桑格测序
听力损失
DNA测序
遗传学
突变率
突变
生物
基因检测
计算生物学
听力学
医学
基因
作者
Shumin Ren,Xiangdong Kong,Huirong Shi,Qinghua Wu,Ning Liu
出处
期刊:PubMed
日期:2019-04-10
卷期号:36 (4): 301-305
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.04.003
摘要
To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.
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