Figure 4: Rare damaging SNPs in immune-related genes of syCRC patients.

(a) Mutation enrichment gene set analysis (MEGA). All mutations in members of a given gene set are counted in all samples of two cohorts. The resulting distributions of mutations are compared between the two cohorts using the one-tailed Wilcoxon rank-sum test and corrected for multiple testing using the Benjamini & Hochberg method. (b) KEGG and disease-associated gene sets that are enriched in rare damaging SNPs in syCRC patients (33) when compared to soCRC patients (406) and to individuals from the 1,000 Genomes Project (756). Only gene sets with FDR <10% in both comparisons are reported. Since FDR was always <5%, FDR ranges from 0 to 5%. (c) Results of the bootstrapping procedure applied to the four immune-related gene sets. Significant comparisons had P value <0.05, one-tailed Wilcoxon rank-sum test. (d) Genes of the four immune-related gene sets with rare damaging SNPs in syCRC patients.