Rare variant association studies: considerations, challenges and opportunities.

ABSTRACT: Genome-wide association studies (GWASs) have successfully uncovered thousands of robust associations between common variants and complex traits and diseases. Despite these successes, much of the heritability of these traits remains unexplained. Because low-frequency and rare variants are not tagged by conventional genome-wide genotyping arrays, they may represent an important and understudied component of complex trait genetics. In contrast to common variant GWASs, there are many different types of study designs, assays and analytic techniques that can be utilized for rare variant association studies (RVASs). In this review, we briefly present the different technologies available to identify rare genetic variants, including novel exome arrays. We also compare the different study designs fo

SUBMITTER: Auer PL 

PROVIDER: S-EPMC4337325 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature