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The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.

PLoS genetics - 1 Apr 2015

Moutsianas Loukas, Agarwala Vineeta, Fuchsberger Christian, Flannick Jason, Rivas Manuel A, Gaulton Kyle J, Albers Patrick K, McVean Gil, Boehnke Michael, Altshuler David, McCarthy Mark I

Abstract excerpt

Genome and exome sequencing in large cohorts enables characterization of the role of rare variation in complex diseases. Success in this endeavor, however, requires investigators to test a diverse array of genetic hypotheses which differ in the number, frequency and effect sizes of underlying causal variants. In this study, we evaluated the power of gene-based association methods to interrogate such hypotheses,...

Topics

Alleles
Computer Simulation
Diabetes Mellitus, Type 2
Exome
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Humans

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Identifiers

PMID: 25906071
DOI: 10.1371/journal.pgen.1005165
PMCID: PMC4407972

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