Article
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.
The Journal of molecular diagnostics : JMD - 1 Sept 2015
van den Oever Jessica M E, van Minderhout Ivonne J H M, Harteveld Cornelis L, den Hollander Nicolette S, Bakker Egbert, van der Stoep Nienke, Boon Elles M J
Abstract excerpt
The challenge in noninvasive prenatal diagnosis for monogenic disorders lies in the detection of low levels of fetal variants in the excess of maternal cell-free plasma DNA. Next-generation sequencing, which is the main method used for noninvasive prenatal testing and diagnosis, can overcome this challenge. However, this method may not be accessible to all genetic laboratories. Moreover, shotgun next-generation...
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