Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.
Sun D, Liu Y, Cai W, Ma J, Ni K, Chen M, Wang C, Liu Y, Zhu Y, Liu Z, et al. Front Pediatr. 2021; 9:635703. Epub 2021 May 13.