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现行 ISO/TS 22692:2020
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Genomics informatics— Quality control metrics for DNA sequencing 基因组学信息学.DNA测序的质量控制度量
发布日期: 2020-10-05
本文件确定了使用下一代测序(NGS)技术检测DNA变体的质量指标。它还定义了数据的数据类型、关系、可选性、基数和术语绑定。 本文件为“高质量”基因组数据的共享和应用提供了基础,有助于实现精准医学和相关产业的发展。 本文件旨在作为测序数据元素的目录,用于处理各种临床、工业和商业应用的质量指标。这些数据的交换允许研究人员、商业实体和监管机构通过设置应用程序来评估数据的选择性利用- 具体质量标准 本文件不适用于 -NGS以外的测序方法,如Sanger测序, -基因组以外的靶点,如转录组或蛋白质组,或 -人类以外物种的标本。
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.
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归口单位: ISO/TC 215/SC 1
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