Integration of knowledge for personalized medicine: a pharmacogenomics case-study

The semantic integration of pharmacogenomic knowledge that is currently distributed in several resources extends the access to information that is crucial for new scientific analyses that bridge multiple resources and domains. We demonstrate how to combine formal ontological analysis and Semantic Web technology to integrate three major pharmacogenomics databases and link the combined resource to chemical and disease ontologies. We show how the additional background knowledge in these ontologies can be used to perform expressive queries in the domain of pharmacogenomics that specifically leverage the collection of formalized ontologies and enable access to knowledge that is not available in either database alone.