作者
Quan Sun, Yingxi Yang, Jonathan D Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu, Jia Wen, Laura M Raffield, Rhonda G Pace, Yi-Hui Zhou, Fred A Wright, Scott M Blackman, Michael J Bamshad, Ronald L Gibson, Garry R Cutting, Michael R Knowles, Daniel R Schrider, Christian Fuchsberger, Yun Li
发表日期
2022/11/3
期刊
The American Journal of Human Genetics
卷号
109
期号
11
页码范围
1986-1997
出版商
Elsevier
简介
Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic variation but is still prohibitively expensive for large samples. To reduce costs, many studies sequence only a subset of individuals or genomic regions, and genotype imputation is used to infer genotypes for the remaining individuals or regions without sequencing data. However, not all variants can be well imputed, and the current state-of-the-art imputation quality metric, denoted as standard Rsq, is poorly calibrated for lower-frequency variants. Here, we propose MagicalRsq, a machine-learning-based method that integrates variant-level imputation and population genetics statistics, to provide a better calibrated imputation quality metric. Leveraging WGS data from the Cystic Fibrosis Genome Project (CFGP), and whole-exome sequence data from UK BioBank (UKB), we performed comprehensive experiments to evaluate the …
引用总数
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Q Sun, Y Yang, JD Rosen, MZ Jiang, J Chen, W Liu… - The American Journal of Human Genetics, 2022