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Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities

The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue...

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Detalles Bibliográficos
Autores principales: Di Resta, Chiara, Galbiati, Silvia, Carrera, Paola, Ferrari, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949614/
https://www.ncbi.nlm.nih.gov/pubmed/29765282