FAIRsharing record for: Scientific Evidence Based Genetic Testing Ontology

This FAIRsharing record describes: The ontology introduced a novel integrative genetic testing resource called Genetic Testing Ontology (GTO). More specifically,GTO integrated multiple well-known genetic testing resources, including Genetic Testing Registry (GTR), ClinVar, and Human Phenotype Ontology (HPO) in Web Ontology Language (OWL). A meta-ontology has been designed to capture semantics and associations based on the nature of the selected data via Prot?g?. The GTO was built on top of the meta-ontology subsequently by populating specific genetic testing data. In addition, literature data from Semantic MEDLINE (SM) has been extracted and integrated in the GTO to provide scientific evidence accordingly.