Fig. 2

Circos plot of the genome-wide ‘landscape’ of allele-specific methylation for key Norfolk Island individuals. Circular representation of the genome, all positions indicated are relative to build hg38. The grey outermost ring represents individual CpG sites identified as exhibiting allele-specific methylation (ASM) using the Fisher’s Sum Z method −log10(P value). All points shown have Sum Z P values < 0.05, indicating ASM sharing between at least 8 individuals. The second outermost ring represents a chromosomal ideogram (annotated is the chromosomal number). The third ring annotates all 91 known human imprinted genes and their genomic position. Imprinted gene symbols indicated in purple represent imprinted genes which overlap allele-specific methylated regions (AMR). The innermost ring represents all identified AMR and their chromosomal position. A visual indication of AMR size is indicated by: blue < 1 Kb; black > 1 Kb and < 10 Kb; dark red > 10 Kb in size