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Testing a Large Number of Composite Null Hypotheses Using Conditionally Symmetric Multidimensional Gaussian Mixtures in Genome-Wide Studies

用条件对称多维高斯混合检验基因组研究的大量复合原假设

Causal mediation, pleiotropy, and replication analyses are three highly popular genetic study designs. Although these analyses address different scientific questions, the underlying statistical inference problems all involve large-scale testing of composite null hypotheses. The goal is to determine whether all null hypotheses - as opposed to at least one - in a set of individual tests should simultaneously be rejected. Recently, various methods have been proposed for each of…

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Genetic Variant Set-Based Tests Using the Generalized Berk–Jones Statistic With Application to a Genome-Wide Association Study of Breast Cancer

基于广义Berk–Jones统计量的遗传变异集合检验及乳腺癌应用

Studying the effects of groups of single nucleotide polymorphisms (SNPs), as in a gene, genetic pathway, or network, can provide novel insight into complex diseases like breast cancer, uncovering new genetic associations and augmenting the information that can be gleaned from studying SNPs individually. Common challenges in set-based genetic association testing include weak effect sizes, correlation between SNPs in a SNP-set, and scarcity of signals, with individual SNP…

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