Integrating genetic and gene expression evidence into genome-wide association analysis of gene sets.

ABSTRACT: Single variant or single gene analyses generally account for only a small proportion of the phenotypic variation in complex traits. Alternatively, gene set or pathway association analyses are playing an increasingly important role in uncovering genetic architectures of complex traits through the identification of systematic genetic interactions. Two dominant paradigms for gene set analyses are association analyses based on SNP genotypes and those based on gene expression profiles. However, gene-disease association can manifest in many ways, such as alterations of gene expression, genotype, and copy number; thus, an integrative approach combining multiple forms of evidence can more accurately and comprehensively capture pathway associations. We have developed a single statistical framework,

SUBMITTER: Xiong Q 

PROVIDER: S-EPMC3266045 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature