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DSF/ISO/DIS 4454

Genomics informatics – Phenopackets: A format for phenotypic data exchange

pending, Most Current
Organization: DS
Status: pending
Page Count: 93
ICS Code (IT applications in health care technology): 35.240.80
scope:

This International 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. Its use is applicable to research, clinical as well as commercial settings. While intended for human data collection, it can be used in other areas (e.g. mouse research) as required. 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

DSF/ISO/DIS 4454
Genomics informatics – Phenopackets: A format for phenotypic data exchange
This International 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. Its...
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