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A Comparison of Methods for Gene-Based Testing That Account for Linkage Disequilibrium.


ABSTRACT: Controlling the type I error rate while retaining sufficient power is a major concern in genome-wide association studies, which nowadays often examine more than a million single-nucleotide polymorphisms (SNPs) simultaneously. Methods such as the Bonferroni correction can lead to a considerable decrease in power due to the large number of tests conducted. Shifting the focus to higher functional structures (e.g., genes) can reduce the loss of power. This can be accomplished via the combination of p-values of SNPs that belong to the same structural unit to test their joint null hypothesis. However, standard methods for this purpose (e.g., Fisher's method) do not account for the dependence among the tests due to linkage disequilibrium (LD). In this paper, we review various adjustments t

SUBMITTER: Cinar O 

PROVIDER: S-EPMC9117705 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature