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
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.
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