基因诊断中测序的应用及优缺点_郭奕斌解剖.pdfVIP

Hereditas (Beijing) 2014 11 , 36(11): 1121 1130 510080 ~ Sequencing technology in gene diagnosis and its application Yibin Guo Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China Abstract: 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 indispensable role in the definite diagnosis and classification of genetic diseases. In this review, we summarize the research progress in se