Figure 6.

Detection of allele-specific methylation in GATA2 promoters. Differential methylation analysis of putative promoters of the 2 expressed GATA2 isoforms by Nanopore sequencing (Prom-S and Prom-L). In 4 patients with CEBPA DM, the more abundant allele (A) was compared with the less transcriptionally active allele (I) based on a heterozygous single-nucleotide polymorphism: rs72983369 for 2240 and rs1573858 for 2253, 2273, and 3327. Methylation likelihood ratios computed by Nanopolish were averaged across all reads mapping to each allele.