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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2022-02-01
coleção:	International Journal of Neonatal Screening
Assuntos:	next-generation sequencing first-tier heel prick dried blood spot inherited metabolic disorders inborn errors of metabolism
Acesso em linha:	https://www.mdpi.com/2409-515X/8/1/17
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