Phenopackets Tutorials
Learn how to create and work with phenopackets step by step
Tutorials
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Introduction to Phenopackets
Learn what Phenopackets are and why they matter
5 min read
What are Phenopackets?
Phenopackets are a standard for sharing disease and phenotype information to improve diagnostic accuracy, translational research, and treatment of disease.
Key Points
- Phenopackets use standardized ontologies (HPO, MONDO, etc.)
- They enable interoperability between different healthcare systems
- Built on open standards like JSON for easy integration
- Designed for rare disease diagnosis and research
A phenopacket contains structured information about a patient's symptoms, diseases, genetic variants, and more.