Robust and Powerful Affected Sibpair Test for Rare Variant Association.

ABSTRACT: Advances in DNA sequencing technology facilitate investigating the impact of rare variants on complex diseases. However, using a conventional case-control design, large samples are needed to capture enough rare variants to achieve sufficient power for testing the association between suspected loci and complex diseases. In such large samples, population stratification may easily cause spurious signals. One approach to overcome stratification is to use a family-based design. For rare variants, this strategy is especially appropriate, as power can be increased considerably by analyzing cases with affected relatives. We propose a novel framework for association testing in affected sibpairs by comparing the allele count of rare variants on chromosome regions shared identical by descent to the a

SUBMITTER: Lin KH 

PROVIDER: S-EPMC4469535 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature