关键词: 高通量测序, 三代测序, 遗传病, 遗传学诊断

Abstract: 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.

Key words: high throughput sequencing, the third generation sequencing, genetic diseases, genetic diagnosis