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Standards Development
This standard identifies quality metrics for the detection of DNA variants using next generation sequencing (NGS) technology. For the legitimacy of NGS based applications, it is necessary to review the metrics of the whole data production process. This includes the quality-related data for the entire process of the NGS of DNA of all human-originated specimens, including sample preparation, library preparation, sequencing, and data processing. It also defines the data types, relationships, optionality, cardinalities and terminology bindings of the data. In summary, this standard is intended to serve as a catalogue of sequencing data elements necessary to address quality metrics for various clinical, industrial and commercial applications.
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; and
— Specimens of species other than human.
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