Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma

• Elena Milla ,

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

  * E-mail: millagrinoelena@gmail.com

  ¶‡ EM and JL contributed equally to this work and considered as first authors.

  Affiliations Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain, Innova Ocular-ICO, Barcelona, Spain

  https://orcid.org/0000-0002-5171-165X

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• Javier Laguna ,

  Roles Data curation, Investigation, Methodology, Validation, Writing – original draft

  ¶‡ EM and JL contributed equally to this work and considered as first authors.

  Affiliation Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, Barcelona, Spain

  https://orcid.org/0000-0003-0777-6998

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• Mª. Socorro Alforja,

  Roles Data curation, Investigation

  Affiliation Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain

  https://orcid.org/0000-0003-0800-3719

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• Beatriz Pascual,

  Roles Data curation, Formal analysis, Methodology

  Affiliation Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain

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• María José Gamundi,

  Roles Data curation, Formal analysis

  Affiliation Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain

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• Emma Borràs,

  Roles Data curation, Methodology

  Affiliation Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain

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• Imma Hernán,

  Roles Methodology

  Affiliation Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain

  https://orcid.org/0000-0002-7729-0961

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• María Jesús Muniesa,

  Roles Data curation

  Affiliation Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain

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• Marta Pazos,

  Roles Data curation

  Affiliation Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain

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• Susana Duch,

  Roles Data curation, Project administration

  Affiliation Innova Ocular-ICO, Barcelona, Spain

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• Miguel Carballo,

  Roles Formal analysis, Project administration, Writing – original draft

  Affiliation Molecular Genetics Unit, Hospital de Terrassa, Barcelona, Spain

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• Meritxell Jodar,

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

  Affiliations Department of Biochemistry and Molecular Genetics, CDB, Hospital Clínic de Barcelona, Barcelona, Spain, Department of Biomedicine, Faculty of Medicine and Biomedical Sciences, University of Barcelona, Barcelona, Spain

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• on behalf of the EMEIGG group

  ¶Spanish Multicentre Glaucoma Group (Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG), Spain. Complete membership of the author group can be found in the Acknowledgments.

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