deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
Nat Genet. 2016 Mar;48(3):314-7. doi: 10.1038/ng.3507. Epub 2016 Feb 8.
The consensus approach to genome-wide association studies (GWAS) has been to assign equal prior probability of association to all sequence variants tested. However, some sequence variants, such as loss-of-function and missense variants, are more likely than others to affect protein function and are therefore more likely to be causative. Using data from whole-genome sequencing of 2,636 Icelanders and the association results for 96 quantitative and 123 binary phenotypes, we estimated the enrichment of association signals by sequence annotation. We propose a weighted Bonferroni adjustment that controls for the family-wise error rate (FWER), using as weights the enrichment of sequence annotations among association signals. We show that this weighted adjustment increases the power to detect association over the standard Bonferroni correction. We use the enrichment of associations by sequence annotation we have estimated in Iceland to derive significance thresholds for other populations with different numbers and combinations of sequence variants.
全基因组关联研究(GWAS)的共识方法是为所有测试的序列变体赋予相等的关联先验概率。然而,一些序列变体,如功能丧失和错义变体,比其他变体更有可能影响蛋白质功能,因此更有可能是致病的。我们使用来自 2636 名冰岛人的全基因组测序数据和 96 个定量和 123 个二进制表型的关联结果,估计了序列注释对关联信号的富集程度。我们提出了一种基于序列注释的加权 Bonferroni 调整方法,以控制总体错误率(FWER),权重为关联信号中序列注释的富集程度。我们表明,这种加权调整提高了检测关联的功效,超过了标准的 Bonferroni 校正。我们使用在冰岛估计的序列注释关联富集程度,为具有不同数量和组合的序列变体的其他人群推导出显著性阈值。