Figure 3.
Comparison of quality scores on pCNVs of closely related Estonian samples
Consensus-based (cQS)19 and omics-informed (OQS) CNV quality scores of non-familial and familial (found in two or more family members) deletions (yellow) and duplications (blue) calculated on a subset of Estonian OmniExpress samples (n = 504; do not overlap with EstBB-MO). Familial pCNVs are likely true positives, while non-familial group contains both true and false positives. We included rare (frequency <0.1%, striped background) familiar pCNVs as a subset of CNVs less likely to validate in a relative by chance. The mean score of each pCNV group and their pairwise difference are shown on top of the figure. Compared with cQS, the OQS shows higher values for familial pCNVs and larger differences between non-familial and familial pCNV quality. All differences for both scores are significant with p < 1 × 10−16 (Wilcoxon test).