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...

Descripción completa

Guardado en:

Detalles Bibliográficos
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
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Sea el primero en dejar un comentario!

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

Ejemplares similares