Integrating external controls in case-control studies improves power for rare-variant tests.

ABSTRACT: 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 batch effect, such as the integrating External Controls into Association Test (iECAT) and its score-based single variant tests. Building on the original iECAT framework, we propose an iECAT-Score region-based test that increases power for rare-variant tests when integrating external controls. This method assesses the systematic batch effect between internal and external samples at each variant and

SUBMITTER: Li Y 

PROVIDER: S-EPMC9393083 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature