Journal
BIOINFORMATICS
Volume 31, Issue 4, Pages 608-609Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btu684
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Funding
- National Natural Science Foundation of China [21271086]
- Fundamental Research Funds for the Central Universities [21613414]
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Disease ontology (DO) annotates human genes in the context of disease. DO is important annotation in translating molecular findings from high-throughput data to clinical relevance. DOSE is an R package providing semantic similarity computations among DO terms and genes which allows biologists to explore the similarities of diseases and of gene functions in disease perspective. Enrichment analyses including hypergeometric model and gene set enrichment analysis are also implemented to support discovering disease associations of high-throughput biological data. This allows biologists to verify disease relevance in a biological experiment and identify unexpected disease associations. Comparison among gene clusters is also supported.
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