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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

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Title: Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Authors: Martin-Geary AC; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Blakes AJM; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Dawes R; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Findlay SD; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA., Lord J; Genomics England, UK., Walker S; Genomics England, UK., Talbot-Martin J; Department of Bioengineering, Imperial College London, UK., Wieder N; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., D'Souza EN; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Fernandes M; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Lahiri N; St George's, University of London & St George's University Hospitals NHS Foundation Trust, Institute of Molecular and Clinical Sciences, London, SW17 0QT, UK., Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., DeGoede CGEL; Department of Paediatric Neurology, Clinical research Facility, Lancashire Teaching Hospitals NHS Trust.; Manchester Metropolitan University., Anderson ER; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burge CB; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; New York Genome Center, New York, NY, USA., Ellingford J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Whiffin N; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 12. Date of Electronic Publication: 2023 Sep 12.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
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  Data: <searchLink fieldCode="AU" term="%22Martin-Geary+AC%22">Martin-Geary AC</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Blakes+AJM%22">Blakes AJM</searchLink>; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Dawes+R%22">Dawes R</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Findlay+SD%22">Findlay SD</searchLink>; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Genomics England, UK.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, UK.<br /><searchLink fieldCode="AU" term="%22Talbot-Martin+J%22">Talbot-Martin J</searchLink>; Department of Bioengineering, Imperial College London, UK.<br /><searchLink fieldCode="AU" term="%22Wieder+N%22">Wieder N</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.<br /><searchLink fieldCode="AU" term="%22D'Souza+EN%22">D'Souza EN</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Fernandes+M%22">Fernandes M</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Hilton+S%22">Hilton S</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Lahiri+N%22">Lahiri N</searchLink>; St George's, University of London & St George's University Hospitals NHS Foundation Trust, Institute of Molecular and Clinical Sciences, London, SW17 0QT, UK.<br /><searchLink fieldCode="AU" term="%22Campbell+C%22">Campbell C</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Jenkinson+S%22">Jenkinson S</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22DeGoede+CGEL%22">DeGoede CGEL</searchLink>; Department of Paediatric Neurology, Clinical research Facility, Lancashire Teaching Hospitals NHS Trust.; Manchester Metropolitan University.<br /><searchLink fieldCode="AU" term="%22Anderson+ER%22">Anderson ER</searchLink>; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Burge+CB%22">Burge CB</searchLink>; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA.<br /><searchLink fieldCode="AU" term="%22Sanders+SJ%22">Sanders SJ</searchLink>; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ellingford+J%22">Ellingford J</searchLink>; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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        Value: 10.1101/2023.09.12.23295416
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