Fig. 5.

Causal gene identification performance. ROC curves of enloc and PrediXcan statistics to identify the “causal” genes (OMIM silver standard) using expression (a) and splicing (b) are shown. Precision recall curves of enloc and PrediXcan to identify silver standard genes using expression (c) and splicing (d) (we show the precision in the range 0 to 0.4 to improve visualization). The number of GWAS loci (LD block-trait pairs) where the OMIM gene was ranked at the top by proximity, enloc, and PrediXcan using expression (e) and splicing (f). In 131 loci out of 206, the OMIM gene was not ranked at the top by either proximity, significance, or colocalization. In thirty one of the loci, the OMIM gene was ranked first by all three criteria. In nineteen loci, the OMIM gene was closest gene (to the top GWAS variant) but not the top gene by PrediXcan significance nor enloc’s colocalization probability