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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...
Autores principales: | Duboc, Véronique, Pratella, David, Milanesio, Marco, Boudjarane, John, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Bottini, Silvia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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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 |
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