Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease-related genes. The pilot study was primarily propo...

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Autores principales: Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu
Formato: article
Lenguaje:EN
Publicado: De Gruyter 2021
Materias:
dried blood spot (dbs)
inborn errors of metabolism (iem)
newborn screening (nbs)
next generation sequencing (ngs)
second-tier test
Medical technology
R855-855.5
Acceso en línea:https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f
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https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f

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