A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

• Lydia Sagath ,

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

  * E-mail: lydia.sagath@helsinki.fi, (LS); kirsi.kiiski@helsinki.fi (KK)

  Affiliations Folkhälsan Research Center, Helsinki, Finland, Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

  https://orcid.org/0000-0002-6754-3830

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• Vilma-Lotta Lehtokari,

  Roles Conceptualization, Project administration, Writing – review & editing

  Affiliations Folkhälsan Research Center, Helsinki, Finland, Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

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• Carina Wallgren-Pettersson,

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

  Affiliations Folkhälsan Research Center, Helsinki, Finland, Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

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• Katarina Pelin,

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

  Affiliations Folkhälsan Research Center, Helsinki, Finland, Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland, Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland

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• Kirsi Kiiski

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

  * E-mail: lydia.sagath@helsinki.fi, (LS); kirsi.kiiski@helsinki.fi (KK)

  Affiliations Folkhälsan Research Center, Helsinki, Finland, Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

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