基因组信息学.表型数据包:表型数据交换格式

[中文适用范围]： 本文件规定了在罕见疾病、常见/复杂疾病或癌症背景下对个体、患者或样本的统一的、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。 虽然旨在用于人类数据收集，但它也可以用于其他领域（例如小鼠研究）。 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，从而允许其在系统之间进行计算交换。 [外文原描述]： 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.