Figure 4

Integration of ATAC-seq and RNA-seq analysis. (a) Venn-diagram displaying overlap between ATAC-seq and mRNA-seq at T48. Counts represent the number of individual genes above minimum threshold for mRNA expression (> 3 CPM) or open chromatin (> 1 CPM). (b) Heatmaps showing normalized mRNA expression and chromatin accessibility at T0 and T48 for differentially expressed genes between control and HPFH samples. (c) Chromatin accessibility and mRNA expression of differentially expressed genes at T48. For each gene the genome track shows chromatin accessibility. Dotted lines indicate transcription start sites. Bar plots indicate mRNA expression values. The individuals from whom the samples were derived are indicated (Table 1). CPM: counts per million mapped reads; enh = erythroid enhancer in intron 2 of the BCL11A gene. mean + /- SD; *P < 0.05, **P < 0.01, ***P < 0.01, Students T-test.