Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the d...

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Detalles Bibliográficos
Autores principales: de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464859/
https://www.ncbi.nlm.nih.gov/pubmed/32718099
http://dx.doi.org/10.3390/jcm9082362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464859/
https://www.ncbi.nlm.nih.gov/pubmed/32718099
http://dx.doi.org/10.3390/jcm9082362

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