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Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction.

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Title: Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction.
Authors: He W; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia., Võsa U; Department of Genetics, University Medical Centre Groningen Medical Faculty building (building 3211) 5th floor, Antonius Deusinglaan 1 9713 AV Groningen, The Netherlands.; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia., Palumaa T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia.; Eye Clinic, East Tallinn Central Hospital, Ravi street 18, 10138 Tallinn, Estonia.; Department of Ophthalmology, Emory University, 201 Dowman Dr NE, Atlanta, GA 30322, United States., Ong JS; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia., Torres SD; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool St, Hobart Tasmania 7000, Australia.; Centre for Eye Research Australia, University of Melbourne, Peter Howson Wing, Level 7, 32 Gisborne Street, Melbourne East Victoria 3002, Australia., Mackey DA; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, 2 Verdun Street, Nedlands, Western Australia 6009, Australia., Gharahkhani P; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.; Faculty of Health, School of Biomedical Sciences, Queensland University of Technology, R Block, Kelvin Grove Campus Victoria Park Road, Kelvin Grove, Queensland 4059, Australia., Esko T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia., MacGregor S; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.
Source: Human molecular genetics [Hum Mol Genet] 2025 Jan 29; Vol. 34 (2), pp. 140-147.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22He+W%22">He W</searchLink>; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.<br /><searchLink fieldCode="AU" term="%22Võsa+U%22">Võsa U</searchLink>; Department of Genetics, University Medical Centre Groningen Medical Faculty building (building 3211) 5th floor, Antonius Deusinglaan 1 9713 AV Groningen, The Netherlands.; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Palumaa+T%22">Palumaa T</searchLink>; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia.; Eye Clinic, East Tallinn Central Hospital, Ravi street 18, 10138 Tallinn, Estonia.; Department of Ophthalmology, Emory University, 201 Dowman Dr NE, Atlanta, GA 30322, United States.<br /><searchLink fieldCode="AU" term="%22Ong+JS%22">Ong JS</searchLink>; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.<br /><searchLink fieldCode="AU" term="%22Torres+SD%22">Torres SD</searchLink>; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.<br /><searchLink fieldCode="AU" term="%22Hewitt+AW%22">Hewitt AW</searchLink>; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool St, Hobart Tasmania 7000, Australia.; Centre for Eye Research Australia, University of Melbourne, Peter Howson Wing, Level 7, 32 Gisborne Street, Melbourne East Victoria 3002, Australia.<br /><searchLink fieldCode="AU" term="%22Mackey+DA%22">Mackey DA</searchLink>; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, 2 Verdun Street, Nedlands, Western Australia 6009, Australia.<br /><searchLink fieldCode="AU" term="%22Gharahkhani+P%22">Gharahkhani P</searchLink>; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.; Faculty of Health, School of Biomedical Sciences, Queensland University of Technology, R Block, Kelvin Grove Campus Victoria Park Road, Kelvin Grove, Queensland 4059, Australia.<br /><searchLink fieldCode="AU" term="%22Esko+T%22">Esko T</searchLink>; Estonian Genome Centre, Institute of Genomics, University of Tartu, Riia 23b, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22MacGregor+S%22">MacGregor S</searchLink>; QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, St Lucia, Queensland 4072, Australia.
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        Value: 10.1093/hmg/ddae157
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        Text: English
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              Text: 2025 Jan 29
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