Phenogenon: Gene to phenotype associations for rare genetic diseases

• Nikolas Pontikos ,

  Contributed equally to this work with: Nikolas Pontikos, Cian Murphy, Ismail Moghul

  Roles Conceptualization, Data curation, Investigation, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing

  Affiliations UCL Genetics Institute, University College London, London, United Kingdom, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

  http://orcid.org/0000-0003-1782-4711

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• Cian Murphy ,

  Contributed equally to this work with: Nikolas Pontikos, Cian Murphy, Ismail Moghul

  Roles Formal analysis, Investigation, Writing – original draft, Writing – review & editing

  Affiliations UCL Genetics Institute, University College London, London, United Kingdom, Warwick Medical School, University of Warwick, Coventry, United Kingdom

  http://orcid.org/0000-0003-1356-959X

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• Ismail Moghul ,

  Contributed equally to this work with: Nikolas Pontikos, Cian Murphy, Ismail Moghul

  Roles Formal analysis, Investigation, Software, Visualization, Writing – original draft, Writing – review & editing

  Affiliation UCL Cancer Institute, University College London, London, United Kingdom

  http://orcid.org/0000-0003-3653-2327

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• Gavin Arno,

  Roles Writing – review & editing

  Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

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• Kaoru Fujinami,

  Roles Resources

  Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan

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• Yu Fujinami,

  Roles Resources

  Affiliations Graduate School of Health Management, Keio University, Tokyo, Japan, Division of Public Health, Yokokawa Clinic, Osaka, Japan

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• Dayyanah Sumodhee,

  Roles Writing – review & editing

  Affiliation Queen Mary University, Mile End Road, Bethnal Green, London, United Kingdom

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• Susan Downes,

  Roles Resources

  Affiliations Oxford Eye Hospital, West Wing, John Radcliffe Hospital, Oxford, United Kingdom, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom

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• Andrew Webster,

  Roles Resources, Writing – review & editing

  Affiliations Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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• Jing Yu ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: jing.yu@ndcn.ox.ac.uk

  Affiliation Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom

  http://orcid.org/0000-0001-8001-8494

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• UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

  ¶Membership of the UK Inherited Retinal Dystrophy Consortium and Phenopolis Consortium is provided in the Acknowledgments.

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