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Human Dominant Disease Genes Are Enriched in Paralogs Originating from Whole Genome Duplication

Figure 1

Distributions of WGD, SSD, and singletons in (A) the whole human genome, (B) monogenic disease (MD) genes [1], (C) recessive MD genes, and (D) dominant MD genes.

(***) corresponds to highly significant deviations (p<10−6, FE test) and (**) to significant deviations (p<10−3, FE test) from the references in (A). Note that recessive MD genes (C) do not show any significant deviations in WGD, SSD, or singleton contents (p>0.3, FE test), although taking into account the age of SSD duplicates reveals a relative lack of recent SSD genes in MD genes (see text).

Figure 1