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

Affiliations

• ¹ Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
• ² PerkinElmer Genomics, Branford, CT 06405, USA.
• ³ PerkinElmer Genomics, Branford, CT 06405, USA; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA; School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA 30332, USA.
• ⁴ PerkinElmer Genomics, Branford, CT 06405, USA; West China Hospital, Sichuan University, Chengdu 610041, China.
• ⁵ Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Human Aging Research Institute, Nanchang University, Nanchang 330031, China. Electronic address: Taosheng.Huang@cchmc.org.