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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro, Ernest; Astle, William J; Megy, Karyn; Gräf, Stefan; Greene, Daniel; Shamardina, Olga; Allen, Hana Lango; Sanchis-Juan, Alba; Frontini, Mattia; Thys, Chantal; Stephens, Jonathan; Mapeta, Rutendo; Burren, Oliver S; Downes, Kate; Haimel, Matthias; Tuna, Salih; Deevi, Sri V V; Aitman, Timothy J; Bennett, David L; Calleja, Paul; Carss, Keren; Caulfield, Mark J; Chinnery, Patrick F; Dixon, Peter H; Gale, Daniel P; James, Roger; Koziell, Ania; Laffan, Michael A; Levine, Adam P; Maher, Eamonn R; Markus, Hugh S; Morales, Joannella; Morrell, Nicholas W; Mumford, Andrew D; Ormondroyd, Elizabeth; Rankin, Stuart; Rendon, Augusto; Richardson, Sylvia; Roberts, Irene; Roy, Noemi B A; Saleem, Moin A; Smith, Kenneth G C; Stark, Hannah; Tan, Rhea Y Y; Themistocleous, Andreas C; Thrasher, Adrian J; Watkins, Hugh; Webster, Andrew R; Wilkins, Martin R; Williamson, Catherine.
Afiliación
  • Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.
  • Astle WJ; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.
  • Megy K; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK. et341@cam.ac.uk.
  • Gräf S; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
  • Greene D; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
  • Shamardina O; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Allen HL; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Frontini M; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Thys C; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Stephens J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Mapeta R; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
  • Burren OS; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Downes K; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Haimel M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Tuna S; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Aitman TJ; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Bennett DL; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Calleja P; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
  • Carss K; British Heart Foundation Cambridge Centre of Excellence, University of Cambridge, Cambridge, UK.
  • Caulfield MJ; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
  • Chinnery PF; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Dixon PH; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Gale DP; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • James R; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Koziell A; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Laffan MA; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
  • Levine AP; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Maher ER; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Markus HS; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Morales J; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Morrell NW; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Mumford AD; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Ormondroyd E; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Rankin S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Rendon A; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Richardson S; MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.
  • Roberts I; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Roy NBA; The Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Saleem MA; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
  • Smith KGC; High Performance Computing Service, University of Cambridge, Cambridge, UK.
  • Stark H; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Tan RYY; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Themistocleous AC; Genomics England Ltd, London, UK.
  • Thrasher AJ; William Harvey Research Institute, NIHR Biomedical Research Centre at Barts, Queen Mary University of London, London, UK.
  • Watkins H; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
  • Webster AR; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Wilkins MR; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
  • Williamson C; Women and Children's Health, School of Life Course Sciences, King's College London, London, UK.
Nature ; 583(7814): 96-102, 2020 07.
Article en En | MEDLINE | ID: mdl-32581362
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Raras / Internacionalidad / Secuenciación Completa del Genoma / Programas Nacionales de Salud Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Nature Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Raras / Internacionalidad / Secuenciación Completa del Genoma / Programas Nacionales de Salud Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Nature Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido