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Quality control metrics for DNA sequencing

Quality control metrics for DNA sequencing
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  • FHIR STU3
  • Scope Test KR
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The rapid progress in NGS technology has drastically reduced the cost and time for genomic analysis. A number of research institutions, corporates, and government agencies are competitively collecting a large volume of genomic data through multi-national, multi-institutional projects such as “DiscovEHR”, “gnomAD”, “UK Biobank”, etc. The demand for sharing of “high quality” genomic data is growing because large-scale reference data is required for reliable detection of mutation for both industrial and clinical applications. However, the current state of quality of available genomic data is far less than desirable because they are not being properly quality controlled since not enough details of each stage of NGS process, namely sample preparation, library preparation, sequencing, and data processing, are recorded and shared. In this project, we define and standardize data items necessary for clinical purpose so that they can be interoperably used by researchers, commercial entities, and regulatory bodies for the purpose of selective utilization of the data by setting application-specific quality criteria. This project provides a basis for sharing and application of “high quality” genomic data and contributes in the realization of the PM and the development of relevant industries.

avatar Donghyeong Seong
owner  Admin