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Tests of association based on genomic windows can lead to spurious associations when using genotype panels with heterogeneous SNP densities
Genetics Selection Evolution ( IF 4.1 ) Pub Date : 2021-05-26 , DOI: 10.1186/s12711-021-00638-x
Jinghui Li 1 , Zigui Wang 1 , Rohan Fernando 2 , Hao Cheng 1
Affiliation  

Dense single nucleotide polymorphism (SNP) panels are widely used for genome-wide association studies (GWAS). In these panels, SNPs within a genomic segment tend to be highly correlated. Thus, association studies based on testing the significance of single SNPs are not very effective, and genomic-window based tests have been proposed to address this problem. However, when the SNP density on the genotype panel is not homogeneous, genomic-window based tests can lead to the detection of spurious associations by declaring effects of genomic windows that explain a large proportion of genetic variance as significant. We propose two methods to solve this problem.

中文翻译:

当使用具有异质 SNP 密度的基因型面板时,基于基因组窗口的关联测试可能会导致虚假关联

密集单核苷酸多态性 (SNP) 面板广泛用于全基因组关联研究 (GWAS)。在这些面板中,基因组片段内的 SNP 往往高度相关。因此,基于测试单个 SNP 重要性的关联研究不是很有效,并且已经提出基于基因组窗口的测试来解决这个问题。然而,当基因型面板上的 SNP 密度不均匀时,基于基因组窗口的测试可以通过声明解释大部分遗传变异显着的基因组窗口的影响来检测虚假关联。我们提出了两种方法来解决这个问题。
更新日期:2021-05-26
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