Your browser doesn't support javascript.
loading
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain, Gregory; Jobling, Rebekah; Walker, Susan; Reuter, Miriam S; Snell, Meaghan; Bowdin, Sarah; Cohn, Ronald D; Dupuis, Lucie; Hewson, Stacy; Mercimek-Andrews, Saadet; Shuman, Cheryl; Sondheimer, Neal; Weksberg, Rosanna; Yoon, Grace; Meyn, M Stephen; Stavropoulos, Dimitri J; Scherer, Stephen W; Mendoza-Londono, Roberto; Marshall, Christian R.
Afiliação
  • Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Walker S; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Snell M; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Bowdin S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Cohn RD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Mercimek-Andrews S; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Shuman C; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
  • Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Weksberg R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Yoon G; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Meyn MS; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
  • Stavropoulos DJ; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Scherer SW; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Marshall CR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Eur J Hum Genet ; 26(5): 740-744, 2018 05.
Article em En | MEDLINE | ID: mdl-29453418
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Predisposição Genética para Doença / Sequenciamento Completo do Genoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Predisposição Genética para Doença / Sequenciamento Completo do Genoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido