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GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies

Non-invasive prenatal testing (NIPT) screens for common fetal chromosomal abnormalities through analysis of circulating cell-free DNA in maternal blood by massive parallel sequencing. NIPT reliability relies on both the estimation of the fetal fraction (ff) and on the sequencing depth (sd) but how t...

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Detalles Bibliográficos
Autores principales:	Pratella, David, Duboc, Véronique, Milanesio, Marco, Boudjarane, John, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Bottini, Silvia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Research Network of Computational and Structural Biotechnology 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8881690/ https://www.ncbi.nlm.nih.gov/pubmed/35242293 http://dx.doi.org/10.1016/j.csbj.2022.02.014

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