Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

Abstract excerpt

The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Computational Biology
• Share to Disease
• Share to Genetic Loci