Figure 4
From: MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Role of exonic variants in aberrant mRNA processing for Inherited disease and Cancer data sets. The somatic Cancer variants were derived from COSMIC and include both driver and passenger mutations. For all mutation types and the combined total, the proportions of predicted SAVs in both Inherited disease and Cancer were significantly enriched (Fisher’s exact test with Bonferroni correction applied; P < 0.05) when compared to exonic variants identified in the 1000 Genomes Project (unlike the SNP negative training set, in this instance no MAF filter was applied, that is, all rare and common variants were included).