An atlas of genetic associations in UK Biobank.
An atlas of genetic associations in UK Biobank.
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DOI：
10.1038/s41588-018-0248-z
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发表时间：
2018-11
期刊：
影响因子：
30.8
通讯作者：
Tenesa A
中科院分区：
文献类型：
--
作者：
Canela-Xandri O;Rawlik K;Tenesa A
全基因组关联研究揭示了许多导致复杂性状变异的基因座，但大多数影响复杂性状遗传力的基因座仍然难以捉摸。需要具有足够统计能力的大型研究群体来检测尚未确定的遗传变异的小效应大小。然而，对英国生物银行等庞大群体的分析是具有挑战性的。在这里，我们提供了452,264名白人血统的英国生物库参与者的118个非二进制和660个二进制性状的遗传关联图谱。结果汇编在一个可公开访问的数据库中，该数据库允许查询9,113,133个遗传变异的全基因组关联结果，以及下载3000多万个被归因于遗传变异(230亿个表型-基因型对)的完整Gwas汇总统计数据。我们的关联图集(GeneATLAS，http://geneatlas.roslin.ed.ac.uk))将帮助研究人员以一种简单而统一的方式查询英国生物库的结果，而不需要招致高昂的计算成本。
Genome-wide association studies have revealed many loci contributing to the variation of complex traits, yet the majority of loci that contribute to the heritability of complex traits remain elusive. Large study populations with sufficient statistical power are required to detect the small effect sizes of the yet unidentified genetic variants. However, the analysis of huge cohorts, like UK Biobank, is challenging. Here we present an atlas of genetic associations for 118 non-binary and 660 binary traits of 452,264 UK Biobank participants of white descent. Results are compiled in a publicly accessible database that allows querying genome-wide association results for 9,113,133 genetic variants, as well as downloading whole GWAS summary statistics for over 30 million imputed genetic variants (>23 billion phenotype-genotype pairs). Our atlas of associations (GeneATLAS, http://geneatlas.roslin.ed.ac.uk) will help researchers to query UK Biobank results in an easy and uniform way without the need to incur in high computational costs.