Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases.

ABSTRACT: Despite considerable progress in understanding the molecular origins of hereditary human diseases, the molecular basis of several thousand genetic diseases still remains unknown. High-throughput phenotype studies are underway to systematically assess the phenotype outcome of targeted mutations in model organisms. Thus, comparing the similarity between experimentally identified phenotypes and the phenotypes associated with human diseases can be used to suggest causal genes underlying a disease. In this manuscript, we present a method for disease gene prioritization based on comparing phenotypes of mouse models with those of human diseases. For this purpose, either human disease phenotypes are "translated" into a mouse-based representation (using the Mammalian Phenotype Ontology), or mouse p

SUBMITTER: Oellrich A 

PROVIDER: S-EPMC3375301 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature