POCUS: mining genomic sequence annotation to predict disease genes.

ABSTRACT: Here we present POCUS (prioritization of candidate genes using statistics), a novel computational approach to prioritize candidate disease genes that is based on over-representation of functional annotation between loci for the same disease. We show that POCUS can provide high (up to 81-fold) enrichment of real disease genes in the candidate-gene shortlists it produces compared with the original large sets of positional candidates. In contrast to existing methods, POCUS can also suggest counterintuitive candidates.

SUBMITTER: Turner FS 

PROVIDER: S-EPMC329128 | biostudies-literature | 2003

REPOSITORIES: biostudies-literature