Phenopackets is a GA4GH schema for exchanging phenotypic and clinical descriptions of an individual alongside genomic findings, standardized as ISO 4454. It gives rare-disease diagnosis and genomic interpretation a portable unit of meaning, carrying ontology-coded phenotypes, disease assertions, and the provenance of each observation.
Phenopackets
Industry: Life Sciences
Also in the data model catalog
This standard shows up on both sides of the house — as a standard applied in API operations here, and as a data model defining what information exists. Same standard, two lenses.
See it as a data model →