标准编号：ISO 4454:2022
中文名称：基因组信息学 表型数据包：表型数据交换格式
英文名称：Genomics informatics — Phenopackets: A format for phenotypic data exchange
发布日期：2022-07
标准范围
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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