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.

补充文件8：表S8。本表格呈现先天性心脏病（Congenital Heart Disease，CHD）发现队列、验证队列与扩展队列（总样本量n=1101）中，CHD基因内全基因组高可信度剪接变异体富集的基因集。本研究在1101名CHD患者中共鉴定出133个CHD基因内的高可信度剪接干扰变异体，其中发现队列106例、验证队列48例、扩展队列947例。针对上述变异体，我们开展了人类表型本体（Human Phenotype Ontology）基因集的富集分析，仅展示校正后P值＜0.01的显著富集条目。