Current status of genomic evaluation

• Published in: Journal of animal science Vol. 98; no. 4
• Main Authors: Misztal, Ignacy, Lourenco, Daniela, Legarra, Andres
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 01.04.2020; American Society of Animal Science
• Subjects: Biochemistry, Molecular Biology; Board Invited Review; Genomics; Life Sciences; genomic selection; large data; genomic evaluation; single-step GBLUP
• ISSN: 0021-8812; 1525-3163; 1525-3015; 1544-7847; 1525-3163
• DOI: 10.1093/jas/skaa101

Abstract Early application of genomic selection relied on SNP estimation with phenotypes or de-regressed proofs (DRP). Chips of 50k SNP seemed sufficient for an accurate estimation of SNP effects. Genomic estimated breeding values (GEBV) were composed of an index with parent average, direct genomic value, and deduction of a parental index to eliminate double counting. Use of SNP selection or weighting increased accuracy with small data sets but had minimal to no impact with large data sets. Efforts to include potentially causative SNP derived from sequence data or high-density chips showed limited or no gain in accuracy. After the implementation of genomic selection, EBV by BLUP became biased because of genomic preselection and DRP computed based on EBV required adjustments, and the creation of DRP for females is hard and subject to double counting. Genomic selection was greatly simplified by single-step genomic BLUP (ssGBLUP). This method based on combining genomic and pedigree relationships automatically creates an index with all sources of information, can use any combination of male and female genotypes, and accounts for preselection. To avoid biases, especially under strong selection, ssGBLUP requires that pedigree and genomic relationships are compatible. Because the inversion of the genomic relationship matrix (G) becomes costly with more than 100k genotyped animals, large data computations in ssGBLUP were solved by exploiting limited dimensionality of genomic data due to limited effective population size. With such dimensionality ranging from 4k in chickens to about 15k in cattle, the inverse of G can be created directly (e.g., by the algorithm for proven and young) at a linear cost. Due to its simplicity and accuracy, ssGBLUP is routinely used for genomic selection by the major chicken, pig, and beef industries. Single step can be used to derive SNP effects for indirect prediction and for genome-wide association studies, including computations of the P-values. Alternative single-step formulations exist that use SNP effects for genotyped or for all animals. Although genomics is the new standard in breeding and genetics, there are still some problems that need to be solved. This involves new validation procedures that are unaffected by selection, parameter estimation that accounts for all the genomic data used in selection, and strategies to address reduction in genetic variances after genomic selection was implemented.