The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genetics In Medicine 2013, 16: 176-182. PMID: 23928913, DOI: 10.1038/gim.2013.99.Peer-Reviewed Original ResearchConceptsUndiagnosed genetic disordersDiagnostic evaluationNext-generation sequencingGenetic diagnostic evaluationGenetic testingGenetic disordersGenetic diagnosisGeneral genetics clinicsTertiary medical centerFirst clinical visitComprehensive clinical evaluationUnselected consecutive patientsTraditional genetic testingConsecutive patientsInitial visitClinical visitsClinical evaluationFirst visitDiagnostic yieldMedical CenterNumber of visitsDiagnosis rateGenetics clinicDiagnostic algorithmPatients