Extended Data Fig. 10: DNV enrichment in phenotype subgroups.
From: Genomic analyses implicate noncoding de novo variants in congenital heart disease
a, Enrichment of DNVs with predicted functional impacts (score ≥0.1) for HeartENN (left) and DeepSEA (right) within phenotype subgroups. b, Enrichment of de novo SNVs with H3K36me3 marks implicated in RNA-binding protein disruption in different subgroups for the most significant (left) and highest effect size (right) hits. Both a and b were performed with a two-sided Fisher’s exact test (unadjusted P-values and 95% C.I.s shown) comparing the fraction of DNVs in each subgroup (HeartENN ≥ 0.1, DeepSEA ≥ 0.1, etc.) to the same control cohort. For HeartENN, there were n = 4,177 control DNVs with HeartENN ≥ 0.1 and n = 109,888 control DNVs with HeartENN < 0.1. NDD, neurodevelopmental disorder; ECA, extracardiac anomaly.
