POCUS: mining genomic sequence annotation to predict disease genes

被引：161

作者：

Turner, FS ^{[1
]}

Clutterbuck, DR ^{[1
]}

Semple, CAM ^{[1
]}

机构：

[1] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

GENOME BIOLOGY | 2003年 / 4卷 / 11期

关键词：

D O I：

10.1186/gb-2003-4-11-r75

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

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页数：9

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