Figure 2.

Overview of CNV quality metrics in EstBB-MO

(A and B) Omics-based metrics— WGS, MET, and GE—and cQS¹⁹ Pearson correlations for EstBB-MO deletions (A) and duplication (B). Note that the number of pCNVs used in correlation calculations is not identical in each group of metric pairs (Figure S9).

(C and D) Bimodal distribution of WGS, MET, and GE metrics (C), as well as their combined metric (see material and methods) (D) for duplications (blue) and deletions (yellow). The combined metric is calculated for pCNVs that have at least two omics-based metrics available (n = 3,496) and the fractions of high-confidence false (combined metric <0.1) and true (combined metric >0.9) calls are reported.