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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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Publicado en:EJIFCC
Autores principales: Di Resta, Chiara, Galbiati, Silvia, Carrera, Paola, Ferrari, Maurizio
Formato: Artigo
Lenguaje:Inglês
Publicado: The Communications and Publications Division (CPD) of the IFCC 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949614/
https://ncbi.nlm.nih.gov/pubmed/29765282
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