二代及三代测序技术在遗传学诊断中的应用进展

遗传病的防治是公共卫生领域的重大课题，而明确病因是遗传病防治的重要环节。高通量测序技术（又称二代测序技术）具有高通量、低成本、高准确度的优点，为遗传诊断及咨询提供了直接证据，已成为遗传学检测不可或缺的有力工具；第三代测序也凭借其长读长的独特优势在临床应用中占据一席之地。二代及三代测序技术各有特点，互为补充，临床中针对不同的检测需求有多种类型的测序方案可供选择。基于此，对二代及三代测序技术的原理、分类及其在遗传学诊断中的应用进展做一综述，以期为临床测序方案的选择提供思路和指导。

Application Progress of Next Generation and the Third Generation Sequencing Technology in Genetic Diagnosis

Prevention and treatment of genetic diseases is a major issue in public health, and it is an important part to clarify the genetic causes. High-throughput sequencing technology (also known as second generation sequencing technology) has the advantages of high throughput, low cost and high accuracy, which provides direct evidence for genetic diagnosis and consultation, and has become an indispensable powerful tool for genetic testing. The third generation sequencing also occupies a place in clinical application by virtue of its unique advantages of long reading time. Next generation and the third generation sequencing technologies have their own characteristics and complement each other. There are many types of sequencing schemes to choose from according to different detection requirements in clinic. Based on this, the principle, classification and application progress of the second and third generation sequencing technologies in genetic diagnosis were reviewed in order to provide ideas and guidance for the selection of clinical sequencing schemes.