sally Bamford, Harry Jubb et al. · Nucleic Acids Research · 2018 · 5.3K citations · Full text

, , +17

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

Bryan Howie, Peter Donnelly, Jonathan Marchini · PLoS Genetics · 2009 · 4.1K citations · Full text

, , +17

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

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1–5 of 1.5K

Authors

17.2K

  1. EB
    Eric Boerwinkle

    The University of Texas Health Science Center at Houston, United States

    55 publications · 7.8K citations

    34

    h-index

  2. GR
    Gonçalo R. Abecasis

    University of Michigan, United States

    46 publications · 12.5K citations

    32

    h-index

  3. MJ
    Mark J. Daly

    Broad Institute, United States

    33 publications · 6.8K citations

    28

    h-index

  4. SG
    Stacey Gabriel

    Broad Institute, United States

    30 publications · 7.6K citations

    27

    h-index

  5. JI
    Jerome I. Rotter

    Harbor–UCLA Medical Center, United States

    34 publications · 4.2K citations

    25

    h-index

1–5 of 17.2K

Institutions

2.9K

  1. Harvard University

    Cambridge, United States

    75 h-index

    760 publications

    157K citations

  2. Broad Institute

    Cambridge, United States

    73 h-index

    1K publications

    360K citations

  3. Massachusetts General Hospital

    Boston, United States

    66 h-index

    601 publications

    126.2K citations

  4. University of Michigan

    Ann Arbor, United States

    52 h-index

    651 publications

    256K citations

  5. University of Oxford

    Oxford, United Kingdom

    49 h-index

    313 publications

    166.6K citations

  6. University of Washington

    Seattle, United States

    48 h-index

    874 publications

    190.2K citations

  7. Johns Hopkins University

    Baltimore, United States

    47 h-index

    405 publications

    87.2K citations

  8. Brigham and Women's Hospital

    Boston, United States

    46 h-index

    418 publications

    128.7K citations

1–8 of 2.9K

Venues

  1. The American Journal of Human Genetics

    AJHG · 51 publications · 15.6K citations

    40

    h-index

  2. PLoS Genetics

    53 publications · 10.2K citations

    37

    h-index

  3. Nature Communications

    51 publications · 4.9K citations

    36

    h-index

  4. Genetic Epidemiology

    98 publications · 4.6K citations

    36

    h-index

  5. PLoS ONE

    66 publications · 2.2K citations

    27

    h-index

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