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Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service

Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National Health Service (UK NHS) laboratory. An NGS panel t...

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Detalles Bibliográficos
Autores principales: van Campen, Julia C., Sollars, Elizabeth S. A., Thomas, Rebecca C., Bartlett, Clare M., Milano, Antonio, Parker, Matthew D., Dawe, Jennifer, Winship, Peter R., Peck, Gerrard, Grafham, Darren, Kirk, Richard J., Bonham, James R., Goodeve, Anne C., Dalton, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6914376/
https://www.ncbi.nlm.nih.gov/pubmed/31844782
http://dx.doi.org/10.3390/ijns5040040