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Automated reanalysis of genomic data for rare disease diagnostics at scale.

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Title: Automated reanalysis of genomic data for rare disease diagnostics at scale.
Authors: Welland MJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Ahlquist KD; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Austin-Tse C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bryen S; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Franklin M; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Morrison C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Hall G; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gauthier L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bloemendal A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Francis DI; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Mallett AJ; Townsville Hospital and Health Service, Townsville, Queensland, Australia.; College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.; Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Mallawaarachchi A; Clinical Genetics Service, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia., Leventer R; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia., Scheffer IE; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia., Howell KB; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, 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., Scott HS; 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, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia., Thompson BA; Department of Pathology, Royal Melbourne Hospital, Melbourne, Victoria, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Smith G; Microsoft Research, Redmond, WA, USA., O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia., Wander J; Microsoft Research, Redmond, WA, USA., Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, 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.; 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] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.
Publication Type: Journal Article
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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IllustrationInfo
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  Data: Automated reanalysis of genomic data for rare disease diagnostics at scale.
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  Data: <searchLink fieldCode="AU" term="%22Welland+MJ%22">Welland MJ</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ahlquist+KD%22">Ahlquist KD</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22De+Fazio+P%22">De Fazio P</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; 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Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Leventer+R%22">Leventer R</searchLink>; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Kassahn+KS%22">Kassahn KS</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; 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, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22McGaughran+J%22">McGaughran J</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Thorburn+DR%22">Thorburn DR</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Thompson+BA%22">Thompson BA</searchLink>; Department of Pathology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Patel+CV%22">Patel CV</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+G%22">Smith G</searchLink>; Microsoft Research, Redmond, WA, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; 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University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.
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