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Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

BACKGROUND: Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. High specificity is needed for clinically acceptable positive predictive values. M...

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Detalles Bibliográficos
Autores principales:	Kaseniit, Kristjan Eerik, Hogan, Gregory J, D’Auria, Kevin M, Haverty, Carrie, Muzzey, Dale
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194617/ https://www.ncbi.nlm.nih.gov/pubmed/30340588 http://dx.doi.org/10.1186/s12920-018-0410-6

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