Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
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https://www.omicsdi.org/dataset/ega/EGAS00001005323
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资源简介：
Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no comprehensive and direct accuracy evaluations of these tools is published. Here, we evaluate and determine the precision of five commonly used computational NIPT aneuploidy analysis tools, considering diverse sequencing depth (coverage), arbitrary sequencing read placement, and fetal DNA fraction on clinically validated NIPT samples.EGA study EGAS00001005323
创建时间：
2021-07-01
