Test Categories

Clinical Categories

The majority of tests in GTR are labeled with clinical categories at the top of the test information page, below the test name.

The goal of test category labels is to give the user a bird's eye view of the broad groups of diseases or conditions for which a test is indicated. To create clinical test categories, first, disease categories are automatically calculated based on the disease subclasses in Mondo (Mondo Disease Ontology, Monarch Initiative) and HPO (Human Phenotype Ontology) ontologies, under which the conditions are classified. If a disease has an OMIM (Online Mendelian Inheritance in Man) identifier only or is of the type ‘Pharmacological response’, it will be categorized as 'Inherited disease' or 'Pharmacogenomic' respectively. The disease categories are then aggregated and scored for each test based on the conditions indicated in the test. The scored test categories are then ranked and displayed in order of relevance. The first category listed is the top scoring category for the test, the second category is the next best match, and so on.