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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Targeted next-generation sequencing (tNGS): An upcoming application for pathogen identification in clinical diagnosis
Ao Liang1, Xiaoxue Wu1, Yaqi Zhu1
1Department of Laboratory Medicine, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430070, China.
Journal of Infection and Public Health
|August 26, 2025
Summary
Targeted next-generation sequencing (tNGS) offers a sensitive, efficient, and cost-effective method for detecting multiple pathogens and drug-resistance genes. This review details its workflow, clinical applications, and advantages over traditional methods for improved diagnostic accuracy.
Area of Science:
- Clinical diagnostics
- Molecular biology
- Genomics
Background:
- Traditional pathogen detection methods lack high-throughput capabilities for simultaneous testing.
- Next-generation sequencing (NGS) technologies are emerging in clinical laboratories.
- Targeted next-generation sequencing (tNGS) presents advantages in sensitivity, efficiency, and cost.
Purpose of the Study:
- To review articles on tNGS published in the last two decades.
- To summarize tNGS workflow and clinical applications.
- To compare tNGS with traditional culture and metagenomic NGS (mNGS).
Main Methods:
- Systematic review of tNGS literature over the past 20 years.
- Analysis of tNGS workflow, including sample preparation, sequencing, and data analysis.
- Comparative analysis of tNGS performance against traditional methods and mNGS.
Main Results:
- tNGS demonstrates high sensitivity, efficiency, and cost-effectiveness for pathogen detection.
- tNGS excels in identifying multiple pathogens in mixed infections and detecting drug-resistance genes.
- The review covers latest guidelines and quality control processes for tNGS.
Conclusions:
- tNGS is a valuable tool for enhancing diagnostic accuracy and efficiency in clinical laboratories.
- Optimizing tNGS protocols can improve the detection of pathogens in polymicrobial infections.
- tNGS offers a promising alternative to traditional methods for comprehensive pathogen identification.
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