Fig. 2
From: Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion
Methylation of the C9orf72 repeat expansion. (a-b) Waterfall-like plots for (a) the wild-type and (b) expanded alleles (with flanking region) for one representative individual. The x-axis represents the position of each CpG within a read and the y-axis displays all reads sorted by number of CpG sites. Low methylation scores are presented in white and higher scores in red. Lines at the top of the waterfall-like plots indicate the approximate size of the flanking regions for the expanded allele. (c) Barplot showing the proportion of methylation (measured by median methylation score per read) per individual (n = 27) for the wild-type and expanded alleles. (d-e) Boxplot(s) displaying (d) the median methylation score and (e) median proportion of methylated CpGs per read for each individual (n = 27) for each allele. Boxes represent the interquartile range (IQR; 25th − 75th percentile), lines represent the median, and each dot corresponds to one individual. Significantly higher methylation was detected for the expanded allele using the methylation score (P-Value = 6.64E-06) and proportion of methylated CpGs (P-Value = 2.76E-05). A paired Wilcoxon rank-sum test was used for each of these comparisons. ***P-Value < 0.001