Coding sequence (CDS) lengths of genes with <i>de novo</i> variants.

Abstract

<p>(A) ‘All genes’ denotes all translated human genes, ‘Siblings’ denotes genes with <i>de novo</i> mutations in non-autistic siblings of ASD cases published by O'Roak <i>et al.</i> and Sanders <i>et al.</i> Even the genes mutated in the healthy siblings are significantly longer than all coding genes (Mann–Whitney U test, P<2×10<sup>−16</sup>). The box plots depict the values between the 1<sup>st</sup> and 3<sup>rd</sup> quartile of a distribution, the 2<sup>nd</sup> quartile (thick band) represents the median. (B) Mutational burden strongly correlates with coding sequence length in the Exome Variant Server (Spearman's ρ = 0.710, P<2×10<sup>−16</sup>; <a href="http://evs.gs.washington.edu/EVS" target="_blank">http://evs.gs.washington.edu/EVS</a>). All nonsynonymous mutations were considered across all human chromosomes. (C) The median CDS length of a gene's connections correlates with its CDS length (Spearman's ρ = 0.508, P<2×10<sup>−16</sup>). We considered the strongest 100,000 links from the integrated phenotypic-linkage network.</p

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