Article
Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017
Currier Robert J, Sciortino Stan, Liu Ruiling, Bishop Tracey, Alikhani Koupaei Rasoul, Feuchtbaum Lisa
Abstract excerpt
PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012...
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