桑格测序
遗传学
基因
生物
外显子
复合杂合度
DNA测序
突变
作者
Jun He,Yang Na,Jiyang Liu
出处
期刊:PubMed
日期:2020-11-10
卷期号:37 (11): 1213-1216
标识
DOI:10.3760/cma.j.cn511374-20200304-00126
摘要
For newborns carrying single heterozygous variants of the GJB2 or SLC26A4 gene by genechip analysis, the detection rate for other variants is quite high. Sanger sequencing can significantly improve the detection rate of high-risk newborns and enrich the variant spectrum of deafness genes.
科研通智能强力驱动
Strongly Powered by AbleSci AI