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

• Main Authors: Dan Sun (Author), Yan Liu (Author), Wei Cai (Author), Jiehui Ma (Author), Kun Ni (Author), Ming Chen (Author), Cheng Wang (Author), Yongchu Liu (Author), Yuanyuan Zhu (Author), Zhisheng Liu (Author), Feng Zhu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number variations (CNVs) could be the causes. Whole exome sequencing (WES) is widely applied to detect SNVs/Indels, but the bio...