POCUS: mining genomic sequence annotation to predict disease genes

Open Access

10 October 2003

journal article
method
Published by Springer Nature in Genome Biology

Vol. 4 (11) , R75
https://doi.org/10.1186/gb-2003-4-11-r75

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.

Keywords

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