Abstract
BackgroundParentage assignment is usually based on a limited number of unlinked, independent genomic markers (microsatellites, low-density single nucleotide polymorphisms (SNPs), etc.). Classical methods for parentage assignment are exclusion-based (i.e. based on loci that violate Mendelian inheritance) or likelihood-based, assuming independent inheritance of loci. For true parent–offspring relations, genotyping errors cause apparent violations of Mendelian inheritance. Thus, the maximum proportion of such violations must be determined, which is complicated by variable call- and genotype error rates among loci and individuals. Recently, genotyping using high-density SNP chips has become available at lower cost and is increasingly used in genetics research and breeding programs. However, dense SNPs are not independently inherited, violating the assumptions of the likelihood-based methods. Hence, parentage assignment usually assumes a maximum proportion of exclusions, or applies likelihood-based methods on a smaller subset of independent markers. Our aim was to develop a fast and accurate trio parentage assignment method for dense SNP data without prior genotyping error- or call rate knowledge among loci and individuals. This genomic relationship likelihood (GRL) method infers parentage by using genomic relationships, which are typically used in genomic prediction models.ResultsUsing 50 simulated datasets with 53,427 to 55,517 SNPs, genotyping error rates of 1–3% and call rates of ~ 80 to 98%, GRL was found to be fast and highly (~ 99%) accurate for parentage assignment. An iterative approach was developed for training using the evaluation data, giving similar accuracy. For comparison, we used the Colony2 software that assigns parentage and sibship simultaneously to increase the power of the likelihood-based method and found that it has considerably lower accuracy than GRL. We also compared GRL with an exclusion-based method in which one of the parameters was estimated using GRL assignments.This method was slightly more accurate than GRL.ConclusionsWe show that GRL is a fast and accurate method of parentage assignment that can use dense, non-independent SNPs, with variable call rates and unknown genotyping error rates. By offering an alternative way of assigning parents, GRL is also suitable for estimating the expected proportion of inconsistent parent–offspring genotypes for exclusion-based models.
Highlights
Parentage assignment is usually based on a limited number of unlinked, independent genomic markers (microsatellites, low-density single nucleotide polymorphisms (SNPs), etc.)
For dense SNP chip data, the assumption of independent inheritance among loci is not realistic, which may lead to inflated likelihood ratio (LR) values when using conventional likelihood-based methods
Assignment results using Colony2 are shown in Fig. 2, and the analogous genomic relationship likelihood (GRL)- and binomial exclusion method (BEM) results are shown in Figs. 3 and 4
Summary
Parentage assignment is usually based on a limited number of unlinked, independent genomic markers (microsatellites, low-density single nucleotide polymorphisms (SNPs), etc.). Our aim was to develop a fast and accurate trio parentage assignment method for dense SNP data without prior genotyping error- or call rate knowledge among loci and individuals. This genomic relationship likelihood (GRL) method infers parentage by using genomic relationships, which are typically used in genomic prediction models. Likelihood-based methods have higher power than exclusion-based methods, but their interpretation is more complicated Both likelihood- and exclusion-based models usually assume known and homogenous genotype error rates and independent loci, and do not account for variation in genotype call rates [5, 7, 8], which are all important assumptions when working with high-density SNP data. For dense SNP chip data, the assumption of independent inheritance among loci is not realistic (i.e., alleles are inherited on large DNA segments), which may lead to inflated LR values when using conventional likelihood-based methods
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