standards > terminology artifact > DOI:10.25504/FAIRsharing.tqacb9

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ready Scientific Evidence Based Genetic Testing Ontology

Abbreviation: IGTO

General Information
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 Protégé. 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.


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Created in 2015

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How to cite this record IGTO; Scientific Evidence Based Genetic Testing Ontology; DOI:; Last edited: Jan. 8, 2019, 1:38 p.m.; Last accessed: Feb 28 2021 1:08 p.m.

Record added: Oct. 24, 2017, 9:41 a.m.
Record updated: Jan. 8, 2019, 1:38 p.m.


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