Development and clinical applications of an enclosed automated targeted NGS library preparation system
Issued Date
2023-02-01
Resource Type
ISSN
00098981
eISSN
18733492
Scopus ID
2-s2.0-85146471541
Pubmed ID
36627008
Journal Title
Clinica Chimica Acta
Volume
540
Rights Holder(s)
SCOPUS
Bibliographic Citation
Clinica Chimica Acta Vol.540 (2023)
Suggested Citation
Shi C., Feng Y., Sun R., Chen J., Zhao Y., Wang Z., Xie S., Zhou J., Yang L., Cao X., Feng J., Zhang C., Wei B., Wang X., Chang Y., Zhao J., Wang Z., Zheng J., Liu J., Chantratita W., Xiong L., Zhang D., Chen C., Ma J. Development and clinical applications of an enclosed automated targeted NGS library preparation system. Clinica Chimica Acta Vol.540 (2023). doi:10.1016/j.cca.2023.117224 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/81672
Title
Development and clinical applications of an enclosed automated targeted NGS library preparation system
Other Contributor(s)
Abstract
The rapid development of next-generation sequencing (NGS) technology has promoted its wide clinical application in precision medicine for oncology. However, laborious and time-consuming manual operations, highly skilled personnel requirements, and cross-contamination are major challenges for the clinical implementation of NGS technology-based tests. The Automated NGS Diagnostic Solutions (ANDiS) 500 system is a fully enclosed cassette-dependent automated NGS library preparation system. This platform could produce qualified targeted amplicon library in three steps with only 15 min of hands-on time. Rigorous cross-contamination test using simulated contaminant plasmids confirmed that the design of disposable cassette guarantees zero sample cross-contamination. The BRCA1 and BRCA2 mutation detection panel and gastrointestinal cancer-related gene analysis panel for the ANDiS 500 platform showed 100% accuracy and precision in detecting germ-line mutations and somatic mutations respectively. Furthermore, those panels showed 100% concordance with verified methods in a prospective cohort study enrolling 363 patients and a cohort of 45 pan-cancer samples. In conclusion, the ANDiS 500 automated platform could overcome major challenges for implementing NGS assays clinically and is eligible for routine clinical tests.