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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford, Jamie M; Barton, Stephanie; Bhaskar, Sanjeev; Williams, Simon G; Sergouniotis, Panagiotis I; O'Sullivan, James; Lamb, Janine A; Perveen, Rahat; Hall, Georgina; Newman, William G; Bishop, Paul N; Roberts, Stephen A; Leach, Rick; Tearle, Rick; Bayliss, Stuart; Ramsden, Simon C; Nemeth, Andrea H; Black, Graeme C M.
Afiliación
  • Ellingford JM; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom.
  • Barton S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Bhaskar S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Williams SG; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Sergouniotis PI; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal E
  • O'Sullivan J; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom.
  • Lamb JA; Institute of Population Health, University of Manchester, Manchester, United Kingdom.
  • Perveen R; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom.
  • Hall G; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Newman WG; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom.
  • Bishop PN; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Roberts SA; Centre for Biostatistics, Institute of Population Health, University of Manchester, Manchester, United Kingdom.
  • Leach R; Complete Genomics, Inc., Mountain View, California.
  • Tearle R; Complete Genomics, Inc., Mountain View, California.
  • Bayliss S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
  • Nemeth AH; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
  • Black GC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal E
Ophthalmology ; 123(5): 1143-50, 2016 May.
Article en En | MEDLINE | ID: mdl-26872967
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Enfermedades Hereditarias del Ojo / Genoma / Análisis de Secuencia de ADN / Técnicas de Diagnóstico Molecular Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Ophthalmology Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Enfermedades Hereditarias del Ojo / Genoma / Análisis de Secuencia de ADN / Técnicas de Diagnóstico Molecular Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Ophthalmology Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido