We found that our PAX7 biomarker, the Yao et al.10 and Geng et al.35 DUX4 target gene signatures were all significant discriminators of FSHD status (Wilcoxon signed rank test p < 0.05, Fig. 5a–d), in line with our results from the muscle biopsy RNA-seq data, but the Choi et al.34 DUX4 target gene signature was not (Fig. 5a). Here, DUX4 is linked to facioscapulohumeral muscular dystrophy.