Welcome to the documentation for phenopackets-schema!

The goal of the phenopacket-schema is to define the phenotypic description of a patient/sample in the context of rare disease, common/complex disease, or cancer. The schema as well as source code in Java, C++, and Python is available from the phenopacket-schema GitHub repository.

Version 1 of phenopackets was approved by GA4GH in October, 2019. Based on initial experiences and feedback from multiple sources, and discussions in the GA4GH Clin/Pheno Workstream and Phenopackets Subgroups, version 1 has been extended to include better representation of the time course of disease, treatment, and cancer-related data. The current document refers to the version 2 of the Phenopackets schema. Version 2 is currently being finalized by the Global Alliance for Genomics and Health (GA4GH) Clinical & Phenotypic Data Capture workstream.

To see the documentation for version 1, which was approved by GA4GH in 2019, use this link.