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Reliability of genomic evaluations in Holstein-Friesians using haplotypes based on the BovineHD BeadChip

机译:使用基于BovineHD BeadChip的单倍型在Holstein-Friesians中进行基因组评估的可靠性

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The objectives of this study were to make subsets of high-density (HD) loci based on localized haplotype clusters, without loss of genomic information, to reduce computing time compared with the use of all HD loci and to investigate the effect on the reliability of the direct genomic value (DGV) when using this HD subset based on localized haplotype clusters in the genomic evaluation for Holstein-Friesians. The DNA was isolated from semen samples of 548 bulls (key ancestors) of the EuroGenomics Consortium, a collaboration between 4 European dairy cattle breeding organizations and scientific partners. These bulls were genotyped with the BovineHD BeadChip [~777,000 (777K) single nucleo-tide polymorphisms (SNP); Illumina Inc., San Diego, CA] and used to impute all 30,483 Holstein-Friesians from the BovineSNP50 BeadChip [-50,000 (50K) SNP; Illumina Inc.] to HD, using the BEAGLE software package. The final data set consisted of 30,483 animals and 603,145 SNP. For each locus, localized haplotype clusters (i.e., edges of the fitted graph model) identifications were obtained from BEAGLE. Three subsets [38,000 (38K), 116,000 (116K), and 322,000 (322K) loci] were made based on deleting obsolete loci (i.e., loci that do not give extra information compared with the neighboring loci). A fourth data set was based on 38K SNP, which is currently used for routine genomic evaluation at the Cattle Improvement Cooperative (CRV, Arnhem, the Netherlands). A validation study using the HD loci subsets based on localized haplotype clusters was performed for 9 traits (production, conformation, and functional traits). Error of imputation from 50K to HD averaged 0.78%. Three thresholds (0.17, 0.05, and 0.008%) were used for the identification of obsolete HD loci based on localized haplotype clusters to obtain a desired number of HD loci (38K, 116K, and 322K). On average, 46% (using threshold 0.008%) to 93% (using threshold 0.17%) of HD loci were eliminated. The computing time was about 9 d for 38K loci, 15.5 d for 116K loci, 21 d for 322K loci, and 7.5 d for 38K SNP. The increase in reliability of DGV compared with pedigree-based estimated breeding values for kilograms of protein was similar for 322K and 116K loci (30.7%), but was 1.5 to 2% higher compared with 38K loci and 38K SNP. Averaged over 9 traits, subset 116K loci resulted in a higher increase in reliability compared with 38K loci and 38K SNP. Eliminating obsolete loci enormously decreased the amount of data to be analyzed for genomic evaluations. The more HD loci used in a genomic evaluation, the higher the increase in reliability of DGV. It is possible to increase the reliability of DGV by 1 to 2% compared with the SNP currently used for routine genomic evaluation.
机译:这项研究的目的是在不丢失基因组信息的情况下,基于局部单倍型簇来制作高密度(HD)基因座的子集,与使用所有HD基因座相比,减少计算时间,并研究其对可靠性的影响。在基于Holstein-Friesians的基因组评估中使用基于局部单倍型簇的HD子集时的直接基因组值(DGV)。该DNA是从欧洲基因组学协会(EuroGenomics Consortium)的548头公牛(主要祖先)的精液样本中分离出来的,该基因组是由4个欧洲奶牛育种组织和科学合作伙伴共同开发的。这些牛用BovineHD BeadChip [〜777,000(777K)单核苷酸多态性(SNP)进行基因分型。 Illumina Inc.,San Diego,CA],并曾从BovineSNP50 BeadChip [-50,000(50K)SNP]推算所有30,483个荷斯坦-弗里斯兰人;使用BEAGLE软件包将其转换为HD。最终数据集包括30,483只动物和603,145个SNP。对于每个基因座,从BEAGLE获得了局部单倍体簇(即拟合图模型的边缘)的标识。基于删除过时的基因座(即与相邻基因座相比不提供额外信息的基因座),制作了三个子集[38,000(38K),116,000(116K)和322,000(322K)个基因座)。第四个数据集基于38K SNP,目前已被牛改良合作社(CRV,阿纳姆,荷兰)用于常规基因组评估。对基于9个性状(生产,构象和功能性状)的基于本地单倍型簇的HD基因座子集进行了验证研究。从50K到HD的估算误差平均为0.78%。三个阈值(0.17、0.05和0.008%)用于基于局部单倍型簇的过时HD基因座的鉴定,以获得所需数量的HD基因座(38K,116K和322K)。平均而言,消除了46%(使用阈值0.008%)至93%(使用阈值0.17%)的HD基因座。 38K位点的计算时间约为9 d,116K位点的计算时间约为15.5 d,322K位点的计算时间为21 d,38K SNP的计算时间为7.5 d。与基于谱系的估计的千克蛋白质育种值相比,DGV的可靠性增加在322K和116K位点(30.7%)上相似,但与38K位点和38K SNP相比提高了1.5至2%。平均超过9个性状,与38K基因座和38K SNP相比,子集116K基因座导致可靠性提高。消除过时的基因座极大地减少了需要进行基因组评估的数据量。基因组评估中使用的HD基因座越多,DGV可靠性的增加就越大。与当前用于常规基因组评估的SNP相比,可以将DGV的可靠性提高1-2%。

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