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The feasibility of using low-density marker panels for genotype imputation and genomic prediction of crossbred dairy cattle of East Africa

机译:使用低密度标记板进行东非杂交奶牛的基因型估算和基因组预测的可行性

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摘要

Cost-effective high-density (HD) genotypes of livestock species can be obtained by genotyping a proportion of the population using a HD panel and the remainder using a cheaper low-density panel, and then imputing the missing genotypes that are not directly assayed in the low-density panel. The efficacy of genotype imputation can largely be affected by the structure and history of the specific target population and it should be checked before incorporating imputation in routine genotyping practices. Here, we investigated the efficacy of imputation in crossbred dairy cattle populations of East Africa using 4 different commercial single nucleotide polymorphisms (SNP) panels, 3 reference populations, and 3 imputation algorithms. We found that Minimac and a reference population, which included a mixture of crossbred and ancestral purebred animals, provided the highest imputation accuracy compared with other scenarios of imputation. The accuracies of imputation, measured as the correlation between real and imputed genotypes averaged across SNP, were around 0.76 and 0.94 for 7K and 40K SNP, respectively, when imputed up to a 770K panel. We also presented a method to maximize the imputation accuracy of low-density panels, which relies on the pair-wise (co)variances between SNP and the minor allele frequency of SNP. The performance of the developed method was tested in a 5-fold cross-validation process where various densities of SNP were selected using the (co)variance method and also by alternative SNP selection methods and then imputed up to the HD panel. The (co)variance method provided the highest imputation accuracies at almost all marker densities, with accuracies being up to 0.19 higher than the random selection of SNP. The accuracies of imputation from 7K and 40K panels selected using the (co)variance method were around 0.80 and 0.94, respectively. The presented method also achieved higher accuracy of genomic prediction at lower densities of selected SNP. The squared correlation between genomic breeding values estimated using imputed genotypes and those from the real 770K HD panel was 0.95 when the accuracy of imputation was 0.64. The presented method for SNP selection is straightforward in its application arid can ensure high accuracies in genotype imputation of crossbred dairy populations in East Africa.
机译:可以通过使用HD专家组对一部分人口进行基因分型,然后使用便宜的低密度专家组对其余种群进行基因分型,然后估算未在其中直接检测的缺失基因型,从而获得具有成本效益的牲畜物种高密度(HD)基因型。低密度面板。基因型插补的功效在很大程度上受特定目标人群的结构和历史的影响,因此应在将插补纳入常规基因分型方法之前进行检查。在这里,我们使用4种不同的商业单核苷酸多态性(SNP)面板,3个参考种群和3种插补算法调查了东非杂交奶牛种群中插补的功效。我们发现Minimac和一个参考种群(包括杂种和祖先纯种动物的混合物)提供了比其他插补方案更高的插补精度。以7K和40K SNP估算,推算到770K样本时,估算的准确度(通过SNP平均值计算的真实基因型和估算基因型之间的相关性)分别约为0.76和0.94。我们还提出了一种最大化低密度面板的插补准确度的方法,该方法依赖于SNP与SNP的次要等位基因频率之间的成对(协)方差。在5倍交叉验证过程中测试了开发方法的性能,该过程使用(协)方差法以及其他SNP选择方法选择了各种密度的SNP,然后将其估算到HD面板中。 (协)方差法在几乎所有标记密度下均提供了最高的插补精度,其准确性比随机选择SNP高出0.19。使用(协)方差法从7K和40K面板中选择的插补精度分别约为0.80和0.94。提出的方法还以较低的所选SNP密度实现了更高的基因组预测准确性。当估算的准确度为0.64时,使用估算的基因型估算的基因组育种值与实际770K HD面板估算的基因组育种值之间的平方相关为0.95。提出的SNP选择方法应用简单,可以确保东非杂交奶牛种群的基因型估算具有较高的准确性。

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