This document identifies quality metrics for the detection of DNA variants using next generation sequencing (NGS) technology. It also defines the data types, relationships, optionality, cardinalities and terminology bindings of the data.
This document provides a basis for sharing and for the application of "high quality" genomic data and contributes to the realization of the precision medicine and the development of relevant industries.
This document is intended to serve as a catalogue of sequencing data elements used to address quality metrics for various clinical, industrial and commercial applications. The exchange of these data allows researchers, commercial entities, and regulatory bodies to assess for the purpose of selective utilization of the data by setting application-specific quality criteria
This document is not intended for
— sequencing methods other than NGS, such as the Sanger sequencing,
— targets other than genome, such as transcriptome or proteome, or
— specimens of species other than humans.
État actuel: PubliéeDate de publication: 2020-10
Comité technique: ISO/TC 215/SC 1 Informatique génomique
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