https://www.selleckchem.com/pr....oducts/cx-4945-silmi
We show that the probability of a falsely imputed minor allele decreases with reference sample size, but the proportion of falsely imputed minor alleles mostly depends on the allele count in the reference sample. We summarize the impact of this error on genotype imputation on association tests by calculating the r2 between imputed and true genotype and show that even when modeling other sources of error, the impact of the model misspecification has a significant impact on the r2 of rare variants. To evaluate these predicti