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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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Podrobná bibliografie
Vydáno v:EJIFCC
Hlavní autoři: Di Resta, Chiara, Galbiati, Silvia, Carrera, Paola, Ferrari, Maurizio
Médium: Artigo
Jazyk:Inglês
Vydáno: The Communications and Publications Division (CPD) of the IFCC 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949614/
https://ncbi.nlm.nih.gov/pubmed/29765282
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