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ISO 4454:2022

Genomics informatics — Phenopackets: A format for phenotypic data exchange

General information
Valid from 07.07.2022
Directives or regulations
None
Standard history
Status
Date
Type
Name
07.07.2022
Main
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.
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