A statistical approach for rare-variant association testing in affected sibships.

ABSTRACT: Sequencing and exome-chip technologies have motivated development of novel statistical tests to identify rare genetic variation that influences complex diseases. Although many rare-variant association tests exist for case-control or cross-sectional studies, far fewer methods exist for testing association in families. This is unfortunate, because cosegregation of rare variation and disease status in families can amplify association signals for rare variants. Many researchers have begun sequencing (or genotyping via exome chips) familial samples that were either recently collected or previously collected for linkage studies. Because many linkage studies of complex diseases sampled affected sibships, we propose a strategy for association testing of rare variants for use in this study design.

SUBMITTER: Epstein MP 

PROVIDER: S-EPMC4385187 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature