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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Boycott, Kym M; Hartley, Taila; Biesecker, Leslie G; Gibbs, Richard A; Innes, A Micheil; Riess, Olaf; Belmont, John; Dunwoodie, Sally L; Jojic, Nebojsa; Lassmann, Timo; Mackay, Deborah; Temple, I Karen; Visel, Axel; Baynam, Gareth.
Afiliación
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Gibbs RA; Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Belmont J; Illumina, Madison, WI, USA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
  • Dunwoodie SL; Victor Chang Cardiac Research Institute, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
  • Jojic N; Microsoft Research, Seattle, Washington, USA.
  • Lassmann T; Telethon Kids Institute, University of Western Australia, Nedlands, WA, Australia.
  • Mackay D; Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.
  • Temple IK; Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.
  • Visel A; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, CA, USA; DOE Joint Genome Institute, CA, USA; The University of California at Merced, CA, USA.
  • Baynam G; Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of He
Cell ; 177(1): 32-37, 2019 03 21.
Article en En | MEDLINE | ID: mdl-30901545
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Raras / Investigación Biomédica Traslacional / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Cell Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Raras / Investigación Biomédica Traslacional / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Cell Año: 2019 Tipo del documento: Article