Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

被引：0
|
作者：
Rachel Brockhage [1 ]
Jesse Slone [1 ]
Zeqian Ma [2 ]
Madhuri R.Hegde [2 ,3 ,4 ]
C.AlexANDer Valencia [2 ,5 ]
Taosheng Huang [1 ,6 ]
机构：
[1] Division of Human Genetics,Children's Hospital Medical Center,Cincinnati
[2] Human Aging Research Institute,Nanchang University
[3] Department of Human Genetics,Emory University
[4] School of Biological Sciences,Georgia Institute of Technology
[5] West China Hospital,Sichuan University
[6] Perkin Elmer Genomics
来源：
Journal of Genetics and Genomics | 2018年 / 45卷 / 06期
关键词：
WGS; Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing; DNA; PCR;
D O I：
暂无
中图分类号：
R440 [];
学科分类号：
100208 ;
摘要：
Diagnosis of mitochondrial DNA(mt DNA)disorders has traditionally been focused on the presence of point mutations and large deletions.However,deviations in mitochondrial abundance or mt DNA copy number can also be associated with many physiological and pathological conditions(Bai and Wong,2005).For example,reduced mt DNA copy number could be a result of defective mt DNA biosynthesis or mt DNA replication and is associated
引用
收藏
页码：333 / 335
页数：3
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