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
Sun, Dan D; Liu, Yan Y; Cai, Wei W; Ma, Jiehui J; Ni, Kun K; Chen, Ming M; Wang, Cheng C; Liu, Yongchu Y; Zhu, Yuanyuan Y; Liu, Zhisheng Z; Zhu, Feng F