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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright, Caroline F; McRae, Jeremy F; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas W; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael J; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V.
Afiliación
  • Wright CF; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. caroline.wright@exeter.ac.uk.
  • McRae JF; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Royal Devon & Exeter Hospital, Exeter, UK. caroline.wright@exeter.ac.uk.
  • Clayton S; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Gallone G; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Aitken S; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • FitzGerald TW; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.
  • Jones P; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Prigmore E; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Rajan D; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Lord J; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Sifrim A; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Kelsell R; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Parker MJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Barrett JC; The Wellcome Centre for Ethics and Humanities/Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  • Hurles ME; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • FitzPatrick DR; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Firth HV; The Wellcome Centre for Ethics and Humanities/Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Genet Med ; 20(10): 1216-1223, 2018 10.
Article en En | MEDLINE | ID: mdl-29323667
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Discapacidades del Desarrollo / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Discapacidades del Desarrollo / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos