Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
Marcel Kucharík, Andrej Gnip, Michaela Hýblová, Jaroslav Budiš, Lucia Striešková, Mária Haršányová, Ondrej Pös, Zuzana Kubiritova, Ján Radvánszky, Gabriel Minárik, Tomáš Szemes
This study evaluates the detection limits of chromosomal microdeletions in non-invasive prenatal testing using whole genome sequencing data and simulated datasets.
PLoS ONE · Aug 26, 2020Peer-reviewedBioinformatics