Extended Data Fig. 3: De novo variant (DNV) CHD-unaffected burden.
From: Genomic analyses implicate noncoding de novo variants in congenital heart disease
The number of DNVs in 184 noncoding annotations (points) genome-wide and within 10 kb of TSSs for 6 gene sets (facets) was counted in CHD (n = 749) and Simons unaffected (n = 1,611) individuals. The P value threshold (1.5 x 10-4, horizontal blue line) is 0.05 divided by the product of the number of effective annotations (n = 47) and number of gene sets (n = 7). The P value (y-axis) was calculated with a two-sided Fisher’s exact test, the odds ratio (x-axis) was DNVsannotation,CHD/DNVstotal,CHD vs. DNVsannotation,unaffected/DNVstotal, unaffected. No annotations surpassed the P value threshold. CHD, congenital heart disease; HHE, high heart expression.
