Similarity-based search of model organism, disease and drug effect phenotypes

R. Hoehndorf, M. Gruenberger, G.V. Gkoutos, P.N. Schofield
Journal of Biomedical Semantics, 6:6, (2015)

Similarity-based search of model organism, disease and drug effect phenotypes

Keywords

Phenotype, Semantic similarity, Ontology

Abstract

Background

Semantic similarity measures over phenotype ontologies have been demonstrated to provide a powerful approach for the analysis of model organism phenotypes, the discovery of animal models of human disease, novel pathways, gene functions, druggable therapeutic targets, and determination of pathogenicity.

Results

We have developed PhenomeNET 2, a system that enables similarity-based searches over a large repository of phenotypes in real-time. It can be used to identify strains of model organisms that are phenotypically similar to human patients, diseases that are phenotypically similar to model organism phenotypes, or drug effect profiles that are similar to the phenotypes observed in a patient or model organism. PhenomeNET 2 is available at http://​aber-owl.​net/​phenomenet.

Conclusions

Phenotype-similarity searches can provide a powerful tool for the discovery and investigation of molecular mechanisms underlying an observed phenotypic manifestation. PhenomeNET 2 facilitates user-defined similarity searches and allows researchers to analyze their data within a large repository of human, mouse and rat phenotypes.

Code

DOI: 10.1186/s13326-015-0001-9

Sources

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