MixMAP: An R Package for Mixed Modeling of Meta-Analysis p Values in Genetic Association Studies

Gregory J. Matthews, Andrea S. Foulkes

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Genetic association studies are commonly conducted to identify genes that explain the variability in a measured trait (e.g., disease status or disease progression). Often, results of these studies are summarized in the form of a p value corresponding to a test of association between each single nucleotide polymorphisms (SNPs) and the trait under study. As genes are comprised of multiple SNPs, post hoc approaches are generally applied to determine gene-level association. For example, if any SNP within a gene is significantly associated with the trait at a genome-wide significance level (p < 5 x 10e-8), then the corresponding gene is considered significant. A complementary strategy, termed mix ed modeling of meta-analysis p values (MixMAP) was proposed recently to characterize formally the associations between genes (or gene regions) and a trait based on multiple SNP-level p values. Here, the MixMAP package is presented as a means for implementing the MixMAP procedure in R.

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