Controlling for human population stratification in rare variant association studies.

ABSTRACT: Population stratification is a confounder of genetic association studies. In analyses of rare variants, corrections based on principal components (PCs) and linear mixed models (LMMs) yield conflicting conclusions. Studies evaluating these approaches generally focused on limited types of structure and large sample sizes. We investigated the properties of several correction methods through a large simulation study using real exome data, and several within- and between-continent stratification scenarios. We considered different sample sizes, with situations including as few as 50 cases, to account for the analysis of rare disorders. Large samples showed that accounting for stratification was more difficult with a continental than with a worldwide structure. When considering a sample of 50 cas

SUBMITTER: Bouaziz M 

PROVIDER: S-EPMC8463695 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature