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Allelic R is the squared correlation between allele dosage of the most likely imputed genotype and allele dosage of the true imputed genotype [ 5] and the closer these are, the more accurate the imputation is for the SNP.
These probabilities were directly incorporated into downstream statistical analyses within PLINK, rather than taking the most likely imputed genotype.
When more than one diplotype was possible for an individual, only the most likely imputed haplotypes were used in this analysis.
The SNP concordance rates, which were defined as fraction of identical genotypes between the most likely imputed and observed, were 0.9858 for EA and 0.9805 for AA (filtering imputed genotypes at posterior probability ≥ 0.9).
Pertinent to this study, GCTA was carried out using untransformed peer problem scores in each cohort and the most likely imputed as well as direct genotypes from autosomal SNPs (ALSPAC: NSNPs = 2,449,665, MAF ≥ 0.01, imputation accuracy MACH- R > 0.3; TEDS: NSNPs = 1,588,650 (MAF ≥ 0.01 and INFO > 0.7 score).
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In winner-takes-all, after the clean speech is imputed for each Gaussian belonging to state s, the mixture's likelihood is evaluated for all imputed values and the most likely imputation is selected as the imputation of the state.
In terms of highest minimum quality score, imputation based on reference haplotypes for all races (Scenario 2) was the "best"; however in terms of concordance between the observed and imputed most likely genotype, imputation based on race specific reference haplotypes was "best" (Scenario 1).
We used the imputed most likely genotypes for association analyses.
Two separate validation sets were considered, including the animals most likely to have their genotypes imputed in practice: the first with the 202 younger sires and the second with the dams.
In this study, the most likely genotypes were set as the imputed genotypes, but it is also possible to infer imputed genotypes from a posterior distribution provided by certain methods (such as the one based on HMM, IMPUTE) [5].
Analyses were performed to impute the most likely values of missing genotypes, and to calculate posterior genotype probabilities at all HapMap SNPs.
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