Fig. 1

Reported FSHD biomarkers do not validate on most published FSHD muscle biopsy gene expression data sets. a Box plot confirms that the Yao et al.¹⁰ DUX4 114 target gene signature validates as a biomarker on the RNA-seq FSHD muscle biopsy data set published by Yao et al.¹⁰. 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, n = 15 FSHD and n = 8 control muscle biopsies. b A forest plot displays the results of meta-analysis of the discriminatory power of the Yao et al.¹⁰ DUX4 target gene signature across five published microarray FSHD muscle biopsy data sets (in total n = 82 FSHD and n = 82 control muscle biopsies). The differential scores (FSHD score minus control score) alongside 95% confidence intervals are provided. c A box plot confirms that the Rahimov et al.³ FSHD 15 gene biomarker validates as a biomarker on the microarray FSHD muscle biopsy discovery data set published by Rahimov et al.³. 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, n = 26 FSHD and n = 24 control muscle biopsies. d A forest plot displays the results of meta-analysis of the discriminatory power of the Rahimov et al.³ FSHD biomarker across four published microarray and one RNA-seq FSHD muscle biopsy data sets (in total n = 71 FSHD and n = 66 control muscle biopsies). The differential scores (FSHD score minus control score) alongside 95% confidence intervals are provided. Neither biomarker is able to discriminate FSHD from control samples on meta-analysis. However, both are able to discriminate on the Tasca et al.²⁸ MRI-guided muscle biopsy microarray data set. For single studies a two-tailed Wilcoxon U-test was performed to assess significance, while a Fisher’s combined test was employed for overall assessment: either the p-value is given, or an asterisk denotes p < 0.05