Essential Elements for Establishing Clinical Next-generation Sequencing Testing

Author: Kyoung Jin PARK ¹ ; Woochang LEE ; Sail CHUN ; Won Ki MIN
Author Information

1. Department of Laboratory Medicine and Biomedical Research Institute, Pusan National University Yangsan Hospital, Yangsan, Korea.
Publication Type:Review
Keywords: Next-generation sequencing (NGS); Quality control (QC); Reference material (RM)
MeSH: Clinical Medicine; Genomics
From:Laboratory Medicine Online 2019;9(2):37-44
CountryRepublic of Korea
Language:English
Abstract: Over the past decade, next-generation sequencing (NGS) has evolved at an astonishing pace and has revolutionized clinical medicine as well as genomics research. The rapid advancements in NGS technologies have been accompanied by accumulating evidence of the analytical and clinical validity, and clinical utility of NGS. NGS is used worldwide. This review provides medical technicians and laboratory physicians with the essential elements for establishing clinical NGS testing. Here the authors briefly describe the advantages and drawbacks of currently available NGS platforms, potential sources of error in NGS workflow, and reference materials.