Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BACKGROUND: Massively parallel DNA sequencing (MPS) has the potential to revolutionize diagnostics, in particular for monogenic disorders. Inborn errors of metabolism (IEM) constitute a large group of monogenic disorders with highly variable clinical presentation, often with acute, nonspecific initi...

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Publicado en:BMC Genomics
Autores principales: Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Methodology Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299811/
https://ncbi.nlm.nih.gov/pubmed/25495354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-1090
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