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A robust and efficient statistical method for genetic association studies using case and control samples from multiple cohorts

机译:使用来自多个队列的病例和对照样本进行遗传关联研究的强大有效统计方法

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摘要

BackgroundThe theoretical basis of genome-wide association studies (GWAS) is statistical inference of linkage disequilibrium (LD) between any polymorphic marker and a putative disease locus. Most methods widely implemented for such analyses are vulnerable to several key demographic factors and deliver a poor statistical power for detecting genuine associations and also a high false positive rate. Here, we present a likelihood-based statistical approach that accounts properly for non-random nature of case–control samples in regard of genotypic distribution at the loci in populations under study and confers flexibility to test for genetic association in presence of different confounding factors such as population structure, non-randomness of samples etc.
机译:背景技术全基因组关联研究(GWAS)的理论基础是任何多态性标记与推定疾病位点之间连锁不平衡(LD)的统计推断。广泛用于此类分析的大多数方法都容易受到几个关键人口统计学因素的影响,并且无法检测到真正的关联性,而且统计误报率也很高。在这里,我们提出了一种基于似然性的统计方法,该方法可以适当考虑病例对照样本在研究人群中基因座的基因型分布方面的非随机性质,并赋予其灵活性,以便在存在诸如以下混杂因素的情况下测试遗传关联如人口结构,样本的非随机性等

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