Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies

Frontiers in Pediatrics

Yuanyuan Zhu¹  Yongchu Liu¹  Cheng Wang²  Feng Zhu³  Wei Cai⁴  Jiehui Ma⁵  Dan Sun⁵  Zhisheng Liu⁵  Kun Ni⁵  Yan Liu⁶  Ming Chen⁷ 

[1] Aegicare Technology Co., Ltd., Shenzhen, China;Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Department of Hematology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Department of Neurology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, China;

关键词: epileptic encephalopathies;    whole exome sequencing;    genetics;    copy number variation;    variant;   

DOI  :  10.3389/fped.2021.635703

来源: Frontiers

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