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Rare disease gene association discovery in the 100,000 Genomes Project.

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Title: Rare disease gene association discovery in the 100,000 Genomes Project.
Authors: Cipriani V; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. v.cipriani@qmul.ac.uk.; UCL Institute of Ophthalmology, University College London, London, UK. v.cipriani@qmul.ac.uk.; UCL Genetics Institute, University College London, London, UK. v.cipriani@qmul.ac.uk., Vestito L; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK., Magavern EF; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK., Jacobsen JOB; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK., Arno G; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital, London, UK., Behr ER; Cardiology Section, Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.; Cardiology Department, St George's University Hospitals NHS Foundation Trust, London, UK., Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Republic of Ireland., Bertoli M; Northern Genetics Centre, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK., Bockenhauer D; Paediatric Nephrology, University Hospital and Catholic University Leuven, Leuven, Belgium.; Department of Renal Medicine, University College London, London, UK., Bowl MR; UCL Ear Institute, University College London, London, UK., Burley K; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Chan LF; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Chinnery P; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK., Conlon PJ; Department of Medicine, Royal College of Surgeons in Ireland and Department of Nephrology, Beaumont Hospital, Dublin, Republic of Ireland., Costa MA; UCL Institute of Ophthalmology, University College London, London, UK., Davidson AE; UCL Institute of Ophthalmology, University College London, London, UK., Dawson SJ; UCL Ear Institute, University College London, London, UK., Elhassan EAE; Department of Medicine, Royal College of Surgeons in Ireland and Department of Nephrology, Beaumont Hospital, Dublin, Republic of Ireland., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Futema M; Cardiology Section, Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.; Institute of Cardiovascular Science, University College London, London, UK., Gale DP; Department of Renal Medicine, University College London, London, UK., García-Ruiz S; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Corcia CG; Pediatric Cardiology, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.; Mc Gill University, Montreal, Quebec, Canada., Griffin HR; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Hambleton S; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Great North Children's Hospital, Newcastle upon Tyne, UK., Hicks AR; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Houlden H; UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, London, UK., Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Howles SA; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK., Kleta R; Department of Renal Medicine, University College London, London, UK., Lekkerkerker I; Department of Genetics, UMC Utrecht, Utrecht, Netherlands., Lin S; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital, London, UK., Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Mitchison HH; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Morsy H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Newman WG; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Neatu R; Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK., O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, QMUL, London, UK., Ong ACM; Kidney Genetics Group, Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; Sheffield Kidney Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK., Pagnamenta AT; Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Rahman S; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Rajan N; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Department of Dermatology and NIHR Biomedical Research Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Berlin, Germany., Ryten M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; NIHR GOSH Biomedical Research Centre, Great Ormond Street Institute of Child Health, London, UK.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK., Sayer JA; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, The Newcastle upon Tyne NHS Foundation Trust Hospitals, Newcastle upon Tyne, UK.; NIHR Biomedical Research Centre, Newcastle University, Newcastle upon Tyne, UK., Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK., Taylor JC; Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Teltsh O; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Republic of Ireland., Tomlinson I; Department of Oncology, University of Oxford, Oxford, UK., Tucci A; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK., Turnbull C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., van Eerde AM; Department of Genetics, UMC Utrecht, Utrecht, Netherlands., Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.; MRC Laboratory of Medical Sciences, Imperial College London, London, UK., Watts LM; Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Foundation Trust, Oxford, UK., Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital, London, UK., Westbury SK; Bristol Medical School, University of Bristol, Bristol, UK., Zheng SL; National Heart and Lung Institute, Imperial College London, London, UK.; MRC Laboratory of Medical Sciences, Imperial College London, London, UK., Caulfield M; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK., Smedley D; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. d.smedley@qmul.ac.uk.
Source: Nature [Nature] 2025 Feb 26. Date of Electronic Publication: 2025 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
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          Dates:
            – D: 26
              M: 02
              Text: 2025 Feb 26
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1476-4687
          Titles:
            – TitleFull: Nature
              Type: main
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