Fig. 3

Cross-technology support relation to quality cues. A. Cross-technology data evidence collection. For each CNVR in arrays, long- and short read set, the raw data in all three technologies is assayed for evidence of support. Array signal in the probes within CNVR is compared to the flanking regions, resulting in a distance metric; Read depth fold change score is used as evidence for the short-read data; Long-read data is assayed as shown on the dot plots, for evidence of genotypes. B. Normalized density plot with the array-based support score on x-axis (the score represents the distance between LRR distribution of the probes in the CNV versus flanking regions, the larger the distance, the more support for a CNV), split by DFC score bins (High and Low Quality) and colored by technologies; C. The violin plots showing distribution of array-based support score for CNVRs grouped by support derived from assaying the long-read data, with “concordant” group denoting CNVRs, for which the long reads indicated concordance with the presence of the variant, while for the “discordant” group the was no such support from the long-read data