ONTOFUSION: Ontology-based integration of genomic and clinical databases

ONTOFUSION is an ontology-based system designed for biomedical database integration. It is based on two processes: mapping and unification. Mapping is a semi-automated process that uses ontologies to link a database schema with a conceptual framework—named virtual schema. There are three methodologies for creating virtual schemas, according to the origin of the domain ontology used: (1) top-down—e.g. using an existing ontology, such as the UMLS or Gene Ontology—, (2) bottom-up—building a new domain ontology— and (3) a hybrid combination. Unification is an automated process for integrating ontologies and hence the database to which they are linked. Using these methods, we employed ONTOFUSION to integrate a large number of public genomic and clinical databases, as well as biomedical ontologies.