(A) F1 scores for genomic sectors for each disease are averaged over all 10 replicate analyses per chromosome and the maximum F1 score is reported for that disease. ReVeaL scores on disease-label permutations are shown in overlaid hatched bars. The gray bar represents the mean over all diseases. (B-C) Boxplot of fg, shingle values representing the four moments of the distribution, of samples per disease and diseases ordered by decreasing median fg for the top 2 ReVeaL features. The line above each boxplot represents the shingle, the yellow interval representing the portion of the segment that is masked. (D-G) t-SNE visualization (perplexity = 40, iterations = 300) using the top 50 shingle fg values (B and C) and mutational load lg, number of mutations for a given window in the genomic region for a given patient, (D and E), respectively, in exonic and dark sectors.