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A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.

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Title: A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Authors: Butters A; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia., Thomson K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Harrington F; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand., Henden N; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand., McGuire K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Byrne AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bryen S; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., McGurk KA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK., Leask M; University of Otago, Dunedin, New Zealand., Ackerman MJ; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Atherton J; Department of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia., Bos JM; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Caleshu C; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.; Genome Medical, CA, USA., Day SM; Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA., Dunn K; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA., Hayes I; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand., Juang J; Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan., McGaughran J; Genetic Health Queensland, Brisbane, Australia.; University of Queensland School of Medicine, St Lucia Queensland, Brisbane, Australia., Nowak N; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Parikh VN; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA., Ronan A; Newcastle Medical Genetics, University of Newcastle, NSW, Australia., Semsarian C; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia., Tardiff JC; Department of Biomedical Engineering, University of Arizona, Tucson, AZ, USA., Tiemensma M; Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia., Merriman TR; University of Otago, Dunedin, New Zealand.; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA., Ware JS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust and the Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK., Skinner JR; The Cardiac Inherited Disease Group, Auckland, New Zealand.; Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.; Department of Paediatrics, Child and Youth Health, University of Auckland, New Zealand.; Heart Centre for Children, Sydney Children's Hospital Network, Sydney, NSW, Australia., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Siggs OM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia., Bagnall RD; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia., Ingles J; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
Source: European heart journal [Eur Heart J] 2025 Apr 15; Vol. 46 (15), pp. 1446-1449.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE; In Process
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  Data: A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
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  Data: <searchLink fieldCode="AU" term="%22Butters+A%22">Butters A</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Thomson+K%22">Thomson K</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Harrington+F%22">Harrington F</searchLink>; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Henden+N%22">Henden N</searchLink>; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22McGuire+K%22">McGuire K</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Byrne+AB%22">Byrne AB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bryen+S%22">Bryen S</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22McGurk+KA%22">McGurk KA</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Leask+M%22">Leask M</searchLink>; University of Otago, Dunedin, New Zealand.<br /><searchLink fieldCode="AU" term="%22Ackerman+MJ%22">Ackerman MJ</searchLink>; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Atherton+J%22">Atherton J</searchLink>; Department of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Bos+JM%22">Bos JM</searchLink>; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Caleshu+C%22">Caleshu C</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.; Genome Medical, CA, USA.<br /><searchLink fieldCode="AU" term="%22Day+SM%22">Day SM</searchLink>; Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Dunn+K%22">Dunn K</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.<br /><searchLink fieldCode="AU" term="%22Hayes+I%22">Hayes I</searchLink>; Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Juang+J%22">Juang J</searchLink>; Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22McGaughran+J%22">McGaughran J</searchLink>; Genetic Health Queensland, Brisbane, Australia.; University of Queensland School of Medicine, St Lucia Queensland, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Nowak+N%22">Nowak N</searchLink>; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Parikh+VN%22">Parikh VN</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.<br /><searchLink fieldCode="AU" term="%22Ronan+A%22">Ronan A</searchLink>; Newcastle Medical Genetics, University of Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Semsarian+C%22">Semsarian C</searchLink>; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Tardiff+JC%22">Tardiff JC</searchLink>; Department of Biomedical Engineering, University of Arizona, Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Tiemensma+M%22">Tiemensma M</searchLink>; Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia.<br /><searchLink fieldCode="AU" term="%22Merriman+TR%22">Merriman TR</searchLink>; University of Otago, Dunedin, New Zealand.; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Ware+JS%22">Ware JS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust and the Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Skinner+JR%22">Skinner JR</searchLink>; The Cardiac Inherited Disease Group, Auckland, New Zealand.; Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.; Department of Paediatrics, Child and Youth Health, University of Auckland, New Zealand.; Heart Centre for Children, Sydney Children's Hospital Network, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Siggs+OM%22">Siggs OM</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.<br /><searchLink fieldCode="AU" term="%22Bagnall+RD%22">Bagnall RD</searchLink>; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Ingles+J%22">Ingles J</searchLink>; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
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