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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1522-9645 |
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| DOI: | 10.1093/eurheartj/ehaf001 |
