To test whether the marker variants from the elastic net models were appropriately determined, we evaluated the model predictions for the 1,093 events by estimating the heritability of the splicing outcomes using GCTA [30]. We found that the R2 of the model prediction for 87.5% of the events were within the 95% confidence interval (CI) of the GCTA estimated heritability, h2 (Fig. 1E), which indicates that the genetically determined splicing outcomes can be largely explained by the variants we selected within the transcribed region.
