Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders

ObjectiveThis study is to investigate the diagnostic yield of the combination of trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare neurodevelopmental disorders (NDDs).MethodsClinical data from consecutive pediatric patients who were diagnosed with rare NDD...

Full description

Bibliographic Details
Main Authors: Chao Gao, Xiaona Wang, Shiyue Mei, Dongxiao Li, Jiali Duan, Pei Zhang, Baiyun Chen, Liang Han, Yang Gao, Zhenhua Yang, Bing Li, Xiu-An Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
neurodevelopmental disorder
whole-exome sequencing
copy number variation sequencing
AIFM1
BRWD3
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00485/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00485/full

Similar Items