ISO 4454:2022 基因组信息学 表型数据包：表型数据交换格式

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

本文件规定了罕见疾病、常见/复杂疾病或癌症背景下个人、患者或样本的统一、机器可读的表型描述。它适用于学术、临床和商业研究以及临床诊断。虽然用于人类数据收集，但它可以用于其他领域（例如老鼠研究）。它没有定义需要为特定用途收集的表型信息，而是以适当的描述性方式表示该信息，允许在系统之间进行计算交换。

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.

标准预览图