ISO/TS 4424:2023

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

Апстракт

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.