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Genome Biol. 2003;4(11):R75. Epub 2003 Oct 10.

POCUS: mining genomic sequence annotation to predict disease genes.

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  • 1MRC 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.

[PubMed - indexed for MEDLINE]
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