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For studies that did not report reliabilities, we imputed reliability from the sample-weighted mean reliability of other studies that involved the same variables (e.g. Hunter and Schmidt 2004).
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Reliabilities expected with larger reference populations and larger marker densities are in Figure 4. Expectations in the graph are for yield traits using a single density, but combined densities instead allow genotypes to be imputed, bringing reliabilities much closer to those possible when all animals are genotyped at highest density.
An important factor that influences imputation reliability is the LD between the imputed SNP and the SNP on the lower density marker panel.
To our knowledge, there is no theoretical function that describes the relationship between imputation reliability or LD and MAF of imputed SNPs or number of reference individuals.
Linkage disequilibrium between an imputed SNP and the SNP on the lower density panel, minor allele frequency of the imputed SNP and size of the reference group affected imputation reliability.
With such a low threshold, there is still uncertainty about the genotype calling of imputed SNPs and potential causal mutations, although the mean imputation reliability was equal to 0.77.
However, when these functions were combined with an empirical derived function that corrects for MAF of the imputed SNPs and size of the reference group, estimation of imputation reliability was greatly improved.
Therefore, it is important to understand the underlying factors that affect imputation reliability and to take those factors into account when imputing genotypes.
When these functions were combined with an empirical derived function that corrects for MAF of the imputed SNPs and size of the reference group, a much better indication of imputation reliability was obtained but it was still not perfect.
In this study, SNPs that were likely to be imputed incorrectly were removed from the genotype dataset, using a low threshold of 0.05 for estimated imputation reliability to minimize the risk of removing potential causal mutations.
Our results show that functions that estimate LD based on distance only or on the difference in MAF between the imputed SNP and the closest SNP on the lower density marker panel did not provide a good indication of imputation reliability.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com