This ontology is used to model scientific investigation, especially Genome-Wide Association Studies (GWAS), to discover genetic susceptibility factors to disease, such as Diabetes. It models the genetic variants, polymorphisms, statistical measurement, populations and other elements that are essential to determine a genetic susceptibility factor in GWAS study. It must be used with other two ontologies, in the case of Diabetes: Ontology of Geographical Region (OGR) and Ontology of Glucose Metabolism (OGMD). Together, these three ontologies form the Ontology for Genetic Susceptibility Factor (OGSF), which is the project where information about this ontology is stored.
assay diabetes mellitus polymorphism genome genome-wide association study sequence variant