BioinformaticsPLoS ONEPeer-reviewed
Non-invasive prenatal testing by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
Marcel Kucharík, Andrej Gnip, Michaela Hýblová…·Tomáš Szemes
This study evaluates the detection limits of chromosomal microdeletions in non-invasive prenatal testing using whole genome sequencing data and simulated datasets.
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