Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes

• Ksenia G. Kuznetsova ,

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

  * E-mail: ksenia.kuznetsova@uib.no (KGK); marc.vaudel@uib.no (MV)

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

  https://orcid.org/0000-0001-7447-4047

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• Jakub Vašíček,

  Roles Methodology, Validation, Writing – review & editing

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

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• Dafni Skiadopoulou,

  Roles Methodology, Writing – review & editing

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway

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• Janne Molnes,

  Roles Data curation, Writing – review & editing

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

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• Miriam Udler,

  Roles Supervision, Writing – review & editing

  Affiliations Department of Medicine, Massachusetts General Hospital, Boston, MA, United States of America, Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States of America, Department of Medicine, Harvard Medical School, Boston, MA, United States of America

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• Stefan Johansson,

  Roles Supervision, Writing – review & editing

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

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• Pål Rasmus Njølstad,

  Roles Supervision

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway

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• Alisa Manning,

  Roles Supervision, Visualization, Writing – review & editing

  Affiliations Department of Medicine, Massachusetts General Hospital, Boston, MA, United States of America, Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States of America, Department of Medicine, Harvard Medical School, Boston, MA, United States of America

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• Marc Vaudel

  Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: ksenia.kuznetsova@uib.no (KGK); marc.vaudel@uib.no (MV)

  Affiliations Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen, Bergen, Norway, Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway, Department of Genetics and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway

  https://orcid.org/0000-0003-1179-9578

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