연구성과

국외저널
논문명 MARS: leveraging allelic heterogeneity to increase power of association testing
게재일 20210430
학술지명 Genome Biology
책임교수
논문종류 SCI
제1저자 Jong Wha J. Joo
교신저자 주종화
공동저자 Jong Wha J. Joo
Impact Factor 13.583
Keyword
In standard genome-wide association studies (GWAS), the standard association test is underpowered to detect associations between loci with multiple causal variants with small effect sizes. We propose a statistical method, Model-based Association test Reflecting causal Status (MARS), that finds associations between variants in risk loci and a phenotype, considering the causal status of variants, only requiring the existing summary statistics to detect associated risk loci. Utilizing extensive simulated data and real data, we show that MARS increases the power of detecting true associated risk loci compared to previous approaches that consider multiple variants, while controlling the type I error.

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