Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study

Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study

This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province. We collected clinical data from three NBS centers. All in...

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Bibliographic Details
Main Authors: Yuqi Yang, Leilei Wang, Benjing Wang, Shuang Liu, Bin Yu, Ting Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
newborn screening
inborn errors of metabolism
tandem mass spectrometry
next-generation sequencing
gene diagnosis
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00086/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00086/full

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