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
Referenced in API Evangelist papers
This standard shows up in my published research. These reports read the machine-readable evidence provider by provider — and put this standard in the context of a real sector.
The State of Biotechnology APIs
An ISO-standardized genomic phenotype exchange format named by exactly 1 of 999 biotechnology companies.
