Publication | Open Access

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Disease SusceptibilityAllelic VariantMedicineGenetic EpidemiologyPathologyGenetic Test ImplementationClinical SensitivityGenomicsPublic HealthMolecular DiagnosticsPathogenic VariantsGenetic MedicineEpidemiologyVariant InterpretationClinical Genetics