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Article

HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.

PloS one - 1 Jan 2015

Deng Yue, Gao Lin, Wang Bingbo, Guo Xingli

Abstract excerpt

BACKGROUND: Phenotypic features associated with genes and diseases play an important role in disease-related studies and most of the available methods focus solely on the Online Mendelian Inheritance in Man (OMIM) database without considering the controlled vocabulary. The Human Phenotype Ontology (HPO) provides a standardized and controlled vocabulary covering phenotypic abnormalities in human diseases, and...

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PMID: 25664462
DOI: 10.1371/journal.pone.0115692
PMCID: PMC4321842

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