1 Scope
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
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— sequencing methods other than NGS, such as the Sanger sequencing,
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— targets other than genome, such as transcriptome or proteome, or
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— specimens of species other than humans.