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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

机译:超罕见的破坏性和破坏性突变会影响普通人群的教育程度

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摘要

Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants of YOE in the general population.
机译:在高度受限的基因中,破坏性,破坏性的超罕见变体富含神经发育障碍的个体。在普通人群中,此类变异与受教育年限(YOE)减少有关。在大脑高度表达的基因中,这种作用更强,并且解释了比病原拷贝数变异更多的YOE变异,但比普通变异少。在高度受限的基因中,破坏性,破坏性的超罕见变体会影响普通人群中YOE的决定因素。

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