Fig. 5

PAX7 and DUX4 target gene biomarkers validate on FSHD myoblast gene expression data sets. Box plots show the a Choi et al.³⁴, b Yao et al.¹⁰ and c Geng et al.³⁵ DUX4 target gene signatures and d our PAX7 biomarker, computed for five FSHD patient lines and four matched control lines corresponding to three patients and controls RNA-sequenced in triplicate (in total n = 15 FSHD and n = 12 Control). In line with previous findings, PAX7 repression and DUX4 expression as assessed by the Yao et al.¹⁰ and Geng et al.³⁵ DUX4 target signatures are significant biomarkers of FSHD status. The Choi et al.³⁴ DUX4 target gene biomarker is not a significant discriminator of FSHD status, where target genes were identified after 8 h of DUX4 induction. The box represents the interquartile range (IQR), with the median indicated by a line. Whiskers denote min (1.5*IQR, max (observed value)). ‘‘o’’ represents data points greater than 1.5 IQR from the median. The two-tailed Wilcoxon U-test p-value is given. e A ROC curve compares the discriminatory power of our PAX7 biomarker with the Geng et al.³⁵, Choi et al.³⁴ and Yao et al.¹⁰ DUX4 target gene signatures across the RNA-seq data set of FSHD and control immortalised myoblasts. De-Long’s test reveals no significant differences in the discriminatory power of these three DUX4 and one PAX7 biomarkers