Importantly, using the longitudinal, transcriptomic muscle biopsy data set published by Wong et al.,22 the FSHD muscle–blood biomarker discriminates Year 1 from Year 2 FSHD muscle biopsy samples (paired Wilcoxon P = 0.03, Fig. 5C), as does the full PAX7 score.25 Finally, the FSHD muscle–blood biomarker discriminates FSHD from control samples on meta-analysis and on 6/7 independent FSHD muscle biopsy transcriptomic data sets (Fisher’s combined P = 3.4 × 10−10, Fig. 5D), a performance comparable to the full PAX7 score (significant on 7/7 data sets) (summarized in Table 4). This evidence concerns the gene PAX7 and facioscapulohumeral muscular dystrophy.