Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). Next-generation sequencing (NGS) is expected...

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Bibliographic Details
Main Authors: Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:International Journal of Neonatal Screening
Subjects:
next-generation sequencing
first-tier
heel prick
dried blood spot
inherited metabolic disorders
inborn errors of metabolism
Online Access:https://www.mdpi.com/2409-515X/8/1/17

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https://www.mdpi.com/2409-515X/8/1/17

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