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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E; Short, Patrick; Sergouniotis, Panagiotis I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C; Kasperaviciute, Dalia; Fitzpatrick, David R; Black, Graeme C; Ellingford, Jamie M.
Afiliación
  • Lenassi E; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Carvalho A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Thormann A; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Abrahams L; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
  • Arno G; Medical Genetic Unit, Pediatric Hospital, Coimbra Hospital and Universitary Centre (CHUC), Coimbra, Portugal.
  • Fletcher T; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.
  • Hardcastle C; Genomics England Ltd, London, UK.
  • Lopez J; UCL Institute of Ophthalmology, University College London, London, UK.
  • Hunt SE; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Short P; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Sergouniotis PI; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Michaelides M; Genomics England Ltd, London, UK.
  • Webster A; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.
  • Cunningham F; Sano Genetics Ltd, Cambridge, UK.
  • Ramsden SC; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Kasperaviciute D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Fitzpatrick DR; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Black GC; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Ellingford JM; UCL Institute of Ophthalmology, University College London, London, UK.
J Med Genet ; 60(8): 810-818, 2023 08.
Article en En | MEDLINE | ID: mdl-36669873
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bases de Datos Genéticas / Oftalmopatías Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bases de Datos Genéticas / Oftalmopatías Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido