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Gene-Based Association Tests Using Gwas Summary Statistics And Incorporating Eqtl, Xuewei Cao, Xuexia Wang, Shuanglin Zhang, Qiuying Sha Mar 2022

Gene-Based Association Tests Using Gwas Summary Statistics And Incorporating Eqtl, Xuewei Cao, Xuexia Wang, Shuanglin Zhang, Qiuying Sha

Michigan Tech Publications

Although genome-wide association studies (GWAS) have been successfully applied to a variety of complex diseases and identified many genetic variants underlying complex diseases via single marker tests, there is still a considerable heritability of complex diseases that could not be explained by GWAS. One alternative approach to overcome the missing heritability caused by genetic heterogeneity is gene-based analysis, which considers the aggregate effects of multiple genetic variants in a single test. Another alternative approach is transcriptome-wide association study (TWAS). TWAS aggregates genomic information into functionally relevant units that map to genes and their expression. TWAS is not only powerful, but …