Combining genetic variants from genome-wide case-control association studies with unidentifiable effects

发布时间:2025-03-18浏览次数:10

报告题目:Combining genetic variants from genome-wide case-control association studies with unidentifiable effects

报告人:陈博(南开大学)


摘要:In genome-wide case-control association studies, the chances that effects of genetic variants are not identifiable due to randomness have been frequently overlooked. Originally not a problem with single variant, it may cause serious problem when combining effects from multiple genetic variants using Cauchy combination test. We carefully investigate the cause of unidentifiable genetic effects, and perform exact calculation for the chance of unidentifiable genetic effects under commonly used genetic coding schemes. We then explain why in practice these unidentifiable genetic effects issue cause a problem, and propose a solution by truncating Cauchy combination test. We demonstrate that our proposed test solves the limitations of Cauchy combination test and always has higher power. We prove that the tail probability of our test statistic is asymptotically Cauchy distributed, so it is computationally effective to achieve the combined p-value using our proposed test. We show by simulation that our proposed test has accurate type I error rates, and maintain high power when Cauchy combination test fails to work. We finally perform application studies to illustrate the usefulness of our proposed test on genome-wide association studies.


时间:3月24日(星期一),14:00-15:30

地点:明德楼B201-1


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