Fig. 1
From: Identification of rare de novo epigenetic variations in congenital disorders
Large gains and losses of DNA methylation identified in patients with ND–CA. Plots a, b, and c show β values obtained from Illumina 450k array for probands (highlighted in green) and 1534 controls (shades of gray corresponding to ±1, ±1.5, and ±2 standard deviations from the population mean, represented by the dashed black line; dashed gray lines represent controls with outlier methylation levels). a Recurrent hypomethylation of the imprinted locus of MEG3 (hg19: chr14:101290194–101294429) in Proband 398 (solid green line) and Proband 146 (dashed green line). The epivariation in Proband 398 is de novo as both mother (red line) and father (blue line) present methylation profiles similar to controls. b Recurrent hypomethylation at the promoter, 5’ UTR, and first exon of MOV10L1 (hg19: chr22:50528178–50528751) observed in two unrelated probands: Proband 22 (de novo epivariation) and Proband 117 (inheritance unknown). c Hypermethylation of ZNF57 in Proband 381. d Pedigree and graphical representation of the methyl-seq data consistent with allele-specific nature of a de novo hypermethylation identified in ZNF57 is shown. Each plot shows the methylation pattern for an amplicon, with each row representing a single bisulfite read and each column one CpG in the amplicon. Black circles are methylated CpGs and white circles unmethylated CpGs. Based on the presence of a heterozygous SNP within the DMR (hg19: chr19:2900643), the observed gain of methylation occurs specifically on one allele: each pie chart shows the methylated fraction of reads per CpG
