ISO/TS 22693:2021 基因组信息学 电子健康记录中的结构化临床基因融合报告

标准编号：ISO/TS 22693:2021

中文名称：基因组信息学 电子健康记录中的结构化临床基因融合报告

英文名称：Genomics informatics — Structured clinical gene fusion report in electronic health records

发布日期：2021-06

标准范围

该文件定义了数据元素及其必要的元数据，以实现结构化临床基因融合报告，该报告的数据由下一代测序技术生成。这份文件-？描述了RNA测序方法的报告指南，重点是检测新的和已知的融合伙伴，-？定义结构化临床基因融合报告所需的数据字段及其元数据，-？定义可选数据字段及其元数据，-？涵盖了使用下一代测序技术进行的全转录组测序的人类样本融合基因，用于临床实践和翻译研究，-？不包括使用DNA测序方法检测融合基因，-？不包括基础研究和其他科学领域，-？不包括其他生物物种，-？不包括Sanger测序方法，以及-？不包括其他结构变化。本文件仅定义了电子健康记录中结构化临床测序报告的数据元素及其元数据。因此，如果所有元素都包含在本文件中，则其布局可以根据机构决策进行设计。

The document defines the data elements and their necessary metadata to implement a structured clinical gene fusion report whose data are generated by next generation sequencing technologies.This document—    describes the reporting guideline for RNA sequencing approaches focusing on detecting novel and known fusion partners,—    defines the required data fields and their metadata for a structured clinical gene fusion report,—    defines the optional data fields and their metadata,—    covers the fusion gene from human specimen using whole transcriptome sequencing by next generation sequencing technologies for clinical practice and translational research,—    does not cover the fusion gene detection using DNA sequencing methods,—    does not cover the basic research and other scientific areas,—    does not cover the other biological species,—    does not cover the Sanger sequencing methods, and—    does not cover the other structural variations.This document only defines the data elements and their metadata for the structured clinical sequencing report in electronic health records. Therefore, its layout can be designed based on the institutional decision if all elements are included as in this document.

标准预览图