A phasing and imputation method for pedigreed populations that results in a single-stage genomic evaluation

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Abstract

Background: Efficient, robust, and accurate genotype imputation algorithms make large-scale application of genomic selection cost effective. An algorithm that imputes alleles or allele probabilities for all animals in the pedigree and for all genotyped single nucleotide polymorphisms (SNP) provides a framework to combine all pedigree, genomic, and phenotypic information into a single-stage genomic evaluation. Methods: An algorithm was developed for imputation of genotypes in pedigreed populations that allows imputation for completely ungenotyped animals and for low-density genotyped animals, accommodates a wide variety of pedigree structures for genotyped animals, imputes unmapped SNP, and works for large datasets. The method involves simple phasing rules, long-range phasing and haplotype library imputation and segregation analysis. Results: Imputation accuracy was high and computational cost was feasible for datasets with pedigrees of up to 25 000 animals. The resulting single-stage genomic evaluation increased the accuracy of estimated genomic breeding values compared to a scenario in which phenotypes on relatives that were not genotyped were ignored. Conclusions: The developed imputation algorithm and software and the resulting single-stage genomic evaluation method provide powerful new ways to exploit imputation and to obtain more accurate genetic evaluations. © 2012 Hickey et al.; licensee BioMed Central Ltd.

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Hickey, J. M., Kinghorn, B. P., Tier, B., Van Der Werf, J. H., & Cleveland, M. A. (2012). A phasing and imputation method for pedigreed populations that results in a single-stage genomic evaluation. Genetics Selection Evolution, 44(1). https://doi.org/10.1186/1297-9686-44-9

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