The thresholding parameters are fully adjustable to target desired population of epialleles; their default values (minimum 2 CpG sites, minimum average methylation beta value of 0.5 for CpG sites, maximum average methylation beta value of 0.1 for non-CpG sites) performed well in the study linking mosaic BRCA1 epimutations and cancer risk [12] and were used here in all downstream analyses. The gene discussed is BRCA1; the disease is cancer.