Association analyses of rare variants identify two genes associated with refractive error

• Karina Patasova ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Formal analysis, Writing – original draft

  Affiliations Department of Ophthalmology, King’s College London, London, United Kingdom, Department of Twins Research and Genetic Epidemiology, King’s College London, London, United Kingdom

  https://orcid.org/0000-0002-6568-4373

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• Annechien E. G. Haarman ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Validation, Writing – review & editing

  Affiliations Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands, Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands

  https://orcid.org/0000-0002-1452-5700

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• Anthony M. Musolf ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Validation, Writing – review & editing

  Affiliation Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States of America

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• Omar A. Mahroo,

  Roles Writing – review & editing

  Affiliations Department of Ophthalmology, King’s College London, London, United Kingdom, Department of Twins Research and Genetic Epidemiology, King’s College London, London, United Kingdom, NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology, London, United Kingdom, Department of Ophthalmology, St Thomas’ Hospital, Guys and St ’Thomas’ NHS Foundation Trust, London, United Kingdom, Institute of Ophthalmology, University College London, London, United Kingdom

  https://orcid.org/0000-0003-1254-0832

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• Jugnoo S. Rahi,

  Roles Conceptualization, Investigation, Writing – review & editing

  Affiliations UCL Great Ormond Street Hospital Institute of Child Health, London, United Kingdom, Ulverscroft Vision Research Group, University College London, London, United Kingdom

  https://orcid.org/0000-0002-5718-9209

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• Mario Falchi,

  Roles Investigation, Methodology, Supervision

  Affiliation Department of Twins Research and Genetic Epidemiology, King’s College London, London, United Kingdom

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• Virginie J. M. Verhoeven,

  Roles Writing – review & editing

  Affiliations Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands, Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands

  https://orcid.org/0000-0001-7359-7862

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• Joan E. Bailey-Wilson,

  Roles Investigation, Methodology, Writing – review & editing

  Affiliation Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States of America

  https://orcid.org/0000-0002-9153-2920

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• Caroline C. W. Klaver,

  Roles Supervision, Writing – review & editing

  Affiliations Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands, Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands, Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands

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• Priya Duggal,

  Roles Writing – review & editing

  Affiliation Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States of America

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• Alison Klein,

  Roles Resources, Writing – review & editing

  Affiliations Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States of America, Department of Oncology, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins University, Baltimore, Maryland, United States of America, Department of Pathology, Johns Hopkins School of Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America

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• Jeremy A. Guggenheim ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Investigation, Supervision, Validation, Writing – review & editing

  Affiliation School of Optometry & Vision Sciences, Cardiff University, Cardiff, United Kingdom

  https://orcid.org/0000-0001-5164-340X

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• Chris J. Hammond ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Conceptualization, Investigation, Methodology, Resources, Writing – review & editing

  Affiliations Department of Ophthalmology, King’s College London, London, United Kingdom, Department of Twins Research and Genetic Epidemiology, King’s College London, London, United Kingdom

  https://orcid.org/0000-0002-3227-2620

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• Pirro G. Hysi ,

  Contributed equally to this work with: Karina Patasova, Annechien E. G. Haarman, Anthony M. Musolf, Jeremy A. Guggenheim, Chris J. Hammond, Pirro G. Hysi

  Roles Conceptualization, Investigation, Methodology, Resources, Writing – review & editing

  * E-mail: pirro.hysi@kcl.ac.uk

  Affiliations Department of Ophthalmology, King’s College London, London, United Kingdom, Department of Twins Research and Genetic Epidemiology, King’s College London, London, United Kingdom, UCL Great Ormond Street Hospital Institute of Child Health, London, United Kingdom

  https://orcid.org/0000-0001-5752-2510

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• the CREAM Consortium; the UK Biobank Eye; Vision Consortium

  ¶Membership of the CREAM Consortium and the UK Biobank Eye and Vision Consortium is provided in the Acknowledgments.

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