Article
Ultrarare variants drive substantial cis heritability of human gene expression.
Nature genetics - 1 Sept 2019
Hernandez Ryan D, Uricchio Lawrence H, Hartman Kevin, Ye Chun, Dahl Andrew, Zaitlen Noah
Abstract excerpt
The vast majority of human mutations have minor allele frequencies under 1%, with the plurality observed only once (that is, 'singletons'). While Mendelian diseases are predominantly caused by rare alleles, their cumulative contribution to complex phenotypes is largely unknown. We develop and rigorously validate an approach to jointly estimate the contribution of all alleles, including singletons, to phenotypic...
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