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The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Dragojlovic, Nick; Elliott, Alison M; Adam, Shelin; van Karnebeek, Clara; Lehman, Anna; Mwenifumbo, Jill C; Nelson, Tanya N; du Souich, Christèle; Friedman, Jan M; Lynd, Larry D.
Afiliação
  • Dragojlovic N; Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
  • Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Adam S; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • van Karnebeek C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Lehman A; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • Mwenifumbo JC; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Nelson TN; Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Friedman JM; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • Lynd LD; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Genet Med ; 20(9): 1013-1021, 2018 09.
Article em En | MEDLINE | ID: mdl-29300375

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País como assunto: America do norte Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País como assunto: America do norte Idioma: En Ano de publicação: 2018 Tipo de documento: Article