基因诊断中测序技术的应用及优缺点

doi:10.3724/SP.J.1005.2014.1121

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HEREDITAS(Beijing) ›› 2014, Vol. 36 ›› Issue (11): 1121-1130.doi: 10.3724/SP.J.1005.2014.1121

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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

Received:2014-08-27 Online:2014-11-20 Published:2014-10-28

Abstract

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 sequencing technology, evaluate the advantages and disadvantages of 1^st ~3^rd generation of sequencing technology, and describe its application in gene diagnosis. Also we made forecasts and prospects on its development trend.

Key words: genetic disease, gene diagnosis, sequencing technology, application

Yibin Guo. Sequencing technology in gene diagnosis and its application[J]. HEREDITAS(Beijing), 2014, 36(11): 1121-1130.

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Sequencing technology in gene diagnosis and its application

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