Article
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2020
Wang Jian, Gu Weihong, Huang Hui, Shen Yiping, Xiong Hui, Huang Yi, Qi Ming, An Dongyan, Ma Duan, Deng Xuxu, Gao Yong, Wang Xiaodong, Zhou Zaiwei, Wu Jian, Xu Xiong, Zhang Wei, Kang Hui, Peng Zhiyu, Yu Shihui, Wang Liang, Huang Shangzhi
Abstract excerpt
Pre-testing preparation is the basis and starting point of genetic testing. The process includes collection of clinical information, formulation of testing scheme, genetic counseling before testing, and completion of informed consent and testing authorization. To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS), thereby reducing medical...
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