Lecuit Marc, Eloit Marc
Institut Pasteur, Inserm Unit 1117, Biology of Infection Unit, Paris, France.
b Biology of Infection Unit , Institut Pasteur, Inserm U1117, Pathogen Discovery Laboratory , Paris , France.
Expert Rev Mol Diagn. 2015;15(12):1517-9. doi: 10.1586/14737159.2015.1111140. Epub 2015 Nov 7.
Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to its cost, complexity and lack of standardization. Recent improvements in sample preparation and bioinformatics pipelines and decrease in cost now allow actionable diagnostics in patients. The potency and limits of WG-NGS and possible future indications are discussed here. WG-NGS will likely soon become a standard procedure in microbiological diagnosis.
基于全基因组二代测序（WG-NGS）技术，现在可以直接在生物样本中对微生物进行非靶向鉴定，该技术能够对核酸进行深度测序、数据挖掘，并在没有任何先验假设的情况下筛选出病原体序列。由于成本高、操作复杂且缺乏标准化，WG-NGS最初仅用作研究工具。最近样本制备和生物信息学流程的改进以及成本的降低，现在已能够对患者进行可行的诊断。本文讨论了WG-NGS的优势和局限性以及未来可能的应用。WG-NGS可能很快会成为微生物诊断的标准程序。
