The objective of this study was to evaluate the effect of imputation of single nucleotide polymorphisms (SNP) on the estimation of genomic inbreeding coefficients. Imputed genotypes of 68,127 Italian Holstein dairy cows were analyzed. Cows were initially genotyped with two high density (HD) SNP panels, namely the Illumina Infinium BovineHD BeadChip (678 cows; 777,962 SNP) and the Genomic Profiler HD-150K (641 cows; 139,914 SNP), and four medium density (MD): GeneSeek Genomic Profiler 3 (10,679 cows; 26,151 SNP), GeneSeek Genomic Profiler 4 (33,394 cows; 30,113 SNP), GeneSeek MD (12,030 cows; 47,850 SNP) and the Labogena MD (10,705 cows; 41,911 SNP). After imputation, all cows had genomic information on 84,445 SNP. Seven genomic inbreeding estimators were tested: (i) four PLINK v1.9 estimators (F, F-hat1,F-2,F-3), (ii) two genomic relationship matrix (grm) estimators [VanRaden's 1(st) method, but with observed allele frequencies (F-grm) and VanRaden's 3(rd) method that is allelic free and pedigree dependent (F-grm2)], and (iii) a runs of homozygosity (roh) - based estimator (F-roh). Genomic inbreeding coefficients of each SNP panel were compared with genomic inbreeding coefficients derived from the 84,445 imputation SNP. Coefficients of the HD SNP panels were consistent between genotyped-imputed SNP (Pearson correlations similar to 99%), while variability across SNP panels and estimators was observed in the MD SNP panels, with Labogena MD providing, on average, more consistent estimates. The robustness of Labogena MD, can be partly explained by the fact that 97.85% of the SNP of this panel is included in the 84,445 SNP selected by ANAFIBJ for routine genomic imputations, while this percentage for the other MD SNP panels varied between 55 and 60%. Runs of homozygosity was the most robust estimator. Genomic inbreeding estimates using imputation SNP are influenced by the SNP number of the SNP panel that are included in the imputed SNP, and performance of genomic inbreeding estimators depends on the imputation.

Genomic inbreeding coefficients using imputed genotypes: assessing differences among SNP panels in Holstein-Friesian dairy cows / Dadousis, Christos; Ablondi, Michela; Cipolat-Gotet, Claudio; van Kaam, Jan-Thijs; Finocchiaro, Raffaella; Marusi, Maurizio; Cassandro, Martino; Sabbioni, Alberto; Summer, Andrea. - In: FRONTIERS IN VETERINARY SCIENCE. - ISSN 2297-1769. - 10:(2023), p. 1142476. [10.3389/fvets.2023.1142476]

Genomic inbreeding coefficients using imputed genotypes: assessing differences among SNP panels in Holstein-Friesian dairy cows

Dadousis, Christos;Ablondi, Michela;Cipolat-Gotet, Claudio;Sabbioni, Alberto;Summer, Andrea
2023-01-01

Abstract

The objective of this study was to evaluate the effect of imputation of single nucleotide polymorphisms (SNP) on the estimation of genomic inbreeding coefficients. Imputed genotypes of 68,127 Italian Holstein dairy cows were analyzed. Cows were initially genotyped with two high density (HD) SNP panels, namely the Illumina Infinium BovineHD BeadChip (678 cows; 777,962 SNP) and the Genomic Profiler HD-150K (641 cows; 139,914 SNP), and four medium density (MD): GeneSeek Genomic Profiler 3 (10,679 cows; 26,151 SNP), GeneSeek Genomic Profiler 4 (33,394 cows; 30,113 SNP), GeneSeek MD (12,030 cows; 47,850 SNP) and the Labogena MD (10,705 cows; 41,911 SNP). After imputation, all cows had genomic information on 84,445 SNP. Seven genomic inbreeding estimators were tested: (i) four PLINK v1.9 estimators (F, F-hat1,F-2,F-3), (ii) two genomic relationship matrix (grm) estimators [VanRaden's 1(st) method, but with observed allele frequencies (F-grm) and VanRaden's 3(rd) method that is allelic free and pedigree dependent (F-grm2)], and (iii) a runs of homozygosity (roh) - based estimator (F-roh). Genomic inbreeding coefficients of each SNP panel were compared with genomic inbreeding coefficients derived from the 84,445 imputation SNP. Coefficients of the HD SNP panels were consistent between genotyped-imputed SNP (Pearson correlations similar to 99%), while variability across SNP panels and estimators was observed in the MD SNP panels, with Labogena MD providing, on average, more consistent estimates. The robustness of Labogena MD, can be partly explained by the fact that 97.85% of the SNP of this panel is included in the 84,445 SNP selected by ANAFIBJ for routine genomic imputations, while this percentage for the other MD SNP panels varied between 55 and 60%. Runs of homozygosity was the most robust estimator. Genomic inbreeding estimates using imputation SNP are influenced by the SNP number of the SNP panel that are included in the imputed SNP, and performance of genomic inbreeding estimators depends on the imputation.
2023
Genomic inbreeding coefficients using imputed genotypes: assessing differences among SNP panels in Holstein-Friesian dairy cows / Dadousis, Christos; Ablondi, Michela; Cipolat-Gotet, Claudio; van Kaam, Jan-Thijs; Finocchiaro, Raffaella; Marusi, Maurizio; Cassandro, Martino; Sabbioni, Alberto; Summer, Andrea. - In: FRONTIERS IN VETERINARY SCIENCE. - ISSN 2297-1769. - 10:(2023), p. 1142476. [10.3389/fvets.2023.1142476]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2948535
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