ISO/TS 4424:2023 基因组学信息 描述临床大规模平行DNA测序的肿瘤突变负荷（TMB）信息的数据元素及其元数据

标准编号：ISO/TS 4424:2023

中文名称：基因组学信息 描述临床大规模平行DNA测序的肿瘤突变负荷（TMB）信息的数据元素及其元数据

英文名称：Genomics informatics — Data elements and their metadata for describing the tumor mutation burden (TMB) information of clinical massive parallel DNA sequencing

发布日期：2023-12

标准范围

当使用临床大规模平行DNA测序报告生物标志物的值时，本文件确定了数据元素和元数据，以表示关于肿瘤突变负荷（TMB）的信息。本文件涵盖了TMB状态和相关元数据，如突变类型、测序类型和用于临床实践和研究的人类样本测序的目标区域。本文件并非旨在—？定义用于计算肿瘤突变负荷值的实验方案或方法，—？对于其他生物物种，以及—？桑格测序方法。

This document identifies data elements and metadata to represent the information about tumor mutation burden (TMB) when reporting the value for the biomarker using clinical massive parallel DNA sequencing.

This document covers the TMB status and related metadata such as mutation type, sequencing types, and target areas of sequencing from human samples for clinical practice and research.

This document is not intended

—     to define experimental protocols or methods for calculating the value of tumor mutation burden,

—     for the other biological species, and

—     for the Sanger sequencing methods.

标准预览图