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

Author(s)
Butters, Alexandra
Thomson, Kate
Harrington, Franki
Henden, Natasha
McGuire, Karen
Byrne, Alicia B
Bryen, Samantha
McGurk, Kathryn A
Leask, Megan
Ackerman, Michael J
Atherton, John
Bos, Johan M
Caleshu, Colleen
Day, Sharlene M
Dunn, Kyla
Hayes, Ian
Juang, Jimmy
McGaughran, Julie
Nowak, Natalie
Parikh, Victoria N
Ronan, Anne
Semsarian, Christopher
Tardiff, Jil C
Tiemensma, Marianne
Merriman, Tony R
Ware, James S
Skinner, Jonathan R
MacArthur, Daniel G
Siggs, Owen M
Bagnall, Richard D
Ingles, Jodie
Publication Date
2025-03-05
Abstract
No abstract available
Affiliation
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.
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
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.
University of Otago, Dunedin, New Zealand.
Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Department of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia.
Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Genome Medical, CA, USA.
Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan.
Genetic Health Queensland, Brisbane, Australia.
University of Queensland School of Medicine, St Lucia Queensland, Brisbane, 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.
Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Newcastle Medical Genetics, University of Newcastle, NSW, Australia.
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.
Department of Biomedical Engineering, University of Arizona, Tucson, AZ, USA.
Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia.
University of Otago, Dunedin, New Zealand.
Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.
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.
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.
Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.
Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
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.
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.
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.
Citation
Eur Heart J . 2025 Mar 5:ehaf001. doi: 10.1093/eurheartj/ehaf001. Online ahead of print.
ISSN
1522-9645
OrcId
0000-0003-1626-4302
0000-0003-2807-3431
0000-0002-8141-1818
0000-0002-4140-8622
0000-0002-5445-6906
0000-0002-6110-5880
0000-0002-5771-2290
0000-0003-2840-4851
0000-0002-2476-9864
0000-0002-4846-7676
Pubmed ID
https://pubmed.ncbi.nlm.nih.gov/40038847/?otool=iaurydwlib
Link
Subject
Cardiomyopathy
Genomics
Population databases
Title
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Type of document
Journal Article
Entity Type
Publication

Files:

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