POCUS: mining genomic sequence annotation to predict disease genes

Frances S Turner, Daniel R Clutterbuck, Colin A M Semple

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)R75
JournalGenome Biology
Issue number11
Publication statusPublished - 2003


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