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An unbiased evaluation of gene prioritization tools

by: Daniela Börnigen, Léon-Charles Tranchevent, Francisco Bonachela-Capdevila, Koenraad Devriendt, Bart De Moor, Patrick De Causmaecker, Yves Moreau
Bioinformatics, Vol. 28, No. 23. (01 December 2012), pp. 3081-3088, doi:10.1093/bioinformatics/bts581  Key: citeulike:11428511

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Abstract

Motivation: Gene prioritization aims at identifying the most promising candidate genes among a large pool of candidates—so as to maximize the yield and biological relevance of further downstream validation experiments and functional studies. During the past few years, several gene prioritization tools have been defined, and some of them have been implemented and made available through freely available web tools. In this study, we aim at comparing the predictive performance of eight publicly available prioritization tools on novel data. We have performed an analysis in which 42 recently reported disease-gene associations from literature are used to benchmark these tools before the underlying databases are updated.


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