Fig. 3

Example of DeviCNV plots. Predicted read-depth ratios (observed read depth/predicted read depth) of probes on a panel plotted on a log₂ scale for each sample: a the whole-genome view plot depicts all probes on a panel, and b the gene-centric view plot depicts the probes within a gene. Each point represents the read-depth ratio for each probe, and its shape indicates the pool or an assessment of faulty or low-quality types that are classified when building the linear regression models. The color of each point shows the p-value for duplications and deletions (the thresholds are set at 1.3 and 0.7, thin black dotted lines). The whiskers represent the 95% confidence interval for the read-depth ratio. This is an example of a multi-exon deletion within CYP21A2 found in a cell line using the inherited metabolic disorder panel and the hybridization capture approach