Ontologizing the EHR

Value and Vision

Phenotyping is the foundation of precision medicine, but it is challenging because information is distributed in many EHR locations and there is a lack of interoperability across sites. This project will extract detailed patient phenotypic profiles and encode them using the Human Phenotype Ontology (HPO) and other ontologies and vocabularies. The transformed data provides a foundation for conducting phenotype-based translational research including biomarker discovery, differential diagnosis, and disease stratification. We are extending our approach to larger datasets across multiple CTSA sites to look for biomarkers and conditional markers. The library will develop into a tool for phenotype-based stratification algorithms across multiple hubs.

How to get Involved

Try the demo; analyze your cohort (i2b2,FHIR,PCORNET, ACT; etc.); contribute requirements and use cases. Signal your interest at cd2h.org/onboard