Article
Boosting the Power of Rare Variant Association Studies by Imputation Using Large-scale Sequencing Population.
Genomics, proteomics & bioinformatics - 28 Oct 2025
Dai 戴景岚 Jinglan, Zhang 张艺昕 Yixin, Gao 高源 Yuan, Li 李鸿儒 Hongru, Du 杜莎 Sha, Hong 洪豪 Hao, You 尤东方 Dongfang, Li 郦再鸣 Zaiming, Zhang 张汝阳 Ruyang, Zhao 赵杨 Yang, Liu 刘中华 Zhonghua, Christiani David C, Chen 陈峰 Feng, Shen 沈思鹏 Sipeng
Abstract excerpt
With the emergence of population-scale whole-genome sequencing (WGS), rare variants can be captured precisely. Studying rare variants explains part of the heritability of complex traits that is overlooked by conventional genome-wide association studies (GWASs). However, the extent to which imputed data can approximate or improve upon the power of WGS data in rare variant association studies remains unclear. Using...
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