Identifying rare variant associations in population-based and family-based designs.

ABSTRACT: For almost all complex traits studied in humans, the identified genetic variants discovered to date have accounted for only a small portion of the estimated trait heritability. Consequently, several methods have been developed to identify rare single-nucleotide variants associated with complex traits for population-based designs. Because rare disease variants tend to be enriched in families containing multiple affected individuals, family-based designs can play an important role in the identification of rare causal variants. In this study, we utilize Genetic Analysis Workshop 18 simulated data to examine the performance of some existing rare variant identification methods for unrelated individuals, including our recent method (rPLS). The simulated data is used to investigate whether there

SUBMITTER: Turkmen AS 

PROVIDER: S-EPMC4143803 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature