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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs

Fig. 2

Accuracy evaluation of LP GS in the detection of mosaic aneuploidies and CNVs in simulated samples and virtual samples. (A) Differences (%) between the detected mosaic levels and the theoretical mosaic levels for 6 mosaic CNVs in 6 simulated samples. (B) Differences (%) between the mosaic levels of Y chromosome and the theoretical mosaic levels for 4 mosaic CNVs in 4 male simulated samples. (C) Differences (%) of the detected mosaic levels and the mosaic levels of Y chromosome for 6 mosaic aneuploidies and 15 mosaic CNVs in 21 virtual samples. ‘NA’ shows that the mosaic level was not detected in at least one of 3 downsampling samples at 35 M UAHRs.‘None’ shows that the number of UAHRs of the sample is less than 35 M.

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BMC Medical Genomics

ISSN: 1755-8794

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