Robust Reference Powered Association Test of Genome-Wide Association Studies

Wang, Yi and Li, Yi and Hao, Meng and Liu, Xiaoyu and Zhang, Menghan and Wang, Jiucun and Xiong, Momiao and Shugart, Yin Yao and Jin, Li (2019) Robust Reference Powered Association Test of Genome-Wide Association Studies. Frontiers in Genetics, 10. ISSN 1664-8021

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Abstract

Genome-wide association studies (GWASs) have identified abundant genetic susceptibility loci, GWAS of small sample size are far less from meeting the previous expectations due to low statistical power and false positive results. Effective statistical methods are required to further improve the analyses of massive GWAS data. Here we presented a new statistic (Robust Reference Powered Association Test1) to use large public database (gnomad) as reference to reduce concern of potential population stratification. To evaluate the performance of this statistic for various situations, we simulated multiple sets of sample size and frequencies to compute statistical power. Furthermore, we applied our method to several real datasets (psoriasis genome-wide association datasets and schizophrenia genome-wide association dataset) to evaluate the performance. Careful analyses indicated that our newly developed statistic outperformed several previously developed GWAS applications. Importantly, this statistic is more robust than naive merging method in the presence of small control-reference differentiation, therefore likely to detect more association signals.

Item Type: Article
Subjects: STM Open Press > Medical Science
Depositing User: Unnamed user with email support@stmopenpress.com
Date Deposited: 07 Feb 2023 10:33
Last Modified: 23 Sep 2024 04:12
URI: http://journal.submissionpages.com/id/eprint/304

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