Skip to main content
Fig. 1 | BMC Medical Genomics

Fig. 1

From: Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

Fig. 1

Isolating the effect on z-scores of mCNVs, a common source of NIPS false positives. For euploid (a), trisomic (b), and mCNV-harboring (c) samples on chromosome 18, the copy-number values in tiled 20 kb bins (see Methods) shown at left for the sample of interest (teal) and background samples (black). Shown in the middle of each panel is the average copy-number across all bins, which contributes to the z-score distribution shown at right. In (c), the average and z-score are calculated in the presence and absence of the mCNV; the mCNV-specific z-score gain defines ∆zdup

Back to article page