FRE 3642 Molecular and Cellular Medecine, CNRS, Institut Pasteur de Lille and University Lille Nord de France, Lille 59019, France.
GENES DIFFUSION, 3595, route de Tournai, DOUAI 59501, France.
Pathogens. 2014 Apr 2;3(2):258-79. doi: 10.3390/pathogens3020258.
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.
高通量测序(HTS)技术的最新进展使得全基因组测序(WGS)或重测序变得容易且成本降低。HTS 与针对测序应用的适应性、自动化和快速生物信息学解决方案相结合,有望准确、及时地识别和描述病原体。许多研究表明,从 HTS 分析中获得的数据允许基于基因组的诊断,这与表型观察一致。这些概念验证可能是临床微生物学未来的第一步。从概念到常规使用,需要考虑许多参数来促进 HTS 成为帮助医生和临床医生进行微生物学研究的有力工具。这篇综述强调了实现这一目标需要完成的里程碑。