PhenomeNET: a whole-phenome approach to disease gene discovery.

ABSTRACT: Phenotypes are investigated in model organisms to understand and reveal the molecular mechanisms underlying disease. Phenotype ontologies were developed to capture and compare phenotypes within the context of a single species. Recently, these ontologies were augmented with formal class definitions that may be utilized to integrate phenotypic data and enable the direct comparison of phenotypes between different species. We have developed a method to transform phenotype ontologies into a formal representation, combine phenotype ontologies with anatomy ontologies, and apply a measure of semantic similarity to construct the PhenomeNET cross-species phenotype network. We demonstrate that PhenomeNET can identify orthologous genes, genes involved in the same pathway and gene-disease associations

SUBMITTER: Hoehndorf R 

PROVIDER: S-EPMC3185433 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature