Considering the smaller RNA-seq data set, all three DUX4 upregulated target gene signatures (Geng et al.35, Choi et al.34 and Yao et al.10), as well as our PAX7 target gene repression signature, proved to be significant biomarkers of FSHD status. Here, DUX4 is linked to facioscapulohumeral muscular dystrophy.