Additional file 8 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Additional file8: Table S8. Gene sets enriched for genome-wide high-confidence splicing variants in CHD genes in the CHD Discovery, Validation, and Extension cohorts (n=1,101). 133 high-confidence splice-disrupting variants in CHD genes were identified in the 1,101 CHD patients - Discovery (n=106), Validation (n=48), and Extension (n=947) cohorts. Variants were tested for enrichment within Human Phenotype Ontology gene sets. Significantly enriched terms (adjusted p < 0.01) are shown.