Laboratory Medicine ›› 2017, Vol. 32 ›› Issue (4): 250-254.DOI: 10.3969/j.issn.1673-8640.2017.04.002

• Orginal Article • Previous Articles     Next Articles

Application and prospect of high-throughput sequencing in clinical molecular diagnosis

JIANG Xiaofeng   

  1. Department of Clinical Laboratory,the Fourth Affiliated Hospital of Harbin Medical University,Harbin 150001,Heilongjiang,China
  • Received:2016-09-01 Online:2017-04-20 Published:2017-05-01

Abstract:

:High-throughput sequencing,next generation sequencing(NGS),is a new type of genetic screening technology. Its innovation accelerates the understanding of genetic markers and molecular mechanism,and also promotes clinical gene diagnosis from single gene to multi-genes,especially for complex genetic diseases. As the new sequencing technology used in clinic,doctors will change the management of genetic diseases,and patients will be placed into different groups eventually based on genetic diagnosis. In addition,with the improvement of bioinformatics and package,the application of NGS in clinic will be more routine. This review discusses the major platform and performance of NGS and its application in clinic and the process of NGS analysis of sequence variations.

Key words: High-throughput sequencing, Complex genetic diseases, Clinical gene diagnosis, Bioinformatics

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