Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

• Ozvan Bocher ,

  Roles Conceptualization, Formal analysis, Methodology, Software, Writing – original draft, Writing – review & editing

  * E-mail: bocherozvan@gmail.com

  Affiliations Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France, Institute of Translational Genomics, Helmholtz Zentrum München, Munich, Germany

  https://orcid.org/0000-0002-2467-9236

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• Thomas E. Ludwig,

  Roles Software, Writing – review & editing

  Affiliations Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France, CHU Brest, Brest, France

  https://orcid.org/0000-0002-9996-1084

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• Marie-Sophie Oglobinsky,

  Roles Formal analysis

  Affiliation Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France

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• Gaëlle Marenne,

  Roles Software, Writing – review & editing

  Affiliation Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France

  https://orcid.org/0000-0002-4363-7170

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• Jean-François Deleuze,

  Roles Funding acquisition, Resources

  Affiliation Centre National de Recherche en Génomique Humaine CNRGH, Institut de Biologie François Jacob, Université Paris Saclay, CEA, Evry, France

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• Suryakant Suryakant,

  Roles Formal analysis

  Affiliation University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team ELEANOR, UMR 1219, Bordeaux, France

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• Jacob Odeberg,

  Roles Resources

  Affiliations Science for Life Laboratory, Department of Protein Science, CBH, KTH Royal Institute of Technology, Stockholm, Sweden, Department of Clinical Medicine, Faculty of Health Science, The Arctic University of Tromsö, Tromsö, Norway

  https://orcid.org/0000-0003-0996-1644

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• Pierre-Emmanuel Morange,

  Roles Funding acquisition, Investigation, Project administration, Writing – review & editing

  Affiliation Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France

  https://orcid.org/0000-0002-9065-722X

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• David-Alexandre Trégouët,

  Roles Formal analysis, Funding acquisition, Project administration, Writing – original draft, Writing – review & editing

  Affiliation University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team ELEANOR, UMR 1219, Bordeaux, France

  https://orcid.org/0000-0001-9084-7800

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• Hervé Perdry,

  Roles Conceptualization, Software, Writing – review & editing

  Affiliation CESP Inserm, U1018, UFR Médecine, Univ Paris-Sud, Université Paris-Saclay, Villejuif, France

  https://orcid.org/0000-0001-7570-1678

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• Emmanuelle Génin

  Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing

  Affiliations Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France, CHU Brest, Brest, France

  https://orcid.org/0000-0003-4117-2813

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