Article
De novo mutations implicate novel genes in systemic lupus erythematosus.
Human molecular genetics - 1 Feb 2018
Pullabhatla Venu, Roberts Amy L, Lewis Myles J, Mauro Daniele, Morris David L, Odhams Christopher A, Tombleson Philip, Liljedahl Ulrika, Vyse Simon, Simpson Michael A, Sauer Sascha, de Rinaldis Emanuele, Syvänen Ann-Christine, Vyse Timothy J
Abstract excerpt
The omnigenic model of complex disease stipulates that the majority of the heritability will be explained by the effects of common variation on genes in the periphery of core disease pathways. Rare variant associations, expected to explain far less of the heritability, may be enriched in core disease genes and thus will be instrumental in the understanding of complex disease pathogenesis and their potential...
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