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Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal DNA is mixed with far-larger amounts of maternal DNA, NIPT requires a minimum fraction o...

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Detalles Bibliográficos
Autores principales:	Genovese, Giulio, Mello, Curtis J., Loh, Po-Ru, Handsaker, Robert E., Kashin, Seva, Whelan, Christopher W., Bayer-Zwirello, Lucy A., McCarroll, Steven A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283487/ https://www.ncbi.nlm.nih.gov/pubmed/35835769 http://dx.doi.org/10.1038/s41598-022-14049-5

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