基因组
临床微生物学
工作流程
多路复用
传染病(医学专业)
DNA测序
生物
计算生物学
生物技术
医学
生物信息学
疾病
计算机科学
内科学
基因
微生物学
数据库
生物化学
作者
Qiuyue Chen,Jie Yi,Yiwei Liu,Chengxian Yang,Yujie Sun,Juan Du,Yi Liu,Dejian Gu,Hao Liu,Yingchun Xu,Yu Chen
出处
期刊:Molecular Medicine Reports
[Spandidos Publications]
日期:2024-07-02
卷期号:30 (3)
标识
DOI:10.3892/mmr.2024.13277
摘要
As sequencing technology transitions from research to clinical settings, due to technological maturity and cost reductions, metagenomic next‑generation sequencing (mNGS) is increasingly used. This shift underscores the growing need for more cost‑effective and universally accessible sequencing assays to improve patient care and public health. Therefore, targeted NGS (tNGS) is gaining prominence. tNGS involves enrichment of target pathogens in patient samples based on multiplex PCR amplification or probe capture with excellent sensitivity. It is increasingly used in clinical diagnostics due to its practicality and efficiency. The present review compares the principles of different enrichment methods. The high positivity rate of tNGS in the detection of pathogens was found in respiratory samples with specific instances. tNGS maintains high sensitivity (70.8‑95.0%) in samples with low pathogen loads, including blood and cerebrospinal fluid. Furthermore, tNGS is effective in detecting drug‑resistant strains of Mycobacterium tuberculosis, allowing identification of resistance genes and guiding clinical treatment decisions, which is difficult to achieve with mNGS. In the present review, the application of tNGS in clinical settings and its current limitations are assessed. The continued development of tNGS has the potential to refine diagnostic accuracy and treatment efficacy and improving infectious disease management. However, further research to overcome technical challenges such as workflow time and cost is required.
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