第三代测序技术的研究进展与临床应用

Research progress and clinical application of the third- generation sequencing techniques

摘要:

Sanger测序法，又称第一代测序技术，作为测序金标准推动了人类基因组“工作框架图”的绘制，但通量低、成本高的缺点限制了其进一步大规模应用。第二代测序技术，又称下一代测序技术，因其通量高、成本低等优点使得基因测序在基础研究与临床诊疗中得到广泛应用，但短读长一直是其不可回避的技术短板。第三代测序技术的出现，因其具有长读长优势，为基因序列上复杂重复区域解析与高质量基因组组装提供了新的技术手段。近年来，第三代测序技术进一步发展与完善，同时在肿瘤、免疫、生殖等相关领域逐步体现出临床应用价值。本文将综述第三代测序技术的研究进展与临床应用。

Abstract:

The Sanger sequencing techniques, also known as the first-generation sequencing techniques and the gold standard of sequencing, have promoted the completion of "working draft" of the human genome, but the disadvantages of low throughput and high cost limit its large-scale application. The second-generation sequencing techniques, also known as the next-generation sequencing techniques, have widely used in basic research and clinical application because of its high throughput and low cost, but the short reads has always been an unavoidable shortcoming. Then, the emergence of the third-generation sequencing techniques, with the long reads, provides new technology selection for the analysis of complex repetitive regions on genome sequences and the assembly of high-quality genomes. In recent years, the third-generation sequencing techniques have been further developed, and have gradually demonstrated the clinical application value. This article reviewed the research progress and clinical application of the third-generation sequencing techniques.