Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.

ABSTRACT: In recent years, genome-wide association studies have been very successful in identifying loci for complex traits. However, typically these findings involve noncoding and/or intergenic SNPs without a clear functional effect that do not directly point to a gene. Hence, the challenge is to identify the causal variant responsible for the association signal. Typically, the first step is to identify all genetic variation in the locus region, usually by resequencing a large number of case chromosomes. Among all variants, the causal one needs to be identified in further functional studies. Because the experimental follow up can be very laborious, restricting the number of variants to be scrutinized can yield a great advantage. An objective method for choosing the size of the region to be followed

SUBMITTER: Bochdanovits Z 

PROVIDER: S-EPMC3895635 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature