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Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting

Genetic TestingFamilial Hypercholesterolaemia CohortVariant InterpretationMedicineGeneticsGenetic EpidemiologyPersonal GenomicsHyperlipidemiaBiostatisticsGenomicsPublic HealthDiagnostic ValidationMolecular DiagnosticsSequencingEpidemiologyClinical Setting