Fig. 2

a The fraction of each ACMG gene within GIAB high-confidence regions. b Violin plots showing the distribution of the fraction each gene in the GIAB high-confidence regions for NA12878 for relevant gene sets: ACMG reportable genes, genes with variants in OMIM or ClinVar, and all genes. c Boxplots showing the distribution of the fraction of first, second, middle, penultimate, and last exon in ClinVar or OMIM genes in the GIAB high-confidence regions