Consider the association test of rare variant loci quantitative traits

Zhaoxin Wan; Xuewei Li; Tong Ye; Liang Tong

doi:10.1117/12.3036653

13 July 2024 Consider the association test of rare variant loci quantitative traits

Zhaoxin Wan, Xuewei Li, Tong Ye, Liang Tong

Proceedings Volume 13208, Third International Conference on Biomedical and Intelligent Systems (IC-BIS 2024); 132082E (2024) https://doi.org/10.1117/12.3036653
Event: 3rd International Conference on Biomedical and Intelligent Systems (IC-BIS 2024), 2024, Nanchang, China

Abstract

For a long time, researchers have been facing the challenges of population stratification in genetic association studies. Due to the potential of population stratification to cause false positives and false negatives, if not properly corrected, it may mask true association signals. In the analysis of rare variant associations, this issue can become even more challenging because rare variants are difficult to detect. To address the aforementioned issue, this paper introduces a method, the optimal weighted aggregate (C-TOWA), for assessing the effects of variants in admixed populations and detecting associations between genetic loci and trait values. The method takes into account the weights of variants that are strongly associated with the phenotype, that is, optimally deriving weights based on existing phenotype and genotype data. We assessed the execution of the C-TOWA method through wide-ranging simulation experiments. The simulation results show that C-TOWA can effectively control population stratification effects and is the most powerful in nearly all scenarios.

(2024) Published by SPIE. Downloading of the abstract is permitted for personal use only.

Citation Download Citation

Zhaoxin Wan, Xuewei Li, Tong Ye, and Liang Tong "Consider the association test of rare variant loci quantitative traits", Proc. SPIE 13208, Third International Conference on Biomedical and Intelligent Systems (IC-BIS 2024), 132082E (13 July 2024); https://doi.org/10.1117/12.3036653

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