Examining the statistical properties of fine-scale mapping in large-scale association studies.

ABSTRACT: Interpretation of dense single nucleotide polymorphism (SNP) follow-up of genome-wide association or linkage scan signals can be facilitated by establishing expectation for the behaviour of primary mapping signals upon fine-mapping, under both null and alternative hypotheses. We examined the inferences that can be made regarding the posterior probability of a real genetic effect and considered different disease-mapping strategies and prior probabilities of association. We investigated the impact of the extent of linkage disequilibrium between the disease SNP and the primary analysis signal and the extent to which the disease gene can be physically localised under these scenarios. We found that large increases in significance (>2 orders of magnitude) appear in the exclusive domain of genuin

SUBMITTER: Wiltshire S 

PROVIDER: S-EPMC3076696 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature