Fig. 6: ONT reduced representation methylation sequencing (RRMS) of HG002 genome.

a–d Show IGV plots of methylation frequencies and sequencing reads. a HG002 methylation levels predicted by BS-seq, ONT whole genome sequencing (WGS) and RRMS. b HG002 ONT WGS reads with colored methylation tags annotated by DeepMod2. c HG002 ONT RRMS reads with methylation tags annotated by DeepMod2. In (b, c), methylated and unmethylated cytosines are shown in red and blue, respectively. d Shows RRMS on-target region track. e Shows read depth distribution for CpG sites with or without aggregating read counts from both strands. f–h Show heatmap and correlation between methylation frequencies for aggregated CpG sites from HG002 ONT RRMS and HG002 WGS from short-reads, ONT R9.4.1 and R10.4.1 flowcells, within RRMS regions of all 24 chromosomes. f–h Show heatmap and correlation between ONT RRMS methylation and short-read ground truth, ONT WGS R9.4.1 and ONT WGS R10.4.1 methylation of HG002. i Shows RRMS region track. Source data are provided as a Source Data file. Panels (a–d) and (i) are generated in IGV.