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arXiv 1712.06643stat.MEq-bio.GN
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快速排列测试和相关方法,用于罕见变异和二元结果之间的关联

Fast permutation tests and related methods, for association between rare variants and binary outcomes

Arjun Sondhi, Kenneth Martin Rice

摘要:

在大规模遗传关联研究中,主要目的是测试遗传变异与疾病结果之间的关联。感兴趣的变体通常是罕见的,并且在受试者中以低频率出现。在这种情况下,基于标准渐近结果的统计检验不能充分控制第一类错误率,尤其是在病例:控制比不平衡的情况下。在本文中,我们提出了使用置换和近似无条件测试测试与罕见的变体。我们使用新的分析计算,以有效地近似真实的第一类错误率下常见的研究设计,并在数值研究表明,所提出的类的测试显着提高标准的测试方法。我们还说明了我们的方法,在数据从最近的病例对照研究,遗传原因的严重副作用的一种常见的药物治疗。

英文摘要:

In large scale genetic association studies, a primary aim is to test for association between genetic variants and a disease outcome. The variants of interest are often rare, and appear with low frequency among subjects. In this situation, statistical tests based on standard asymptotic results do not adequately control the Type I error rate, especially if the case:control ratio is unbalanced. In this paper, we propose the use of permutation and approximate unconditional tests for testing association with rare variants. We use novel analytical calculations to efficiently approximate the true Type I error rate under common study designs, and in numerical studies show that the proposed classes of tests significantly improve upon standard testing methods. We also illustrate our methods in data from a recent case-control study, for genetic causes of a severe side-effect of a common drug treatment.

机构、总结、中文摘要均由AI分析而来,可能存在错误,请以论文正文为准。

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