Clinical application and quality management of next-generation sequencing technology
10.3760/cma.j.cn114452-20220722-00429
- VernacularTitle:高通量测序技术的临床应用及质量管理
- Author:
Yun BAO
1
;
Yanqun XIAO
;
Hualiang WANG
Author Information
1. 上海市临床检验中心上海市实验医学研究院，上海 200126
- Keywords:
Next generation sequencing;
Clinical application;
Auality management
- From:
Chinese Journal of Laboratory Medicine
2022;45(11):1099-1103
- CountryChina
- Language:Chinese
-
Abstract:
With the rapid development of sequencing technology and bioinformatics analysis, the application of high-throughput sequencing (NGS) technology in precision medicine has been deepening, mainly in genetic disease diagnosis, tumor gene detection and concomitant diagnosis, as well as infectious disease detection. Compared with the traditional clinical tests, NGS analysis are more complicated with tedious operation steps and complex workflow, and they have high requirements for data analysis and variant interpretation. NGS approaches were reviewed in clinical diagnosis for constitutional disorders, cancer, infectious diseases as well as current issues in these clinical applications. Finally some suggestions for the quality management of laboratories were discussed.
