Published online Feb 27, 2017. doi: 10.5496/wjmg.v7.i1.1
Peer-review started: October 7, 2016
First decision: November 15, 2016
Revised: January 26, 2017
Accepted: February 20, 2017
Article in press: February 21, 2017
Published online: February 27, 2017
Core tip: Cystic fibrosis (CF) is the most common severe monogenic disease of Caucasian population. Despite its apparently simple genetics, it has a complex genotype - phenotype relationship. This is mainly due to the high number of mutations of the causing gene (the CFTR) and to the complexity of the CFTR cellular network. The next generation sequencing approach allows a full genetic characterization of the CFTR and CFTR network improving our diagnostic, prognostic and therapeutic ability. This is coupled to the availability of drugs acting on specific mutational classes. The synergy between massive sequencing and personalized therapy is expected to produce an unparalleled advantage for CF patients.