FIGURE 1: Extended relevance of human peripheral blood mononuclear cell (PBMC) test system . Polyadenylated-transcript enriched expression in human PBMCs under basal conditions, from three volunteer donors and 2 replicates/donor [median, 95% confidence intervals]. (A) All Ensembl [45] gene IDs (N=57,500 coding and non-coding gene IDs). The upper graph plots the 42,720 (74.3%) with mean basal expression >0.1 in PBMCs (logarithmic scale), and lower graph, the 29,931 (52.1%) with mean basal expression <1.0 (linear scale). Median and 95% confidence interval indicated. (B) PBMC expression of the 100 most expressed genes in five of the Genotype Tissue Expression (GTEx) project [41] organ-based tissues: 95% of lung, 100% of sigmoid colon; 99% of heart (atrial appendage), 98% of skeletal muscle and 95% of liver genes in the top 100 expression in the respective GTEx tissues were expressed in the PBMCs. The upper graph plots individual expression values, median and 95% confidence intervals; the lower graph is a heat map indicating the percentage (%) of the transcripts for each tissue expressed at the specified level. (C) The 17 actionable Pharmacogenes according to the Pharmacogenomics Knowledgebase [42], based on recommendations from the Dutch Pharmacogenetics Working Group [43], and Clinical Pharmacogenetics Implementation Consortium [44]. The upper graph plots individual expression values with median and 95% confidence intervals, annotated by gene identity; the lower graph is a heat map indicating the percentage (%) of the transcripts expressed at the specified level, with the individual genes in each expression category listed. Note the high PBMC expression of ABCG2, CYP2D6, CYP3A5, DPYD, F5, HLA-A, HLA-B, NUDT15, TPMT and VKORC1.