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

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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Bibliographic Details
Main Authors: Dan Sun, Yan Liu, Wei Cai, Jiehui Ma, Kun Ni, Ming Chen, Cheng Wang, Yongchu Liu, Yuanyuan Zhu, Zhisheng Liu, Feng Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pediatrics
Subjects:
epileptic encephalopathies
whole exome sequencing
genetics
copy number variation
variant
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.635703/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.635703/full

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