Article
MagicalRsq: Machine-learning-based genotype imputation quality calibration.
American journal of human genetics - 3 Nov 2022
Sun Quan, Yang Yingxi, Rosen Jonathan D, Jiang Min-Zhi, Chen Jiawen, Liu Weifang, Wen Jia, Raffield Laura M, Pace Rhonda G, Zhou Yi-Hui, Wright Fred A, Blackman Scott M, Bamshad Michael J, Gibson Ronald L, Cutting Garry R, Knowles Michael R, Schrider Daniel R, Fuchsberger Christian, Li Yun
Abstract excerpt
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...
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