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1: Genome Biol. 2003;4(11):R75. Epub 2003 Oct 10.
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POCUS: mining genomic sequence annotation to predict disease genes.

Turner FS, Clutterbuck DR, Semple CA.

MRC Human Genetics Unit, Crewe Road, Western General Hospital, Edinburgh EH4 2XU, UK.

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.

Publication Types:
PMID: 14611661 [PubMed - indexed for MEDLINE]

PMCID: PMC329128