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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

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Title: Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Authors: Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com., Minoche AE; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Schofield D; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Shrestha R; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia., Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Zhu Y; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Drew A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Elakis G; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Walsh C; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Adès LC; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Colley A; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ellaway C; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia., Freckmann ML; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia., Goodwin L; Genetics Services, Nepean Hospital, Sydney, NSW, Australia., Hackett A; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Kamien B; Hunter Genetics, Newcastle, NSW, Australia., Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Lipke M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Queensland Children's Hospital, Brisbane, QLD, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Palmer E; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Rajagopalan S; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Ronan A; Hunter Genetics, Newcastle, NSW, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Stevenson W; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Worgan L; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia., Morel-Kopp MC; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia., Field M; The Genetics of Learning Disability Service, Newcastle, NSW, Australia., Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia., Cowley MJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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  Data: Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
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  Data: <searchLink fieldCode="AU" term="%22Ewans+LJ%22">Ewans LJ</searchLink>; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. lisa.ewans@gmail.com.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. lisa.ewans@gmail.com.<br /><searchLink fieldCode="AU" term="%22Minoche+AE%22">Minoche AE</searchLink>; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Schofield+D%22">Schofield D</searchLink>; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Shrestha+R%22">Shrestha R</searchLink>; Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Puttick+C%22">Puttick C</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Zhu+Y%22">Zhu Y</searchLink>; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Drew+A%22">Drew A</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Gayevskiy+V%22">Gayevskiy V</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Elakis+G%22">Elakis G</searchLink>; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Walsh+C%22">Walsh C</searchLink>; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Adès+LC%22">Adès LC</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Colley+A%22">Colley A</searchLink>; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ellaway+C%22">Ellaway C</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Evans+CA%22">Evans CA</searchLink>; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Goodwin+L%22">Goodwin L</searchLink>; Genetics Services, Nepean Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Hackett+A%22">Hackett A</searchLink>; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kamien+B%22">Kamien B</searchLink>; Hunter Genetics, Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kirk+EP%22">Kirk EP</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Lipke+M%22">Lipke M</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Queensland Children's Hospital, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Mowat+D%22">Mowat D</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Palmer+E%22">Palmer E</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Rajagopalan+S%22">Rajagopalan S</searchLink>; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ronan+A%22">Ronan A</searchLink>; Hunter Genetics, Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sachdev+R%22">Sachdev R</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Stevenson+W%22">Stevenson W</searchLink>; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Turner+A%22">Turner A</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Wilson+M%22">Wilson M</searchLink>; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Worgan+L%22">Worgan L</searchLink>; Clinical Genetics Department, Liverpool Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Morel-Kopp+MC%22">Morel-Kopp MC</searchLink>; Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney, Sydney, NSW, Australia.; Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Field+M%22">Field M</searchLink>; The Genetics of Learning Disability Service, Newcastle, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Buckley+MF%22">Buckley MF</searchLink>; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Cowley+MJ%22">Cowley MJ</searchLink>; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Dinger+ME%22">Dinger ME</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.dinger@unsw.edu.au.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia. m.dinger@unsw.edu.au.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia. tony.roscioli@health.nsw.gov.au.; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia. tony.roscioli@health.nsw.gov.au.
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