Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples

INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deleti...

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Detalles Bibliográficos
Autores principales: Ravi, Harini, McNeill, Gabriel, Goel, Shruti, Meltzer, Steven D., Hunkapiller, Nathan, Ryan, Allison, Levy, Brynn, Demko, Zachary P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825123/
https://www.ncbi.nlm.nih.gov/pubmed/29474437
http://dx.doi.org/10.1371/journal.pone.0193476

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