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Integrated multi-omics for rapid rare disease diagnosis on a national scale.

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Title: Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Authors: Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia., Bouffler SE; Australian Genomics, Melbourne, Victoria, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Sandaradura SA; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Wilson M; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia., Kamien B; Genetic Services of Western Australia, Perth, Western Australia, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Ha T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Jackson MR; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Scott HS; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rowley S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Boggs K; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Rakonjac A; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., de Silva MG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Springer A; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Ward M; Genetic Services of Western Australia, Perth, Western Australia, Australia., Stallard K; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Simons C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Conway T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Halman A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Van Bergen NJ; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sikora T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Semcesen LN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Stroud DA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bell KM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., North KN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Christodoulou J; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.
Source: Nature medicine [Nat Med] 2023 Jul; Vol. 29 (7), pp. 1681-1691. Date of Electronic Publication: 2023 Jun 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
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