Figure 2 | Scientific Reports

Figure 2

From: Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping

Figure 2

Illustration of overall analytic approach. In our analysis, SRE SNPs and non-SRE SNPs were classified according to four functional categories: LOF, intronic, synonymous and non-synonymous. We also considered the overlap of SRE SNPs with transcript ratio quantitative trait loci (GEUVADIS) and splicing QTLs (GTEx) identified in RNA-Seq studies in LCLs and in human tissues, respectively. We assessed the evidence for high population differentiation and complemented this with evidence for positive selection using (given the potential for confounding due to demographic history) one of 3 additional signatures (iHS, XP-EHH, and XP-CLR). We also evaluated the evidence for negative selection and incorporated a metric of pathogenicity.

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