Powerful testing via hierarchical linkage disequilibrium in haplotype association studies.

ABSTRACT: Marginal tests based on individual SNPs are routinely used in genetic association studies. Studies have shown that haplotype-based methods may provide more power in disease mapping than methods based on single markers when, for example, multiple disease-susceptibility variants occur within the same gene. A limitation of haplotype-based methods is that the number of parameters increases exponentially with the number of SNPs, inducing a commensurate increase in the degrees of freedom and weakening the power to detect associations. To address this limitation, we introduce a hierarchical linkage disequilibrium model for disease mapping, based on a reparametrization of the multinomial haplotype distribution, where every parameter corresponds to the cumulant of each possible subset of a set of l

SUBMITTER: Balliu B 

PROVIDER: S-EPMC6637384 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature