Additional file 7 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Additional file7: Table S7. High-confidence DNA splice variants in CHD genes in CHD Extension cohort (n=947). Rare (gnomAD v2 allele frequency < 0.0001 and gnomAD v3 PopMax allele frequency < 0.0001) high-confidence splice-disrupting DNA variants in Tier 1 CHD genes or haploinsufficiency-intolerant (pLI≥0.9) Tier 2 CHD genes were identified in the Extension cohort. DNA variants were selected by weighted random forest model 4 (Extension cohort), yielding an additional 42 variants in Tier 1 CHD genes and 79 variants in Tier 2 CHD genes. All variant features used in random forest models are included. Clinical features of the proband harboring each DNA variant are additionally shown.

附加文件7：表S7。先天性心脏病（Congenital Heart Disease, CHD）扩展队列（n=947）中CHD基因的高可信度DNA剪接变异体。在该扩展队列中，我们鉴定出了满足以下条件的高可信度剪接干扰型DNA变异体：属于1级（Tier 1）CHD基因，或属于单倍剂量不足不耐受（pLI≥0.9）的2级（Tier 2）CHD基因，且为稀有变异（gnomAD v2等位基因频率<0.0001且gnomAD v3 PopMax等位基因频率<0.0001）。本次研究通过加权随机森林模型4（针对该扩展队列）筛选DNA变异体，最终在1级CHD基因中额外获得42个变异体，在2级CHD基因中额外获得79个变异体。本研究纳入了随机森林模型所使用的全部变异体特征。此外，本研究还展示了携带每一种DNA变异体的先证者的临床特征。