An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort

Craniosynostosis (CRS) is a disease with prematurely fused cranial sutures. In the last decade, the whole-exome sequencing (WES) was widely used in Caucasian populations. The WES largely contributed in genetic diagnosis and exploration on new genetic mechanisms of CRS. In this study, we enrolled 264...

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Bibliographic Details
Main Authors: Jieyi Chen, Ping Zhang, Meifang Peng, Bo Liu, Xiao Wang, Siyuan Du, Yao Lu, Xiongzheng Mu, Yulan Lu, Sijia Wang, Yingzhi Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
craniosynostosis
whole-exome sequencing
genetic diagnosis
research pipeline
candidate variants
cost estimation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.967688/full

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