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

Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no prior comprehensive, head-to-head accuracy comparison...

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Detalles Bibliográficos
Autores principales:	Paluoja, Priit, Teder, Hindrek, Ardeshirdavani, Amin, Bayindir, Baran, Vermeesch, Joris, Salumets, Andres, Krjutškov, Kaarel, Palta, Priit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722721/ https://www.ncbi.nlm.nih.gov/pubmed/34928946 http://dx.doi.org/10.1371/journal.pcbi.1009684

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