Kernel-machine testing coupled with a rank-truncation method for genetic pathway analysis.

ABSTRACT: Traditional genome-wide association studies (GWASs) usually focus on single-marker analysis, which only accesses marginal effects. Pathway analysis, on the other hand, considers biological pathway gene marker hierarchical structure and therefore provides additional insights into the genetic architecture underlining complex diseases. Recently, a number of methods for pathway analysis have been proposed to assess the significance of a biological pathway from a collection of single-nucleotide polymorphisms. In this study, we propose a novel approach for pathway analysis that assesses the effects of genes using the sequence kernel association test and the effects of pathways using an extended adaptive rank truncated product statistic. It has been increasingly recognized that complex diseases a

SUBMITTER: Yan Q 

PROVIDER: S-EPMC4073214 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature