Efficient testing and effect size estimation for set-based genetic association inference via semiparametric multilevel mixture modeling.

Abstract excerpt

In genetic association studies, rare variants with extremely low allele frequencies play a crucial role in complex traits. Therefore, set-based testing methods that jointly assess the effects of groups of single nucleotide polymorphisms (SNPs) were developed to increase the powers of the association tests. However, these powers are still insufficient, and precise estimations of the effect sizes of individual SNPs...

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