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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta, Alistair T; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Baños-Piñero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E; Guerrini, Renzo; Harris, Adrian L; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J L; Kreins, Alexandra Y; Kvikstad, Erika M.
Afiliación
  • Pagnamenta AT; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Camps C; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Giacopuzzi E; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Taylor JM; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Hashim M; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Calpena E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Kaisaki PJ; Human Technopole, Viale Rita Levi Montalcini 1, 20157, Milan, Italy.
  • Hashimoto A; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Yu J; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
  • Sanders E; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Schwessinger R; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Hughes JR; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Lunter G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Dreau H; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Ferla M; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Lange L; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Kesim Y; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Ragoussis V; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Vavoulis DV; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Allroggen H; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Ansorge O; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Babbs C; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Banka S; University Medical Center Groningen, Groningen University, PO Box 72, 9700 AB, Groningen, The Netherlands.
  • Baños-Piñero B; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Beeson D; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
  • Ben-Ami T; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Bennett DL; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Bento C; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Blair E; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Brasch-Andersen C; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Bull KR; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Cario H; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Cilliers D; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Conti V; Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.
  • Davies EG; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Dhalla F; Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
  • Dacal BD; Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK.
  • Dong Y; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
  • Dunford JE; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Guerrini R; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Harris AL; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
  • Hartley J; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
  • Hollander G; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
  • Javaid K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
  • Kane M; Pediatric Hematology-Oncology Unit, Kaplan Medical Center, Rehovot, Israel.
  • Kelly D; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
  • Kelly D; Hematology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
  • Knight SJL; NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
  • Kreins AY; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
  • Kvikstad EM; Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Genome Med ; 15(1): 94, 2023 11 09.
Article en En | MEDLINE | ID: mdl-37946251
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedades Raras Límite: Humans Idioma: En Revista: Genome Med Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Enfermedades Raras Límite: Humans Idioma: En Revista: Genome Med Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido