Figure 1
The burden of recent deleterious mutation accumulation.
The deleterious mutation burden (rare missense and LOF) for each exon (normalized by exon length) was computed for phenotype (red and green) and non-phenotype tolerated gene sets (grey). The whisker plot shows each bar with minimum and maximum quartiles. The grey bar represents the accumulation of exonic rare deleterious LOF mutations within genes that are tolerated in humans for LOF mutations. The green bar represents the immune mediated disease and the red bar represents genes reported to have deleterious LOF mutations in autism spectrum disorder (ASD). The significance (K-S test p-value) of rare deleterious mutation accumulation for a phenotype was obtained by comparing the burden distribution between tolerated and phenotypic genes.
