Supplementary Figure 5: Enrichments of shet in de novo variants from autism spectrum disorder (ASD) case and control trios.
From: Estimating the selective effects of heterozygous protein-truncating variants from human exome data
In a set of de novo ASD case (N=2,939) and control (N=1,429) trios, shet estimates can help discriminate between all protein-coding variants, protein-truncating variants (including all frameshift, nonsense, and essential splice site variants), and individually for nonsense, frameshift, and missense variants which are predicted to be PolyPhen-2 damaging. Box plots range from 25th-75th percentile values and whiskers include 1.5 times the interquartile range.
