We first computed our PAX7 target gene repression biomarker derived from 311 up-regulated PAX7 target genes and 290 down-regulated PAX7 target genes (28); PAX7 target genes were significantly repressed in FSHD samples compared to controls (Wilcoxon P = 5.34 × 10−5; Fig. 1A). This evidence concerns the gene PAX7 and facioscapulohumeral muscular dystrophy.