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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Tan, Tiong Yang; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Fanjul-Fernandez, Miriam; Marum, Justine E; Kumar, Vanessa Siva; Stark, Zornitza; Yeung, Alison; Brown, Natasha J; Stutterd, Chloe; Delatycki, Martin B; Sadedin, Simon; Martyn, Melissa; Goranitis, Ilias; Thorne, Natalie; Gaff, Clara L; White, Susan M.
Afiliação
  • Tan TY; Victorian Clinical Genetics Services, Melbourne, Australia. tiong.tan@vcgs.org.au.
  • Lunke S; Murdoch Children's Research Institute, Melbourne, Australia. tiong.tan@vcgs.org.au.
  • Chong B; Department of Paediatrics, University of Melbourne, Melbourne, Australia. tiong.tan@vcgs.org.au.
  • Phelan D; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Fanjul-Fernandez M; Murdoch Children's Research Institute, Melbourne, Australia.
  • Marum JE; Department of Pathology, University of Melbourne, Melbourne, Australia.
  • Kumar VS; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Stark Z; Murdoch Children's Research Institute, Melbourne, Australia.
  • Yeung A; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Brown NJ; Murdoch Children's Research Institute, Melbourne, Australia.
  • Stutterd C; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Delatycki MB; Murdoch Children's Research Institute, Melbourne, Australia.
  • Sadedin S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Martyn M; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Goranitis I; Murdoch Children's Research Institute, Melbourne, Australia.
  • Thorne N; Victorian Clinical Genetics Services, Melbourne, Australia.
  • Gaff CL; Murdoch Children's Research Institute, Melbourne, Australia.
  • White SM; Victorian Clinical Genetics Services, Melbourne, Australia.
Eur J Hum Genet ; 27(12): 1791-1799, 2019 12.
Article em En | MEDLINE | ID: mdl-31320747

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise Custo-Benefício / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise Custo-Benefício / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article