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

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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Bibliographic Details
Main Authors: Priit Paluoja, Hindrek Teder, Amin Ardeshirdavani, Baran Bayindir, Joris Vermeesch, Andres Salumets, Kaarel Krjutškov, Priit Palta
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-12-01
Series:PLoS Computational Biology
Online Access:https://doi.org/10.1371/journal.pcbi.1009684

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