遗传建筑学
全基因组关联研究
生物
多效性
遗传关联
数量性状位点
特质
遗传学
进化生物学
计算生物学
单核苷酸多态性
表型
计算机科学
基因
基因型
程序设计语言
作者
Kyoko Watanabe,Sven Stringer,Oleksandr Frei,Maša Umićević Mirkov,Christiaan de Leeuw,Tinca J. C. Polderman,Sophie van der Sluis,Ole A. Andreassen,Benjamin M. Neale,Daniëlle Posthuma
出处
期刊:Nature Genetics
[Springer Nature]
日期:2019-08-19
卷期号:51 (9): 1339-1348
被引量:810
标识
DOI:10.1038/s41588-019-0481-0
摘要
After a decade of genome-wide association studies (GWASs), fundamental questions in human genetics, such as the extent of pleiotropy across the genome and variation in genetic architecture across traits, are still unanswered. The current availability of hundreds of GWASs provides a unique opportunity to address these questions. We systematically analyzed 4,155 publicly available GWASs. For a subset of well-powered GWASs on 558 traits, we provide an extensive overview of pleiotropy and genetic architecture. We show that trait-associated loci cover more than half of the genome, and 90% of these overlap with loci from multiple traits. We find that potential causal variants are enriched in coding and flanking regions, as well as in regulatory elements, and show variation in polygenicity and discoverability of traits. Our results provide insights into how genetic variation contributes to trait variation. All GWAS results can be queried and visualized at the GWAS ATLAS resource ( https://atlas.ctglab.nl ).
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