Abstract

BackgroundGenomic relationship matrices are used to obtain genomic inbreeding coefficients. However, there are several methodologies to compute these matrices and there is still an unresolved debate on which one provides the best estimate of inbreeding. In this study, we investigated measures of inbreeding obtained from five genomic matrices, including the Nejati-Javaremi allelic relationship matrix (FNEJ), the Li and Horvitz matrix based on excess of homozygosity (FL&H), and the VanRaden (methods 1, FVR1, and 2, FVR2) and Yang (FYAN) genomic relationship matrices. We derived expectations for each inbreeding coefficient, assuming a single locus model, and used these expectations to explain the patterns of the coefficients that were computed from thousands of single nucleotide polymorphism genotypes in a population of Iberian pigs.ResultsExcept for FNEJ, the evaluated measures of inbreeding do not match with the original definitions of inbreeding coefficient of Wright (correlation) or Malécot (probability). When inbreeding coefficients are interpreted as indicators of variability (heterozygosity) that was gained or lost relative to a base population, both FNEJ and FL&H led to sensible results but this was not the case for FVR1, FVR2 and FYAN. When variability has increased relative to the base, FVR1, FVR2 and FYAN can indicate that it decreased. In fact, based on FYAN, variability is not expected to increase. When variability has decreased, FVR1 and FVR2 can indicate that it has increased. Finally, these three coefficients can indicate that more variability than that present in the base population can be lost, which is also unreasonable. The patterns for these coefficients observed in the pig population were very different, following the derived expectations. As a consequence, the rate of inbreeding depression estimated based on these inbreeding coefficients differed not only in magnitude but also in sign.ConclusionsGenomic inbreeding coefficients obtained from the diagonal elements of genomic matrices can lead to inconsistent results in terms of gain and loss of genetic variability and inbreeding depression estimates, and thus to misleading interpretations. Although these matrices have proven to be very efficient in increasing the accuracy of genomic predictions, they do not always provide a useful measure of inbreeding.

Highlights

  • Genomic relationship matrices are used to obtain genomic inbreeding coefficients

  • The level of inbreeding has been estimated from molecular data, such as those contained in high-density single nucleotide polymorphism (SNP) arrays

  • Range of values and interpretation of the genomic inbreeding coefficients The inbreeding coefficients investigated differ in the range of values that they can contain and, with the exception of FNEJ, their ranges depend on the allele frequency in the base population p(0)

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Summary

Introduction

Genomic relationship matrices are used to obtain genomic inbreeding coefficients. There are several methodologies to compute these matrices and there is still an unresolved debate on which one provides the best estimate of inbreeding. The inbreeding coefficient of an individual has been determined based on its pedigree. The pedigree-based inbreeding coefficient provides only expected proportions of the genome that are identical-by-descent. Genomic inbreeding coefficients can be more accurate than pedigree-based measures because they capture the variation due to Mendelian sampling and can differentiate among individuals with the same pedigree Genomic measures allow us to differentiate inbreeding at specific regions of a genome, which is not possible with pedigree-based inbreeding

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