Fig. 1
From: DNA methylation biomarkers of intellectual/developmental disability across the lifespan
Epigenetic signatures provide clinically useful information following exome sequencing. EpiSign is a classifier of DNA methylation signatures of genetic syndromic forms of IDD, particularly chromatinopathies. Variants of unknown significance (VUS) from exome sequencing results can be followed up with EpiSign to help determine if a variant is pathogenic, benign, or requires further molecular work-up to determine why an intermediate epigenetic signature is observed. BioRender.com was used for some images