Department of Animal Breeding and Genetics, Agricultural Research Council, Irene, South Africa.
Department of Animal, Wildlife and Grassland Sciences, University of the Free State, Bloemfontein, South Africa.
Trop Anim Health Prod. 2022 Feb 8;54(2):90. doi: 10.1007/s11250-022-03102-0.
Imputation may be used to rescue genomic data from animals that would otherwise be eliminated due to a lower than desired call rate. The aim of this study was to compare the accuracy of genotype imputation for Afrikaner, Brahman, and Brangus cattle of South Africa using within- and multiple-breed reference populations. A total of 373, 309, and 101 Afrikaner, Brahman, and Brangus cattle, respectively, were genotyped using the GeneSeek Genomic Profiler 150 K panel that contained 141,746 markers. Markers with MAF ≤ 0.02 and call rates ≤ 0.95 or that deviated from Hardy Weinberg Equilibrium frequency with a probability of ≤ 0.0001 were excluded from the data as were animals with a call rate ≤ 0.90. The remaining data included 99,086 SNPs and 360 Afrikaner, 75,291 SNPs and 288 animals Brahman, and 97,897 SNPs and 99 Brangus animals. A total of 7986, 7002, and 7000 SNP from 50 Afrikaner and Brahman and 30 Brangus cattle, respectively, were masked and then imputed using BEAGLE v3 and FImpute v2. The within-breed imputation yielded accuracies ranging from 89.9 to 96.6% for the three breeds. The multiple-breed imputation yielded corresponding accuracies from 69.21 to 88.35%. The results showed that population homogeneity and numerical representation for within and across breed strategies, respectively, are crucial components for improving imputation accuracies.
可以使用插补法从由于低于期望的呼叫率而可能被淘汰的动物中抢救基因组数据。本研究的目的是使用南非的阿非利卡牛、婆罗门牛和无角红牛的内部和多品种参考群体来比较基因型插补的准确性。分别对 373、309 和 101 头阿非利卡牛、婆罗门牛和无角红牛进行基因分型,使用的是包含 141746 个标记的 GeneSeek Genomic Profiler 150K 面板。将 MAF≤0.02 和呼叫率≤0.95 的标记或偏离 Hardy-Weinberg 平衡频率概率≤0.0001 的标记以及呼叫率≤0.90 的动物从数据中排除。其余数据包括 99086 个 SNP 和 360 头阿非利卡牛、75291 个 SNP 和 288 头婆罗门牛和 97897 个 SNP 和 99 头无角红牛。从 50 头阿非利卡牛和婆罗门牛和 30 头无角红牛中分别屏蔽了总共 7986、7002 和 7000 个 SNP,然后使用 BEAGLE v3 和 FImpute v2 进行插补。三种品种的内部品种插补的准确性范围为 89.9%至 96.6%。多品种插补的相应准确性为 69.21%至 88.35%。结果表明,群体同质性和数值表示分别是内部和跨品种策略提高插补准确性的关键组成部分。