POCUS: mining genomic sequence annotation to predict disease genes.
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ABSTRACT:
SUBMITTER: Turner FS
PROVIDER: S-EPMC329128 | biostudies-literature | 2003
REPOSITORIES: biostudies-literature
Publications
POCUS: mining genomic sequence annotation to predict disease genes.
Turner Frances S FS Clutterbuck Daniel R DR Semple Colin A M CA
Genome biology 20031010 11
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 counteri ...[more]
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