Publication | Open Access

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test

Assay ValidationFunctional GenomicsSequencingMendelian DisorderMedicineGeneticsNext-generation SequencingPathologyGene CharacterizationDisease Gene IdentificationComprehensive TestExtensive SequencingGene ExpressionMolecular DiagnosticsBioinformaticsVariant Interpretation