Figure 2. Theoretical and observed coverage of the 132-gene Diagnostic Region of Interest (DxROI): base percentage of the DxROI of the 132 genes targeted by any of the panels and the exome, covered by the three different sequencing strategies.

(a) Theoretical coverage. Percentage coverage of the DxROI for each gene is obtained by comparing the designed target regions, as provided by each manufacturer (TSCP and WES) or aimed for in the I2HCP design. (b) Observed coverage. Percentage of DxROI bases of each gene effectively covered at a read depth ≥30x (C30) by each strategy; the median of the 24 samples is shown.