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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Vydáno v:BMC Med Genomics
Hlavní autoři: Kaseniit, Kristjan Eerik, Hogan, Gregory J, D’Auria, Kevin M, Haverty, Carrie, Muzzey, Dale
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6194617/
https://ncbi.nlm.nih.gov/pubmed/30340588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0410-6
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