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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel, Anath C; Costain, Gregory; Monfared, Nasim; Walker, Susan; Reuter, Miriam S; Hosseini, S Mohsen; Thiruvahindrapuram, Bhooma; Merico, Daniele; Jobling, Rebekah; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Sung, Wilson W L; Wang, Zhuozhi; Bikangaga, Peter; Boelman, Cyrus; Carter, Melissa T; Cordeiro, Dawn; Cytrynbaum, Cheryl; Dell, Sharon D; Dhir, Priya; Dowling, James J; Heon, Elise; Hewson, Stacy; Hiraki, Linda; Inbar-Feigenberg, Michal; Klatt, Regan; Kronick, Jonathan; Laxer, Ronald M; Licht, Christoph; MacDonald, Heather; Mercimek-Andrews, Saadet; Mendoza-Londono, Roberto; Piscione, Tino; Schneider, Rayfel; Schulze, Andreas; Silverman, Earl; Siriwardena, Komudi; Snead, O Carter; Sondheimer, Neal; Sutherland, Joanne; Vincent, Ajoy; Wasserman, Jonathan D; Weksberg, Rosanna; Shuman, Cheryl; Carew, Chris; Szego, Michael J; Hayeems, Robin Z; Basran, Raveen; Stavropoulos, Dimitri J; Ray, Peter N.
Afiliación
  • Lionel AC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Costain G; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Monfared N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Walker S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Reuter MS; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hosseini SM; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Thiruvahindrapuram B; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Jobling R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Nalpathamkalam T; Cardiac Genome Clinic, Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Wang Z; Deep Genomics Inc., Toronto, Ontario, Canada.
  • Bikangaga P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Boelman C; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Carter MT; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cordeiro D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cytrynbaum C; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dell SD; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Dhir P; William Osler Health Centre, Brampton, Ontario, Canada.
  • Dowling JJ; Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Heon E; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Hewson S; Regional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Hiraki L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Inbar-Feigenberg M; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Klatt R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kronick J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Laxer RM; Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Licht C; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • MacDonald H; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Piscione T; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Schneider R; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Schulze A; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Silverman E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Siriwardena K; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Snead OC; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Sondheimer N; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Sutherland J; Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Vincent A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Wasserman JD; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Weksberg R; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Shuman C; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Carew C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Szego MJ; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Hayeems RZ; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Basran R; Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Stavropoulos DJ; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Ray PN; Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Genet Med ; 20(4): 435-443, 2018 04.
Article en En | MEDLINE | ID: mdl-28771251
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación Completa del Genoma / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación Completa del Genoma / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos