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
- governedBy: GA4GH
- implements: HPO
- relatedTo: VCF (variant information in a Phenopacket can be represented using VCF notation)
- implements: VRS
- relatedTo: HL7 FHIR (published FHIR implementation guide defines how Phenopackets can be expressed as FHIR resources)
- recommendedBy: 1+MG Framework (required for the rare disease use case within the 1+MG initiative)