In the UNEW cohort, the PAX7 score and one of the DUX4 scores were found to differ between FSHD and healthy patients when looking at the unadjusted difference between groups; however, the difference was not significant after accounting for confounders such as gender, age and cell type proportions (Supplementary File 5). The gene discussed is DUX4; the disease is facioscapulohumeral muscular dystrophy.