Phenopackets — GA4GH Phenopacket Schema
Overview
The GA4GH Phenopacket Schema is a community standard for the computable exchange of clinical and phenotypic data linked to genomic information. It captures a patient’s phenotypic features using HPO terms, diagnoses, biosample data, genomic variants via VCF or VRS, medical actions, and pedigree information in a single structured package. It supports rare disease, complex disease, and cancer use cases, and is interoperable with HL7 FHIR via a published implementation guide.
Connections
- Governed by: GA4GH (Clinical and Phenotypic Data Capture Work Stream)
- ISO standard: ISO/TS 5435 (2022)
- Uses: HPO, VCF, VRS
- Implements: HL7 FHIR (published FHIR implementation guide)