Fig. 6 | Nature Communications

Fig. 6

From: BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Fig. 6

DMRs differentially methylated in NCBRS. The figure shows the entire 24 DMRs found to be differentially methylated in NCBRS cases compared to controls. The box plots represent the distribution of median methylation values across all of the probes mapping to each region as stratified by the subtypes, i.e., Controls, CSS1, CSS4, CSS3, and NCBRS. These regions are detected in the comparison between NCBRS and controls; however, except for four regions (outlined by black squares), all show a similar pattern of hypo/hypermethylation in the CSS3 category. In most cases, when this happens, the identified trend is more pronounced in CSS3. The CSS1 samples, however, tend to represent the end of a methylation spectrum that is more similar to controls. Center line: median of regional methylation levels across samples; lower and upper bounds: first and third quartiles; whiskers: interquartile ranges

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