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基因组评估的现状。

Current status of genomic evaluation.

机构信息

Department of Animal and Dairy Science, University of Georgia, Athens, GA.

Department of Animal Genetics, Institut National de la Recherche Agronomique, Castanet-Tolosan, France.

出版信息

J Anim Sci. 2020 Apr 1;98(4). doi: 10.1093/jas/skaa101.

Abstract

Early application of genomic selection relied on SNP estimation with phenotypes or de-regressed proofs (DRP). Chips of 50k SNP seemed sufficient for an accurate estimation of SNP effects. Genomic estimated breeding values (GEBV) were composed of an index with parent average, direct genomic value, and deduction of a parental index to eliminate double counting. Use of SNP selection or weighting increased accuracy with small data sets but had minimal to no impact with large data sets. Efforts to include potentially causative SNP derived from sequence data or high-density chips showed limited or no gain in accuracy. After the implementation of genomic selection, EBV by BLUP became biased because of genomic preselection and DRP computed based on EBV required adjustments, and the creation of DRP for females is hard and subject to double counting. Genomic selection was greatly simplified by single-step genomic BLUP (ssGBLUP). This method based on combining genomic and pedigree relationships automatically creates an index with all sources of information, can use any combination of male and female genotypes, and accounts for preselection. To avoid biases, especially under strong selection, ssGBLUP requires that pedigree and genomic relationships are compatible. Because the inversion of the genomic relationship matrix (G) becomes costly with more than 100k genotyped animals, large data computations in ssGBLUP were solved by exploiting limited dimensionality of genomic data due to limited effective population size. With such dimensionality ranging from 4k in chickens to about 15k in cattle, the inverse of G can be created directly (e.g., by the algorithm for proven and young) at a linear cost. Due to its simplicity and accuracy, ssGBLUP is routinely used for genomic selection by the major chicken, pig, and beef industries. Single step can be used to derive SNP effects for indirect prediction and for genome-wide association studies, including computations of the P-values. Alternative single-step formulations exist that use SNP effects for genotyped or for all animals. Although genomics is the new standard in breeding and genetics, there are still some problems that need to be solved. This involves new validation procedures that are unaffected by selection, parameter estimation that accounts for all the genomic data used in selection, and strategies to address reduction in genetic variances after genomic selection was implemented.

摘要

早期的基因组选择应用依赖于基于表型或去回归证明 (DRP) 的 SNP 估计。50k SNP 的芯片似乎足以准确估计 SNP 效应。基因组估计育种值 (GEBV) 由父母平均值、直接基因组值和扣除父母指数组成,以消除重复计数。使用 SNP 选择或加权可以提高小数据集的准确性,但对大数据集的影响最小或没有。利用源自序列数据或高密度芯片的潜在因果 SNP 的努力显示出准确性有限或没有提高。基因组选择实施后,由于基因组预选,BLUP 的 EBV 产生偏差,并且基于 EBV 计算的 DRP 需要调整,并且为雌性创建 DRP 很困难并且容易重复计数。通过单步基因组 BLUP(ssGBLUP)极大地简化了基因组选择。这种基于结合基因组和系谱关系的方法自动创建一个包含所有信息源的指数,可以使用任何雄性和雌性基因型组合,并考虑到预选。为了避免偏差,特别是在强烈选择下,ssGBLUP 要求系谱和基因组关系兼容。由于超过 100k 个已基因分型的动物的基因组关系矩阵 (G) 的反转成本很高,因此 ssGBLUP 中的大数据计算通过利用由于有效群体规模有限而导致的基因组数据的有限维度来解决。由于这种维度范围从鸡的 4k 到牛的约 15k,G 的逆可以直接创建(例如,通过已证明和年轻的算法),成本线性。由于其简单性和准确性,ssGBLUP 被主要的鸡、猪和牛肉行业常规用于基因组选择。单步可以用于间接预测和全基因组关联研究衍生 SNP 效应,包括 P 值的计算。存在替代的单步公式,用于对已基因分型或所有动物的 SNP 效应进行使用。尽管基因组学是育种和遗传学的新标准,但仍有一些需要解决的问题。这涉及不受选择影响的新验证程序、考虑到选择中使用的所有基因组数据的参数估计以及在实施基因组选择后解决遗传方差减少的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2014/7183352/fdbd1d7ad0cb/skaa101f0001.jpg

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