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

ABSTRACT:

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 becomes a comprehensive resource for computational analysis of human disease phenotypes. Most of the existing HPO-based software tools cannot be used offline and provide only few similarity measures. Therefore, there is a critical need for developing a comprehensive and offline software for phenotypic features similarity based on HPO.

Results

HPOSim is an R package for an

SUBMITTER: Deng Y 

PROVIDER: S-EPMC4321842 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature