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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

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Title: Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Authors: Martin-Geary AC; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK. alex.geary@well.ox.ac.uk.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. alex.geary@well.ox.ac.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, M13 9WL, UK., Dawes R; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK., Findlay SD; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Lord J; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Dong S; 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., Walker S; Genomics England, Level 21, One Canada Square, Canada Square, Canary Wharf, London, E14 5AB, UK., Talbot-Martin J; Department of Bioengineering, Imperial College London, London, UK, SW7 2AZ., Wieder N; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK., D'Souza EN; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK., Fernandes M; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK., Hilton S; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Lahiri N; Institute of Molecular and Clinical Sciences, St George's, University of London & St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK., Campbell C; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Jenkinson S; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., DeGoede CGEL; Department of Paediatric Neurology, Clinical research Facility, Lancashire Teaching Hospitals NHS Trust, Lancashire, PR2 9HT, UK.; Manchester Metropolitan University, Manchester, M15 6BH, UK., Anderson ER; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK., Candler T; Department of Paediatric Endocrinology and Diabetes, Education Centre, Bristol Royal Hospital for Children, Level 6 Upper Maudlin Street, Bristol, BS2 8BJ, UK.; Clinical Diet and Physical Activity Theme, NIHR Bristol Biomedical Research Centre, University of Bristol, Bristol, BS8 2BN, UK., Firth H; Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.; Wellcome Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; University of Cambridge, Cambridge, CB2 1TN, UK., Burge CB; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, 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, NY 10013, 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, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Baralle D; Genomics England, Level 21, One Canada Square, Canada Square, Canary Wharf, London, E14 5AB, UK., Banka S; 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, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Whiffin N; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK. nwhiffin@well.ox.ac.uk.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. nwhiffin@well.ox.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, MA 02142, USA. nwhiffin@well.ox.ac.uk.
Source: Genome medicine [Genome Med] 2025 Apr 14; Vol. 17 (1), pp. 40. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematic identification of disease-causing promoter and untranslated region variants in 8040 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, Old Road Campus, Oxford, OX3 7LF, UK. alex.geary@well.ox.ac.uk.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. alex.geary@well.ox.ac.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, M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Dawes+R%22">Dawes R</searchLink>; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.<br /><searchLink fieldCode="AU" term="%22Findlay+SD%22">Findlay SD</searchLink>; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK.<br /><searchLink fieldCode="AU" term="%22Dong+S%22">Dong S</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.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, Level 21, One Canada Square, Canada Square, Canary Wharf, London, E14 5AB, UK.<br /><searchLink fieldCode="AU" term="%22Talbot-Martin+J%22">Talbot-Martin J</searchLink>; Department of Bioengineering, Imperial College London, London, UK, SW7 2AZ.<br /><searchLink fieldCode="AU" term="%22Wieder+N%22">Wieder N</searchLink>; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.<br /><searchLink fieldCode="AU" term="%22D'Souza+EN%22">D'Souza EN</searchLink>; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.<br /><searchLink fieldCode="AU" term="%22Fernandes+M%22">Fernandes M</searchLink>; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.<br /><searchLink fieldCode="AU" term="%22Hilton+S%22">Hilton S</searchLink>; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Lahiri+N%22">Lahiri N</searchLink>; Institute of Molecular and Clinical Sciences, St George's, University of London & St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK.<br /><searchLink fieldCode="AU" term="%22Campbell+C%22">Campbell C</searchLink>; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Jenkinson+S%22">Jenkinson S</searchLink>; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, 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, Lancashire, PR2 9HT, UK.; Manchester Metropolitan University, Manchester, M15 6BH, UK.<br /><searchLink fieldCode="AU" term="%22Anderson+ER%22">Anderson ER</searchLink>; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK.<br /><searchLink fieldCode="AU" term="%22Candler+T%22">Candler T</searchLink>; Department of Paediatric Endocrinology and Diabetes, Education Centre, Bristol Royal Hospital for Children, Level 6 Upper Maudlin Street, Bristol, BS2 8BJ, UK.; Clinical Diet and Physical Activity Theme, NIHR Bristol Biomedical Research Centre, University of Bristol, Bristol, BS8 2BN, UK.<br /><searchLink fieldCode="AU" term="%22Firth+H%22">Firth H</searchLink>; Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.; Wellcome Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; University of Cambridge, Cambridge, CB2 1TN, UK.<br /><searchLink fieldCode="AU" term="%22Burge+CB%22">Burge CB</searchLink>; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, 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, NY 10013, 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, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Genomics England, Level 21, One Canada Square, Canada Square, Canary Wharf, London, E14 5AB, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</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, M13 9WL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Big Data Institute, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK. nwhiffin@well.ox.ac.uk.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. nwhiffin@well.ox.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, MA 02142, USA. nwhiffin@well.ox.ac.uk.
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