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ISO - 4454

Genomics informatics — Phenopackets: A format for phenotypic data exchange

active, Most Current
Organization: ISO
Publication Date: 1 July 2022
Status: active
Page Count: 98
ICS Code (IT applications in health care technology): 35.240.80
scope:

This document 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 is applicable to academic, clinical and commercial research, as well as clinical diagnostics. While intended for human data collection, it can be used in other areas (e.g. 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.

Document History

4454
July 1, 2022
Genomics informatics — Phenopackets: A format for phenotypic data exchange
This document 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 is applicable to...

References

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