Use of the Illumina Bovine3K BeadChip in dairy genomic evaluation

Abstract

Genomic evaluations using genotypes from the Illumina Bovine3K BeadChip (3K) became available in September 2010 and were made official in December 2010. The majority of 3K-genotyped animals have been Holstein females. Approximately 5% of male 3K genotypes and between 3.7 and 13.9%, depending on registry status, of female genotypes had sire conflicts. The chemistry used for the 3K is different from that of the Illumina BovineSNP50 BeadChip (50K) and causes greater variability in the accuracy of the genotypes. Approximately 2% of genotypes were rejected due to this inaccuracy. A single nucleotide polymorphism (SNP) was determined to be not usable for genomic evaluation based on percentage missing, percentage of parent-progeny conflicts, and Hardy-Weinberg equilibrium discrepancies. Those edits left 2,683 of the 2,900 3K SNP for use in genomic evaluations. The mean minor allele frequencies (MAF) for Holstein, Jersey, and Brown Swiss were 0.32, 0.28, and 0.29, respectively. Eighty-one SNP had both a large number of missing genotypes and a large number of parent-progeny conflicts, suggesting a correlation between call rate and accuracy. To calculate a genomic predicted transmitting ability (GPTA) the genotype of an animal tested on a 3K is imputed to the 45,187 SNP included in the current genomic evaluation based on the 50K. The accuracy of imputation increases as the number of genotyped parents increases from none to 1 to both. The average percentage of imputed genotypes that matched the corresponding actual 50K genotypes was 96.3%. The correlation of a GPTA calculated from a 3K genotype that had been imputed to 50K and GPTA from its actual 50K genotype averaged 0.959 across traits for Holsteins and was slightly higher for Jerseys at 0.963. The average difference in GPTA from the 50K- and 3K-based genotypes across trait was close to 0. The evaluation system has been modified to accommodate the characteristics of the 3K. The low cost of the 3K has greatly increased genotyping of females. Prior to the availability of the 3K (August 2010), female genotyping accounted for 38.7% of the genotyped animals. In the past year, the portion of total genotypes from females across all chip types rose to 59.0%.