Binomial Mixture Model Based Association Testing to Account for Genetic Heterogeneity for GWAS.

ABSTRACT: Genome-wide association studies (GWAS) have confirmed the ubiquitous existence of genetic heterogeneity for common disease: multiple common genetic variants have been identified to be associated, while many more are yet expected to be uncovered. However, the single SNP (single-nucleotide polymorphism) based trend test (or its variants) that has been dominantly used in GWAS is based on contrasting the allele frequency difference between the case and control groups, completely ignoring possible genetic heterogeneity. In spite of the widely accepted notion of genetic heterogeneity, we are not aware of any previous attempt to apply genetic heterogeneity motivated methods in GWAS. Here, to explicitly account for unknown genetic heterogeneity, we applied a mixture model based single-SNP test to

SUBMITTER: Xu Z 

PROVIDER: S-EPMC4814320 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature