Specifically, 763 differentially methylated CpG sites in BOS patients were used to develop the episignature and these classified variants of unknown significance (VUS) in ASXL1 by combining machine learning with the BOS episignature—thereby expanding the diagnostic tools available for this chromatinopathy (Awamleh et al. 2022). The gene discussed is ASXL1; the disease is Buschke-Ollendorff syndrome.