Additional file 3 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Additional file3: Table S3. Myocardial RNA outlier splicing events and confirmed associated DNA splice variants in CHD Discovery cohort (n=106). 100 rare (internal MAF &lt; 0.01) genome-wide DNA splice-disrupting variants within the Discovery cohort were confirmed by myocardial RNA-Seq. In addition, six significant RNA splicing events were observed without a causative DNA splice-disrupting variant in Tier 1 CHD genes or haploinsufficiency-intolerant (pLI≥0.9) Tier 2 CHD genes. All variant features used in random forest models are included. Clinical features of the proband harboring each RNA splicing event are additionally shown.附加文件3：表S3。先天性心脏病（CHD）发现队列（n=106）中的心肌RNA异常剪接事件及已验证的相关DNA剪接变异体。本发现队列中共100个罕见（内部次要等位基因频率<0.01）的全基因组DNA剪接干扰变异体，经心肌RNA测序（RNA-Seq）验证。此外，在1级先天性心脏病基因或单倍剂量不足不耐受（pLI≥0.9）的2级先天性心脏病基因中，未发现致病DNA剪接干扰变异体，但观察到6个具有统计学意义的RNA剪接事件。本研究随机森林模型所使用的全部变异特征均已纳入。携带每一处RNA剪接事件的先证者的临床特征亦一并列出。