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

Paluoja, Priit; Teder, Hindrek; Ardeshirdavani, Amin; Bayindir, Baran; Vermeesch, Joris; Salumets, Andres; Krjutskov, Kaarel; Palta, Priit

Paluoja, Priit; Teder, Hindrek; Ardeshirdavani, Amin; Bayindir, Baran; Vermeesch, Joris; Salumets, Andres; Krjutskov, Kaarel; Palta, Priit.

Afiliação

Paluoja P; Doctoral Programme in Population Health, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Teder H; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Ardeshirdavani A; Competence Centre for Health Technologies, Tartu, Estonia.
Bayindir B; Competence Centre for Health Technologies, Tartu, Estonia.
Vermeesch J; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.
Salumets A; Department of Human Genetics, KU Leuven, Leuven, Belgium.
Krjutskov K; Department of Human Genetics, KU Leuven, Leuven, Belgium.
Palta P; Department of Human Genetics, KU Leuven, Leuven, Belgium.

PLoS Comput Biol ; 17(12): e1009684, 2021 12.

Article em En | MEDLINE | ID: mdl-34928946

Assuntos

Aneuploidia; Diagnóstico por Computador/métodos; Teste Pré-Natal não Invasivo/métodos; Software; Biologia Computacional; Feminino; Humanos; Gravidez; Sequenciamento Completo do Genoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Diagnóstico por Computador / Teste Pré-Natal não Invasivo / Aneuploidia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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