Fig. 5
From: Achieving high-sensitivity for clinical applications using augmented exome sequencing
Disease-associated variants covered at ≥20× for 56 genes in the ACMG gene list. The x-axis labels indicate the total number of disease-associated SNVs (daSNVs) drawn from HGMD for each ACMG gene; and the y-axis indicates the percentage of those variants covered at ≥20×. For brevity, only the highest obtained percentage (Max over all WES) observed across all conventional WES (SS, SSCR, NX, NG) platforms is shown. Seventeen of the 56 genes failed to have some fraction of their daSNVs covered at ≥20× among any of the conventional WES platforms. On a gene basis, the platforms with the highest to lowest number of genes with constituent daSNVs adequately covered included ACE (51 genes with 100 % daSNVs covered at ≥20×), SSCR (39 genes), NX (36 genes), SS (15 genes), NG (12 genes), and WGS (2 genes). The y-axis is truncated at 95 %, with truncated points labelled accordingly