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.
- Introduction to Phenopackets
- Top-Level Elements
- Phenopacket building blocks
- Working with Phenopackets