高通量测序技术的研究进展

Research progress of high-throughput sequencing technology

高通量测序技术又称二代测序技术(NGS),与被认为是第一代测序技术的传统Sanger毛细管电泳测序方法相比,二代测序技术以更低的成本提供更高通量的数据,并实现大规模的基因组研究,单次运行数据量大,可以同时对数百万个DNA分子实施测序。随着当代科学技术的进步,二代测序平台已逐渐被引入包括肿瘤学在内的众多领域中,如临床诊断,农业基因组学和法医学等。尽管NGS目前已广泛用于目的性研究,但由于该方法的新颖性,在临床实践中的应用尚未完全指南式化,大多数临床医生对NGS认知及解读能力参差不齐。该文就NGS方法、原理及其优劣性进行综述,旨在帮助临床医生利用NGS技术对疾病进行更全方位的诊疗提供参考。

High-throughput sequencing is also known as next-generation sequencing(NGS).Compared with the traditional Sanger capillary electrophoresis sequencing method,which is considered to be the first generation of sequencing technology,NGS technology provides higher throughput data at a lower cost and enables large-scale genome research.Its single-run data volume is large,and millions of DNA molecules can be sequenced simultaneously.With the advancement of contemporary science and technology,the NGS platform has been gradually introduced into many fields,including clinical diagnosis,agricultural genomics and forensic science.Although NGS is currently widely used for purposeful research,its application in clinical practice has not been fully guided due to the novelty of the method.Most clinicians have different understanding and interpretation of NGS.The present article is an overview of the NGS methods,principles,and their advantages and disadvantages,and aims to help clinicians use NGS technology to provide a more comprehensive diagnosis and treatment of diseases.