Figure 6.

Application of MRSD scores to disease genes listed in the Genomics England PanelApp repository

(A) Comparison of PanelApp panel gene MRSD predictions between tissues shows blood to exhibit markedly poorer coverage of disease genes than other tissues.

(B) When comparing MRSD predictions for genes in blood and LCLs, 1,522 genes are considered “high-MRSD” (i.e., have an MRSD ≥ 100 M reads) in both tissues (gray). Genes which are exclusively low-MRSD (i.e., MRSD < 100 M) in blood are far fewer in number (with 66 genes, red box), while the remainder are low-MRSD in both (775 genes, purple box) or low-MRSD in LCLs only (749 genes, blue box).

(C) Comparison of PanelApp panel gene MRSDs between tissues shows many panel genes have greater coverage in fibroblasts than blood and, to a lesser extent, LCLs and skeletal muscle over a variety of disease subtypes. 40 exemplar gene panels are shown here, see Figures S12 and S13 for all 295 PanelApp gene panels.

(D) Top 10 panels with most significant difference between low- and high-MRSD gene counts between blood and LCLs (chi-square test).

(E) Venn diagrams showing number of low-MRSD genes predicted in blood and LCLs for two exemplar disease gene panels.