Genomics informatics — Phenopackets: A format for phenotypic data exchange

This standard specifies a uniform, machine-readable, phenotypic description of an individual, patient or sample in the context of rare disease, common/complex disease or cancer. It applies to academic, clinical and commercial research, as well as clinical diagnostics. Although intended for human data collection, the standard can be used in other areas (for example, mouse research). It does not define the phenotypic information that needs to be collected for a particular use but represents that information in an appropriately descriptive manner that allows it to be computationally exchanged between systems.

Main sections:

· Scope

· Normative references

· Terms and definitions

· Abbreviated terms

· Phenopackets schema and requirements

· Phenopacket schema top-level elements

· Phenopackets building blocks

· Annex A: Working with phenopackets

· Annex B: Ontologies

· Annex C: Rare disease example

· Annex D: Cancer example

· Annex E: COVID-19 example