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Updated: Aug 20, 2025

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Published on: June 6, 2025
High Throughput Sequencing for Clinical Tuberculosis: An Overview
Tara E Ness1,2, Andrew DiNardo2, Maha R Farhat3
1Division of Pediatric Infectious Diseases, Baylor College of Medicine/Texas Children's Hospital, Houston, TX 77030, USA.
High throughput sequencing (HTS) aids in diagnosing tuberculosis (TB) by detecting Mycobacterium tuberculosis DNA and predicting drug susceptibility. This review explores HTS applications, challenges, and innovations for TB diagnostics.
Area of Science:
- Microbiology
- Genomics
- Infectious Diseases
Background:
- High throughput sequencing (HTS) offers a powerful tool for pathogen identification.
- Tuberculosis (TB) diagnosis remains a critical global health challenge.
- Current diagnostic methods for TB have limitations in speed and comprehensiveness.
Purpose of the Study:
- To review the clinical applications of HTS for diagnosing Mycobacterium tuberculosis infections.
- To analyze the strengths and limitations of various HTS platforms and analytical tools.
- To provide a framework for future innovations in HTS-based TB diagnostics.
Main Methods:
- Literature review of studies on HTS for TB diagnosis.
- Analysis of workflow challenges, platform capabilities, and bioinformatics tools.
- Synthesis of current evidence on HTS performance in clinical settings.
Main Results:
- HTS can simultaneously detect Mycobacterium tuberculosis DNA and infer drug susceptibility.
- Various HTS platforms exhibit different strengths and limitations regarding cost, speed, and sensitivity.
- Bioinformatics tools are crucial for accurate data analysis and interpretation.
Conclusions:
- HTS holds significant promise for revolutionizing TB diagnostics by enabling rapid, comprehensive analysis.
- Addressing workflow challenges and optimizing analytical pipelines are key for widespread clinical adoption.
- Further research and development are needed to fully realize the potential of HTS in TB management.
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