Comparing distributions of experimental and random diffusion values (p-values for KS tests) Seeds Recipients Randomize Seeds (degree-matched) Randomize Recipients (degree-matched) Randomize Seeds (uniform) Randomize Recipients (uniform) spliceAI_02 AF_1 Exclusive familial 3.87e-01 3.51e-01 6.85e-01 1.18e-05 familial Exclusive spliceAI_02 AF_1 1.12e-05 9.42e-01 1.44e-07 7.60e-01 spliceAI_02 AF_1 Exclusive familial Exclusive 7.09e-01 1.84e-01 6.80e-01 1.78e-05 familial Exclusive spliceAI_02 AF_1 Exclusive 2.60e-06 8.73e-01 6.51e-07 7.56e-01 spliceAI_02 AF_1 Exclusive Overlap 2.18e-01 3.37e-01 2.38e-01 1.98e-01 familial Exclusive Overlap 1.98e-02 1.98e-02 1.98e-02 1.98e-02 Overlap Exclusives 1.17e-04 1.58e-03 6.59e-04 4.96e-04 Evaluating how well spliceAI_02 AF_1 genes are linked to familial genes, comparing against random ROC results Seeds Recipients AUROC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) spliceAI_02 AF_1 Exclusive familial 0.78 0.45 -0.10 0.08 5.16 familial Exclusive spliceAI_02 AF_1 0.51 -0.01 -0.17 -0.26 0.38 spliceAI_02 AF_1 Exclusive familial Exclusive 0.78 0.25 -0.52 0.11 4.49 familial Exclusive spliceAI_02 AF_1 Exclusive 0.51 -0.26 -0.31 -0.47 0.38 spliceAI_02 AF_1 Exclusive Overlap 0.88 1.45 1.07 1.44 1.38 familial Exclusive Overlap 1.00 1.67 1.98 2.05 1.75 Overlap Exclusives 0.57 0.58 1.65 1.04 3.06 PRC results Seeds Recipients AUPRC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) spliceAI_02 AF_1 Exclusive familial 0.00 -0.06 -0.31 -0.13 9.93 familial Exclusive spliceAI_02 AF_1 0.01 1.12 1.92 1.10 0.64 spliceAI_02 AF_1 Exclusive familial Exclusive 0.00 -0.02 -0.45 -0.01 5.45 familial Exclusive spliceAI_02 AF_1 Exclusive 0.01 -0.34 -0.28 -0.33 -0.13 spliceAI_02 AF_1 Exclusive Overlap 0.00 0.39 0.28 0.54 -0.07 familial Exclusive Overlap 0.08 196.58 661.05 391.74 37.27 Overlap Exclusives 0.02 12.43 7.28 5.18 11.95 Z-scores are computed for the experimental area under ROC or PRC based on distributions of the random areas under these curves Seeds: Genes where diffusion signal starts FROM) Recipients: Genes that receive the diffusion signal and that are in the other validated group Random genes are selected either uniformly or degree matched Number of genes ** #Total # Mapped in the network Not mapped genes spliceAI_02 AF_1 Exclusive 152 148 AC139530.2;AL024498.2;AC008763.2;AC113554.1 familial Exclusive 22 22 Overlap 1 1