PHONT Profile

PGRN Ontology Network Resource

Abstract (Updated April 2011)

Pharmacogenomics is a multidisciplinary science; it also has become a data-intensive science. As such, it requires increasingly clear annotation and representation of phenotype (disease, adverse event, or clinical and physiological outcomes) to support data integration and cross-database analyses. Indeed, the consistent and interpretable characterization of drug-related phenotypes, including treatment response, adverse events, and clinical outcomes, has become the rate-limiting factor in large-scale pharmacogenomics research. The overarching aim of our PGRN Ontology Network Resource is to enable codification of standardized phenotype definitions and relationships, in coordination with other established government-funded efforts. Because the standardized representation of phenotypes depends on standards, our first two aims focus on making vocabularies and ontologies (computationally formal vocabularies) about clinical and physiologic concepts accessible and usable to the PGRN community. While necessary, such terminological resources are pedantic absent methods and machinery to integrate them into practical phenotypes. Additionally, we will foster the creation of pharmacogenomically relevant value sets, drawn from standards-based terminologies that satisfy relevant domain-specific requirements, such as anatomy, drug names, or gene names. Finally, as a PGRN resource, we will support outreach to the PGRN members and the larger pharmacogenomics community seeking to establish standard phenotypes, structured in a way that these pharmacogenomically relevant phenotypes conform to community and government standards, provide grounding for extension to related conditions, and serve as examples for the broader science community. We anticipate that this resource will enable consistent and comparable large-scale phenotyping for pharmacogenomics.

Team Members