Figure 2
From: Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations
Distribution of nSL + PBS and power calculations. (a) Observed joint distribution of nSL and p(PBS|DAF) of all exonic SNPs (blue), with top-1% outliers coloured teal (not missense), orange (missense) or red with black border (missense; the 11 highly damaging variants). (b) Simulated joint distribution of nSL and p(PBS|DAF), with X- and Y-axes as in (a). Results from neutral scenarios are shown in blue, with those from selected scenarios (s = 0.02) in red. Note the clustering of selected SNPs in the low-p(PBS|DAF), low-nSL regime, corresponding to that detected by our PBS + nSL selection statistic; also note the especial clustering of most damaging missense variants in (a) in this region of the plot. (c) Power from the simulations of the three statistics to detect selection, with selected variants with a p-value ≤ 0.0062 classified as successful detections. X- and Y-axes are derived allele frequency and power, respectively.
