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. Author manuscript; available in PMC: 2017 Oct 3.
Published in final edited form as: Nat Genet. 2017 Apr 3;49(5):806–810. doi: 10.1038/ng.3831

Figure 3.

Figure 3

Enrichments of shet in known haploinsufficient disease genes of high confidence (ClinGen Dosage Sensitivity Project). In (N=127) autosomal genes, we annotate the shet scores of genes associated with each disease category and classification. Higher shet values are associated with [a] earlier age of onset (Mann-Whitney U p=1.46 ×10−2), [b] a larger fraction of de novo variants (p=8×10−5), [c] high or unspecified penetrance (p=1.79 ×10−2) and [d] increased phenotypic severity (p=4.87×10−3). Box plots range from 25th–75th percentile values and whiskers include 1.5 times the interquartile range. [e] Genes with the 10% highest shet values are also similarly enriched with more severe clinical annotations.