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2018 ; 29
(1
): 4-14
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Next-generation sequencing approach for the diagnosis of human diseases: open
challenges and new opportunities
#MMPMID29765282
Di Resta C
; Galbiati S
; Carrera P
; Ferrari M
EJIFCC
2018[Apr]; 29
(1
): 4-14
PMID29765282
show ga
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 of NGS
data analysis, as well as the interpretation of unknown genetic variants and the
management of the incidental findings. Moreover, we focus the attention on the
new professional figure of bioinformatics and the new role of medical geneticists
in clinical management of patients. Furthermore, we consider some of the main
clinical applications of NGS, taking into consideration that there will be a
growing progress in this field in the forthcoming future.