ISO 4454:2022

Genomics informatics — Phenopackets: A format for phenotypic data exchange

Publication date:   Jul 7, 2022

General information

60.60 Standard published   Jul 7, 2022

ISO

ISO/TC 215/SC 1 Genomics Informatics

International Standard

35.240.80   IT applications in health care technology

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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.

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PUBLISHED
ISO 4454:2022
60.60 Standard published
Jul 7, 2022