Figure 1

SRE SNPs: distribution of SRE motifs and evidence of impact on splicing. (a) The box plot shows the distribution of the number of occurrences per gene for each class of SRE motifs. (b) The Q-Q plot shows the distribution of p-values from the association with splicing ratios of genes (estimated using sQTLseekeR applied to GTEx first-phase data) in whole blood for the set of SRE SNPs and for a random set of SNPs matched on relevant SNP attributes. The leftward shift in the Q-Q plot was observed for the SRE SNPs relative to all such random sets (n = 1000).