A flexible approach for the analysis of rare variants allowing for a mixture of effects on binary or quantitative traits.

ABSTRACT: Multiple rare variants either within or across genes have been hypothesised to collectively influence complex human traits. The increasing availability of high throughput sequencing technologies offers the opportunity to study the effect of rare variants on these traits. However, appropriate and computationally efficient analytical methods are required to account for collections of rare variants that display a combination of protective, deleterious and null effects on the trait. We have developed a novel method for the analysis of rare genetic variation in a gene, region or pathway that, by simply aggregating summary statistics at each variant, can: (i) test for the presence of a mixture of effects on a trait; (ii) be applied to both binary and quantitative traits in population-based and f

SUBMITTER: Clarke GM 

PROVIDER: S-EPMC3744430 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature