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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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Detalles Bibliográficos
Autores principales:	Veldman, Abigail, Kiewiet, Mensiena B. G., Heiner-Fokkema, Margaretha Rebecca, Nelen, Marcel R., Sinke, Richard J., Sikkema-Raddatz, Birgit, Voorhoeve, Els, Westra, Dineke, Dollé, Martijn E. T., Schielen, Peter C. J. I., van Spronsen, Francjan J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Project Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949100/ https://www.ncbi.nlm.nih.gov/pubmed/35323196 http://dx.doi.org/10.3390/ijns8010017

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