Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples

• Priit Paluoja,

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

  Affiliations Doctoral Programme in Population Health, Faculty of Medicine, University of Helsinki, Helsinki, Finland, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia, Competence Centre for Health Technologies, Tartu, Estonia

  https://orcid.org/0000-0002-2016-661X

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• Hindrek Teder,

  Roles Data curation, Writing – review & editing

  Affiliations Competence Centre for Health Technologies, Tartu, Estonia, Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia

  https://orcid.org/0000-0001-6608-7979

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• Amin Ardeshirdavani,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Human Genetics, KU Leuven, Leuven, Belgium

  https://orcid.org/0000-0002-7226-7324

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• Baran Bayindir,

  Roles Formal analysis, Writing – review & editing

  Affiliation Department of Human Genetics, KU Leuven, Leuven, Belgium

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• Joris Vermeesch,

  Roles Conceptualization, Resources, Writing – review & editing

  Affiliation Department of Human Genetics, KU Leuven, Leuven, Belgium

  https://orcid.org/0000-0002-3071-1191

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• Andres Salumets,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliations Competence Centre for Health Technologies, Tartu, Estonia, Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia, Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden

  https://orcid.org/0000-0002-1251-8160

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• Kaarel Krjutškov,

  Roles Conceptualization, Supervision, Writing – review & editing

  Affiliations Competence Centre for Health Technologies, Tartu, Estonia, Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia

  https://orcid.org/0000-0003-1297-1464

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• Priit Palta

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: priit.palta@gmail.com

  Affiliations Competence Centre for Health Technologies, Tartu, Estonia, Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia, Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland

  https://orcid.org/0000-0001-9320-7008

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