How imputation errors bias genomic predictions

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Abstract

The objective of this study was to investigate in detail the biasing effects of imputation errors on genomic predictions. Direct genomic values (DGV) of 3,494 Brown Swiss selection candidates for 37 production and conformation traits were predicted using either their observed 50K genotypes or their 50K genotypes imputed from a mimicked 6K chip. Changes in DGV caused by imputation errors were shown to be systematic. The DGV of top animals were, on average, underestimated and that of bottom animals were, on average, overestimated when imputed genotypes were used instead of observed genotypes. This pattern might be explained by the fact that imputation algorithms will usually suggest the most frequent haplotype from the sample whenever a haplotype cannot be determined unambiguously. That was empirically shown to cause an advantage for the bottom animals and a disadvantage for the top animals.

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Pimentel, E. C. G., Edel, C., Emmerling, R., & Götz, K. U. (2015). How imputation errors bias genomic predictions. Journal of Dairy Science, 98(6), 4131–4138. https://doi.org/10.3168/jds.2014-9170

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