Genomic inbreeding coefficients using imputation genotypes: assessing the effect of ancestral genotyping in Holstein-Friesian dairy cows

Abstract

The objective of this study was to assess the effect of using or not the genotypes of the parents of a cow for imputing single nucleotide polymorphisms (SNP), on the estimation of genomic inbreeding coefficients of cows. Imputation (i.e., genotyped plus imputed) genotypes from 68,127 Italian Holstein dairy cows registered in the Italian National Association of Holstein, Brown and Jersey Breeders (ANAFIBJ) were analyzed. Cows were genotyped with the HD Illumina Infinium BovineHD BeadChip and GeneSeek Genomic Profiler HD-150K, and the MD GeneSeek Genomic Profiler 3, GeneSeek Genomic Profiler 4, GeneSeek MD and the Labogena MD. To assess differences among estimators genomic inbreeding coefficients were estimated with 4 PLINK v1.9 estimators (F, Fhat1, 2, 3), 2 genomic relationship matrix (grm) based estimators (Fgrm and Fgrm2; with the latter including also pedigree information) and one estimator of runs of homozygosity (ROH; FROH). Assuming that the correct genomic inbreeding coefficients should be those estimated from genotyped SNP, a comparison of the genomic inbreeding coefficients estimated either with the genotyped SNP or the SNP after imputation was made. Information on the presence or absence of genotypic information from sire, dam and maternal grandsire during the imputation was investigated. Genomic inbreeding coefficients estimated with genotyped SNP or SNP after imputation were consistent for F, Fhat3, Fgrm2 and FROH, when at least one of the parents was genotyped. Biased (mainly higher) genomic inbreeding coefficients of imputation SNP were observed in cows that were genotyped with MD SNP panels whose SNP were poorly represented in the selected imputation SNP data set and also did not have their parents genotyped compared with what expected based on actual genotype data. For cows genotyped with MD the estimators Fhat1, Fhat2 and Fgrm provided higher genomic inbreeding coefficients of imputation SNP even with both parents and the maternal grandsire genotyped. Overall, FROH was the most robust estimator, followed by F and Fhat3. Our findings suggest that SNP selection, parental genotyping and estimator should be considered for designing imputation strategies in dairy cattle for estimating genomic inbreeding with imputation SNP. For computing genomic inbreeding coefficients, it is recommendable to have at least one parent genotyped and use an ROH based estimator.