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A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank.

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Title: A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank.
Authors: Torralbo A; Institute of Health Informatics, University College London, London, UK. a.torralbo@ucl.ac.uk., Davitte JM; Department of Human Genetics and Genomics, GlaxoSmithKline, Collegeville, PA, USA., Croteau-Chonka DC; Department of Human Genetics and Genomics, GlaxoSmithKline, Cambridge, MA, USA., Ytsma C; Institute of Health Informatics, University College London, London, UK., Tomlinson C; Institute of Health Informatics, University College London, London, UK.; University College London Hospitals NIHR Biomedical Research Centre, University College London, London, UK., Fitzpatrick NK; Institute of Health Informatics, University College London, London, UK.; Health Data Research, London, UK., Chung SC; Institute of Cardiovascular Science, University College of London, London, UK., Fatemifar G; Institute of Health Informatics, University College London, London, UK.; Novo Nordisk Research Centre Oxford, Oxford, UK., Cortes AS; Department of Human Genetics and Genomics, GlaxoSmithKline, Heidelberg, Germany., Richardson TG; Department of Human Genetics and Genomics, GlaxoSmithKline, Stevenage, UK., Barclay M; Epidemiology of Cancer Healthcare & Outcomes (ECHO), Dept. of Behavioural Science and Health, Institute of Epidemiology and Healthcare, University College London, London, UK., Carrasco-Zanini J; Precision Healthcare University Research Institute, Queen Mary University London, London, UK., Finan C; Institute of Cardiovascular Science, University College of London, London, UK., Hemingway H; Institute of Health Informatics, University College London, London, UK.; UCL Hospitals Biomedical Research Center, London, UK., Hingorani AD; Institute of Cardiovascular Science, University College of London, London, UK., Kuan V; Institute of Cardiovascular Science, University College of London, London, UK., Langenberg C; Precision Healthcare University Research Institute, Queen Mary University London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Lyratzopoulos G; Epidemiology of Cancer Healthcare & Outcomes (ECHO), Dept. of Behavioural Science and Health, Institute of Epidemiology and Healthcare, University College London, London, UK., Lumbers RT; Institute of Health Informatics, University College London, London, UK., Pietzner M; Precision Healthcare University Research Institute, Queen Mary University London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Shah AD; Institute of Health Informatics, University College London, London, UK.; University College London Hospitals NHS Trust, London, UK., Thygesen JH; Institute of Health Informatics, University College London, London, UK., Zelenka N; Institute of Health Informatics, University College London, London, UK., Whittaker JC; Department of Human Genetics and Genomics, GlaxoSmithKline, Stevenage, UK.; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK., Ehm MG; Department of Human Genetics and Genomics, GSK, Collegeville, PA, USA.; Network.Bio, New York, NY, USA., Denaxas S; Institute of Health Informatics, University College London, London, UK. s.denaxas@ucl.ac.uk.; Health Data Research, London, UK. s.denaxas@ucl.ac.uk.; British Heart Foundation Data Science Center, London, UK. s.denaxas@ucl.ac.uk.; NIHR UCL Hospitals BRC, London, UK. s.denaxas@ucl.ac.uk.; National and Kapodistrian University of Athens, NKUA, Athens, Greece. s.denaxas@ucl.ac.uk.
Source: Scientific reports [Sci Rep] 2025 Jul 09; Vol. 15 (1), pp. 24607. Date of Electronic Publication: 2025 Jul 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
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  Data: A computational framework for defining and validating reproducible phenotyping algorithms of 313 diseases in the UK Biobank.
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Institute of Health Informatics, University College London, London, UK.; Health Data Research, London, UK.<br /><searchLink fieldCode="AU" term="%22Chung+SC%22">Chung SC</searchLink>; Institute of Cardiovascular Science, University College of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Fatemifar+G%22">Fatemifar G</searchLink>; Institute of Health Informatics, University College London, London, UK.; Novo Nordisk Research Centre Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Cortes+AS%22">Cortes AS</searchLink>; Department of Human Genetics and Genomics, GlaxoSmithKline, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Richardson+TG%22">Richardson TG</searchLink>; Department of Human Genetics and Genomics, GlaxoSmithKline, Stevenage, UK.<br /><searchLink fieldCode="AU" term="%22Barclay+M%22">Barclay M</searchLink>; Epidemiology of Cancer Healthcare & Outcomes (ECHO), Dept. of Behavioural Science and Health, Institute of Epidemiology and Healthcare, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Carrasco-Zanini+J%22">Carrasco-Zanini J</searchLink>; Precision Healthcare University Research Institute, Queen Mary University London, London, UK.<br /><searchLink fieldCode="AU" term="%22Finan+C%22">Finan C</searchLink>; Institute of Cardiovascular Science, University College of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hemingway+H%22">Hemingway H</searchLink>; Institute of Health Informatics, University College London, London, UK.; UCL Hospitals Biomedical Research Center, London, UK.<br /><searchLink fieldCode="AU" term="%22Hingorani+AD%22">Hingorani AD</searchLink>; Institute of Cardiovascular Science, University College of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Kuan+V%22">Kuan V</searchLink>; Institute of Cardiovascular Science, University College of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Langenberg+C%22">Langenberg C</searchLink>; Precision Healthcare University Research Institute, Queen Mary University London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Lyratzopoulos+G%22">Lyratzopoulos G</searchLink>; Epidemiology of Cancer Healthcare & Outcomes (ECHO), Dept. of Behavioural Science and Health, Institute of Epidemiology and Healthcare, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Lumbers+RT%22">Lumbers RT</searchLink>; Institute of Health Informatics, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Pietzner+M%22">Pietzner M</searchLink>; Precision Healthcare University Research Institute, Queen Mary University London, London, UK.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Shah+AD%22">Shah AD</searchLink>; Institute of Health Informatics, University College London, London, UK.; University College London Hospitals NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Thygesen+JH%22">Thygesen JH</searchLink>; Institute of Health Informatics, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Zelenka+N%22">Zelenka N</searchLink>; Institute of Health Informatics, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Whittaker+JC%22">Whittaker JC</searchLink>; Department of Human Genetics and Genomics, GlaxoSmithKline, Stevenage, UK.; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Ehm+MG%22">Ehm MG</searchLink>; Department of Human Genetics and Genomics, GSK, Collegeville, PA, USA.; Network.Bio, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Denaxas+S%22">Denaxas S</searchLink>; Institute of Health Informatics, University College London, London, UK. s.denaxas@ucl.ac.uk.; Health Data Research, London, UK. s.denaxas@ucl.ac.uk.; British Heart Foundation Data Science Center, London, UK. s.denaxas@ucl.ac.uk.; NIHR UCL Hospitals BRC, London, UK. s.denaxas@ucl.ac.uk.; National and Kapodistrian University of Athens, NKUA, Athens, Greece. s.denaxas@ucl.ac.uk.
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