DOSE: an R/Bioconductor package for disease ontology semantic and enrichment analysis

• DOI: 10.1093/bioinformatics/btu684
• Publication Date: 2014-10-18T02:34:38Z
• Authors: Guangchuang Yu; Li-Gen Wang; Guang-Rong Yan; Qing-Yu He
• Keywords: Bioconductor; Gene Annotation; Relevance

Summary: Disease ontology (DO) annotates human genes in the context of disease. DO is important annotation translating molecular findings from high-throughput data to clinical relevance. DOSE an R package providing semantic similarity computations among terms and which allows biologists explore similarities diseases gene functions disease perspective. Enrichment analyses including hypergeometric model set enrichment analysis are also implemented support discovering associations biological data. This verify relevance a experiment identify unexpected associations. Comparison clusters supported. Availability implementation: released under Artistic-2.0 License. The source code documents freely available through Bioconductor (http://www.bioconductor.org/packages/release/bioc/html/DOSE.html). Supplementary information: Data at Bioinformatics online. Contact: [e-mail] or [e-mail]