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High-Throughput Sequencing, a Versatile Weapon to Support Genome-Based Diagnosis in Infectious Diseases: Applications to Clinical Bacteriology

期刊

PATHOGENS
卷 3, 期 2, 页码 258-279

出版社

MDPI
DOI: 10.3390/pathogens3020258

关键词

high-throughput sequencing; whole genome sequencing; pathogenomics; bioinformatics; analysis pipeline; P4-medicine; genome-based diagnosis

资金

  1. University Lille 2
  2. Institut Pasteur de Lille and Genes Diffusion company

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The recent progresses of high-throughput sequencing (HTS) technologies enable easy and cost-reduced access to whole genome sequencing (WGS) or re-sequencing. HTS associated with adapted, automatic and fast bioinformatics solutions for sequencing applications promises an accurate and timely identification and characterization of pathogenic agents. Many studies have demonstrated that data obtained from HTS analysis have allowed genome-based diagnosis, which has been consistent with phenotypic observations. These proofs of concept are probably the first steps toward the future of clinical microbiology. From concept to routine use, many parameters need to be considered to promote HTS as a powerful tool to help physicians and clinicians in microbiological investigations. This review highlights the milestones to be completed toward this purpose.

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