作者
Duncan S Palmer, Wei Zhou, Liam Abbott, Emilie M Wigdor, Nikolas Baya, Claire Churchhouse, Cotton Seed, Tim Poterba, Daniel King, Masahiro Kanai, Alex Bloemendal, Benjamin M Neale
发表日期
2023/3/31
期刊
Science
卷号
379
期号
6639
页码范围
1341-1348
出版商
American Association for the Advancement of Science
简介
Classical statistical genetics theory defines dominance as any deviation from a purely additive, or dosage, effect of a genotype on a trait, which is known as the dominance deviation. Dominance is well documented in plant and animal breeding. Outside of rare monogenic traits, however, evidence in humans is limited. We systematically examined common genetic variation across 1060 traits in a large population cohort (UK Biobank, N = 361,194 samples analyzed) for evidence of dominance effects. We then developed a computationally efficient method to rapidly assess the aggregate contribution of dominance deviations to heritability. Lastly, observing that dominance associations are inherently less correlated between sites at a genomic locus than their additive counterparts, we explored whether they may be leveraged to identify causal variants more confidently.
引用总数
学术搜索中的文章
DS Palmer, W Zhou, L Abbott, EM Wigdor, N Baya… - Science, 2023