Allais, S. | bioRxiv Science

bioRxiv2024

Variant calling and genotyping accuracy of ddRAD-seq: comparison with 20X WGS in layers

Whole Genome Sequencing (WGS) remains a costly or unsuitable method for routine genotyping of laying hens methods, thus alternatives have been developed. Among these, reduced representation sequencing approaches can offer both sequencing quality and cost-effectiveness by reducing the genomic regions covered by sequencing. The aim of this study was to evaluate the ability of double digested Restriction site Associated DNA sequencing (ddRAD-seq) to identify and genotype SNPs in laying hens, by comparison with a presumed reliable WGS approach. Firstly, the sensitivity and precision of variant calling and the genotyping reliability of ddRADseq were determined. Next, the SNP Call Rate (CRSNP) and mean depth of sequencing per SNP (DPSNP) were compared between both methods. Finally, the effect of multiple combinations of thresholds for these parameters on genotyping reliability and amount of remaining SNPs in ddRAD-seq was studied. In raw form, the ddRAD-seq identified 349,497 SNPs evenly distributed on the genome with a CRSNP of 0.55, a DPSNP of 11X and a mean genotyping reliability rate per SNP of 80%. Considering genomic regions covered by expected enzymatic fragments (EFs), the sensitivity of the ddRAD-seq was estimated at 32.4% and its precision at 96.4%. The low CRSNP and DPSNP values were explained by the detection of SNPs outside the EFs theoretically generated by the ddRAD-seq protocol. Indeed, SNPs outside the EFs had significantly lower CRSNP (0.25) and DPSNP (1X) values than SNPs within the EFs (0.7 and 17X, resp.). The study demonstrated the relationship between CRSNP, DPSNP, genotyping reliability and the number of SNPs retained, to provide a decision-support tool for defining filtration thresholds. Severe quality control over ddRAD-seq data allowed to retain a minimum of 40% of the SNPs with a CcR of 98%. Then, ddRAD-seq was defined as a suitable method for variant calling and genotyping in layers.

genomics↗

bioRxiv2019

Relevance of genomic evaluation for egg quality traits in layers

BackgroundGenomic evaluation, based on thousands of genetic markers, has become the standard evaluation methodology in dairy cattle breeding programs over the past few years. Despite the many differences between dairy cattle breeding and poultry breeding, genomic selection seems very promising for the avian sector, and studies are currently being conducted to optimize avian selection schemes. In this optimization perspective, one of the key parameters is to properly predict the accuracy of genomic evaluation in pure line layers.\n\nMethodsBoth genetic evaluation and genomic evaluation were performed on three candidate populations (male and female), using different sizes of phenotypic records on five egg quality traits and at two different ages. The methodologies used were BLUP & ssGBLUP, and variance-covariance matrices were estimated through REML. To estimate evaluation accuracy, the LR method was implemented. Four statistics were used to assess the relative accuracy of the estimated breeding values of candidates, their bias and dispersion, as well as the differences between genetic evaluation and genomic evaluation.\n\nResultsIt was observed that genomic evaluation, whether performed on males or females, always proved more accurate than genetic evaluation. The gain was higher when phenotypic information was narrowed and an augmentation of the size of the reference population led to an increase in accuracy prediction, for what regards genomic evaluation. By taking into account the increase of selection intensity and the decrease of the generation interval induced by genomic selection, the expected annual genetic gain would be higher with ancestry-based genomic evaluation of male candidates than with genetic evaluation based on collaterals. This advantage of genomic selection over genetic selection requires to be studied in more details for female candidates.\n\nConclusionsIn conclusion, in the population studied, genomic evaluation for egg quality traits of breeding birds at birth seems a promising strategy, at least for what regards males selection.

genomics↗