Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies

• Jacqueline Chan,

  Roles Supervision, Validation, Writing – review & editing

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

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• Jolyon Holdstock,

  Roles Project administration, Writing – review & editing

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• John Shovelton,

  Roles Software

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• James Reid,

  Roles Methodology, Validation

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• Graham Speight,

  Roles Supervision, Writing – review & editing

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• Duarte Molha,

  Roles Methodology

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• Venu Pullabhatla,

  Roles Methodology

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

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• Stephanie Carpenter,

  Roles Validation

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

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• Ezam Uddin,

  Roles Validation

  Affiliation Oxford Gene Technology Operations Limited, Kidlington, Oxfordshire, United Kingdom

  ⨯
• Takanori Washio,

  Roles Conceptualization, Software, Writing – review & editing

  Affiliations Life Innovation Center, Riken Genesis Co. LTD, Kawasaki, Kanagawa, Japan, Division of Clinical Cancer Genomics, Hokkaido University Hospital, Sapporo, Hokkaido, Japan

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• Hiroko Sato,

  Roles Project administration, Validation

  Affiliation Life Innovation Center, Riken Genesis Co. LTD, Kawasaki, Kanagawa, Japan

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• Yuuki Izumi,

  Roles Software, Writing – review & editing

  Affiliation Technology Innovation, Sysmex Corporation, Kobe, Hyogo, Japan

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• Reiko Watanabe,

  Roles Conceptualization, Supervision

  Affiliation Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan

  ⨯
• Hayato Niiro,

  Roles Conceptualization, Supervision, Writing – review & editing

  Affiliation Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan

  ⨯
• Yoshiyuki Fukushima,

  Roles Validation, Writing – review & editing

  Affiliation Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan

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• Naoko Ashida,

  Roles Project administration, Writing – original draft, Writing – review & editing

  Affiliation Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan

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• Takashi Hirose,

  Roles Supervision, Validation, Writing – original draft

  Affiliation Medical & Scientific Affairs, Sysmex Corporation, Kobe, Hyogo, Japan

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•  [ ... ],
• Akiko Maeda

  Roles Conceptualization, Supervision, Writing – review & editing

  * E-mail: akiko.maeda@vcct.jp

  Affiliation Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Hyogo, Japan

  https://orcid.org/0009-0009-5935-1183

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