Pathway-based approaches for sequencing-based genome-wide association studies.

ABSTRACT: For analyzing complex trait association with sequencing data, most current studies test aggregated effects of variants in a gene or genomic region. Although gene-based tests have insufficient power even for moderately sized samples, pathway-based analyses combine information across multiple genes in biological pathways and may offer additional insight. However, most existing pathway association methods are originally designed for genome-wide association studies, and are not comprehensively evaluated for sequencing data. Moreover, region-based rare variant association methods, although potentially applicable to pathway-based analysis by extending their region definition to gene sets, have never been rigorously tested. In the context of exome-based studies, we use simulated and real datasets

SUBMITTER: Wu G 

PROVIDER: S-EPMC3856324 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature