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

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...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Sun, Dan, Liu, Yan, Cai, Wei, Ma, Jiehui, Ni, Kun, Chen, Ming, Wang, Cheng, Liu, Yongchu, Zhu, Yuanyuan, Liu, Zhisheng, Zhu, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8155357/
https://ncbi.nlm.nih.gov/pubmed/34055682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.635703
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