Large-Effect eQTLs and ASE in the Family
(A) Large-effect cis-eQTLs. Effect sizes are shown as β, the regression slope. The distribution of family effect sizes (black) is compared to the distribution of population effect sizes (gray). We show cis-eQTL genes for which family effect sizes are greater than 95% of population effect sizes. Here, we only plot the distribution of paternal effect sizes (maternal effects have a very similar distribution).
(B) Large-effect ASE genes. ASE effect sizes were assessed by allelic imbalance (0 is balanced, and 0.5 is monoallelic expression). We picked the maximum ASE effect out of 11 siblings and compared it to the maximum ASE effect out of the subsampled population. Plotted are family ASE effects greater than 95% of population ASE effects. To exclude outlier effects, we further tested this for the second-strongest ASE effect in the siblings (Figure S22).