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NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework

Noninvasive prenatal testing (NIPT) consists of determining fetal aneuploidies by quantifying copy number alteration from the sequencing of cell-free DNA (cfDNA) from maternal blood. Due to the presence of cfDNA of fetal origin in maternal blood, in silico approaches have been developed to accuratel...

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Detalles Bibliográficos
Autores principales: Duboc, Véronique, Pratella, David, Milanesio, Marco, Boudjarane, John, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Bottini, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8769708/
https://www.ncbi.nlm.nih.gov/pubmed/34529041
http://dx.doi.org/10.1093/bib/bbab380