Extended Data Fig. 3: Experimental estimations of repeat sizes using PCR versus genotypes generated by ExpansionHunter v3.2.2.
From: Increased frequency of repeat expansion mutations across different populations
a). Swim lane plot showing sizes of repeat expansions predicted by ExpansionHunter across 681 samples with expansion calls. Each genome is represented by two points, one corresponding to each allele for each locus, except for those on the X chromosome (that is FMR1 and AR) in males, for which only one point is shown. Points indicate the repeat length estimated by ExpansionHunter after visual inspection and the colours indicate the repeat size as assessed by PCR (blue represents non-expanded; red represents expanded). The regions are shaded to indicate non-expanded (blue), premutation (yellow), and expanded (red) ranges for each gene, as indicated in Table 1. Blue points in yellow or red-shaded regions indicate false positives and red points in blue-shaded regions indicate false negatives. The individual calls are provided in Supplementary Table 3. b). Points indicate the RE size estimated by both PCR and EH v3.2.2 split by super-population. We show the R correlation coefficient calculated using Pearson’s equation and two-tailed P values. Exact p-values for the regression model: AFR (1.1×10−28), AMR (2.1×10−29), EUR (1.7×10−168), and SAS (1.3×10–80).
