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Large‐scale sequencing and genotyping data provide an opportunity to integrate external samples as controls to improve power of association tests. However, due to the systematic differences between genotyped samples from different studies, naively aggregating the controls could lead to inflation in Type I error rates. There has been recent effort to integrate external controls while adjusting for...
In genetic association analysis, a joint test of multiple distinct phenotypes can increase power to identify sets of trait‐associated variants within genes or regions of interest. Existing multiphenotype tests for rare variants make specific assumptions about the patterns of association with underlying causal variants, and the violation of these assumptions can reduce power to detect association....
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