We apply it to samples from two controls, four FSHD1 patients, four FSHD2 patients, and two patients with Bosma arhinia microphthalmia syndrome (BAMS) caused by <i>SMCHD1</i> variants, as well as publicly available data from 30 B-lymphoblastoid cell lines from the 1000 Genomes Project and Human Pangenome Reference Consortium. The gene discussed is SMCHD1; the disease is arhinia, choanal atresia, and microphthalmia.