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Three-Year Experience of an External ProficiencyTesting Survey for Next-Generation Sequencing-Based Testing for Germline Mutation
Article | WPRIM | ID: wpr-836056
Responsible library: WPRO
ABSTRACT
Background@#Next-generation sequencing is a powerful technology thatallows simultaneous analysis of several genes but also demands a welldesignedquality management system owing to its complexity. We aimed toanalyze the results of next-generation sequencing (NGS)-germline proficiencytesting (PT) survey performed by the Korean Association of External QualityAssessment Service during 2017–2019 to assess the current status of theNGS-based genetic testing in Korea. @*Methods@#The recent 3-year results from the PT survey were investigated.During this period, PT survey was performed twice every year with two orthree challenges per round. Correct results (%) were calculated from alltested regions; the trend by year and variation type was analyzed and theprobable causes estimated. @*Results@#During this period, the number of participating laboratoriesincreased from 5 to 22. The correct results were 97.2% in average andshowed a gradual increase with year. The most common ‘unacceptable’results were false-negative or false-positive, followed by inappropriatenomenclature and zygosity assignment. @*Conclusions@#The PT survey shows that the overall performance of NGSlaboratories in Korea is highly confident, although some improvements maybe needed. A method-based PT survey for the NGS test serves as a usefulapproach to assess the performance of NGS laboratories.
Full text: Available Index: WPRIM (Western Pacific) Journal: Journal of Laboratory Medicine and Quality Assurance Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Journal: Journal of Laboratory Medicine and Quality Assurance Year: 2020 Type: Article