期刊论文详细信息
Frontiers in Pediatrics | |
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies | |
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 | |