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Incorporating genomic annotation into single-step genomic prediction with imputed whole-genome sequence data
TENG Jin-yan, YE Shao-pan, GAO Ning, CHEN Zi-tao, DIAO Shu-qi, LI Xiu-jin, YUAN Xiao-long, ZHANG Hao, LI Jia-qi, ZHANG Xi-quan, ZHANG Zhe
2022, 21 (4): 1126-1136.   DOI: 10.1016/S2095-3119(21)63813-3
Abstract197)      PDF in ScienceDirect      
Single-step genomic best linear unbiased prediction (ssGBLUP) is now intensively investigated and widely used in livestock breeding due to its beneficial feature of combining information from both genotyped and ungenotyped individuals in the single model.  With the increasing accessibility of whole-genome sequence (WGS) data at the population level, more attention is being paid to the usage of WGS data in ssGBLUP.  The predictive ability of ssGBLUP using WGS data might be improved by incorporating biological knowledge from public databases.  Thus, we extended ssGBLUP, incorporated genomic annotation information into the model, and evaluated them using a yellow-feathered chicken population as the examples.  The chicken population consisted of 1 338 birds with 23 traits, where imputed WGS data including 5 127 612 single nucleotide polymorphisms (SNPs) are available for 895 birds.  Considering different combinations of annotation information and models, original ssGBLUP, haplotype-based ssGHBLUP, and four extended ssGBLUP incorporating genomic annotation models were evaluated.  Based on the genomic annotation (GRCg6a) of chickens, 3 155 524 and 94 837 SNPs were mapped to genic and exonic regions, respectively.  Extended ssGBLUP using genic/exonic SNPs outperformed other models with respect to predictive ability in 15 out of 23 traits, and their advantages ranged from 2.5 to 6.1% compared with original ssGBLUP.  In addition, to further enhance the performance of genomic prediction with imputed WGS data, we investigated the genotyping strategies of reference population on ssGBLUP in the chicken population.  Comparing two strategies of individual selection for genotyping in the reference population, the strategy of evenly selection by family (SBF) performed slightly better than random selection in most situations.  Overall, we extended genomic prediction models that can comprehensively utilize WGS data and genomic annotation information in the framework of ssGBLUP, and validated the idea that properly handling the genomic annotation information and WGS data increased the predictive ability of ssGBLUP.  Moreover, while using WGS data, the genotyping strategy of maximizing the expected genetic relationship between the reference and candidate population could further improve the predictive ability of ssGBLUP.  The results from this study shed light on the comprehensive usage of genomic annotation information in WGS-based single-step genomic prediction.

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Identifying the complex genetic architecture of growth and fatness traits in a Duroc pig population
ZHANG Zhe, CHEN Zi-tao, DIAO Shu-qi, YE Shao-pan, WANG Jia-ying, GAO Ning, YUAN Xiao-long, CHEN Zan-mou, ZHANG Hao, LI Jia-qi
2021, 20 (6): 1607-1614.   DOI: 10.1016/S2095-3119(20)63264-6
Abstract185)      PDF in ScienceDirect      
In modern pig breeding programs, growth and fatness are vital economic traits that significantly influence porcine production.  To identify underlying variants and candidate genes associated with growth and fatness traits, a total of 1 067 genotyped Duroc pigs with de-regressed estimated breeding values (DEBV) records were analyzed in a genome wide association study (GWAS) by using a single marker regression model.  In total, 28 potential single nucleotide polymorphisms (SNPs) were associated with these traits of interest.  Moreover, VPS4B, PHLPP1, and some other genes were highlighted as functionally plausible candidate genes that compose the underlying genetic architecture of porcine growth and fatness traits.  Our findings contribute to a better understanding of the genetic architectures underlying swine growth and fatness traits that can be potentially used in pig breeding programs. 
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