Publication | Open Access

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?

Newborn ScreeningNeonatal GenomicsSequencingCftr Mutation PanelsSecond-tier Cftr PanelGeneticsMedicineNext-generation SequencingPediatricsGenomic SequencingDisease Gene IdentificationGenomicsMolecular DiagnosticsGenomic MedicineHigh Throughput Sequencing