Figure 3.

Comparison of MRSD and transcripts per million (TPM) predictions

(A–D) MRSD and TPM predictions for 3322 multiexon genes present in the Genomics PanelApp repository are inversely correlated in (A) whole blood (r² = 0.661), (B) LCLs (r² = 0.613), (C) skeletal muscle (r² = 0.714), and (D) cultured fibroblasts (r² = 0.668).

(E) Grouping PanelApp genes by MRSD range shows that there is substantial overlap in the TPMs of genes across different groups, suggesting relative expression level alone is not an adequate proxy for transcript coverage in some cases. Log transformation in (E) excludes 553 entries with TPMs of 0 in the unfeasible group. Default MRSD parameters (8-read coverage of 75% of splice junctions, MRSD_0.95) used throughout.