PhenopacketsΒΆ

Phenopackets is a well established GA4GH schema for capturing and exchanging structured phenotypic data to support comon research and clinical workflows. In order to achieve the goals of this project, the current Phenopackets model will be examined, including the underlying domain it represents and how technical data is representated, which will enable a rigorous comparison to the FHIR standard. Careful analysis of those two specifications, with specific consideration of their semantic models and data representations, will identify new areas of development. We anticipate that the outcome of this process will be the enhancement of both standards through the delivery of technical guidance and tools to support data integration and interoperability.

The Phenopackets project describes it as:

The Phenopacket Schema represents an open standard for sharing disease and phenotype information to improve our ability to understand, diagnose, and treat both rare and common diseases. A Phenopacket links detailed phenotype descriptions with disease, patient, and genetic information, enabling clinicians, biologists, and disease and drug researchers to build more complete models of disease (see Disease for the distinction between disease and phenotypic feature). The standard is designed to encourage wide adoption and synergy between the people, organizations and systems that comprise the joint effort to address human disease and biological understanding.