Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

The American Journal of Human Genetics - Tập 109 - Trang 1960-1973 - 2022
Emma Tudini1,2, James Andrews1,3, David M. Lawrence3, Sarah L. King-Smith1,4, Naomi Baker5,6, Leanne Baxter7, John Beilby8,9, Bruce Bennetts10,11, Victoria Beshay12, Michael Black13, Tiffany F. Boughtwood1,14, Kristian Brion7, Pak Leng Cheong15,16, Michael Christie17, John Christodoulou1,11,14,18, Belinda Chong5, Kathy Cox4, Mark R. Davis13,19, Lucas Dejong4, Marcel E. Dinger20
1Australian Genomics, Melbourne, VIC 3052, Australia
2Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia
3Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia
4Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia
5Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC 3052, Australia
6University of Melbourne, Melbourne, VIC 3052, Australia
7Pathology Queensland, Brisbane, QLD 4006, Australia
8PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia
9School of Biomedical Sciences, The University of Western Australia, Perth, WA 6009, Australia
10Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia
11Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia
12Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia
13Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia
14Murdoch Children’s Research Institute, Melbourne, VIC 3052, Australia
15Department of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia
16University of Sydney, Sydney, NSW 2006, Australia
17Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia
18Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia
19Centre for Medical Research, The University of Western Australia, Perth, WA 6009, Australia
20School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia

Tài liệu tham khảo

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The American Journal of Human Genetics

Tập 109

1960-1973

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