中文摘要：

基因突变是当今生命科学研究的热点之一,其检测方法和诊断技术发展迅猛.测序技术在基因病的确诊、分型等方面发挥着不可或缺的作用.文章重点围绕第一～三代测序技术的研究进展、优缺点及其在基因诊断中的应用进行评述,并对未来的发展趋势进行了预测和展望.

英文摘要：

The study of gene mutation is one of the hot topics in the field of life science nowadays, and the related detection methods and diagnostic technology have been developed rapidly. Sequencing technology plays an indis- pensable role in the definite diagnosis and classification of genetic diseases. In this review, we summarize the re- search progress in sequencing technology, evaluate the advantages and disadvantages of 1^st -3^rd generation of se- quencing technology, and describe its application in gene diagnosis. Also we made forecasts and prospects on its development trend.