Wang Xiao, Lund Mogens Sandø, Ma Peipei, Janss Luc, Kadarmideen Haja N, Su Guosheng
1Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, Tjele, Denmark.
2Department of Bio and Health Informatics and Department of Applied Mathematics and Computer Science, Technical University of Denmark, Kongens Lyngby, Denmark.
J Anim Sci Biotechnol. 2019 Jan 24;10:8. doi: 10.1186/s40104-019-0315-z. eCollection 2019.
Genotyping by sequencing (GBS) is a robust method to genotype markers. Many factors can influence the genotyping quality. One is that heterozygous genotypes could be wrongly genotyped as homozygotes, dependent on the genotyping depths. In this study, a method correcting this type of genotyping error was demonstrated. The efficiency of this correction method and its effect on genomic prediction were assessed using simulated data of livestock populations.
Chip array (Chip) and four depths of GBS data was simulated. After quality control (call rate ≥ 0.8 and MAF ≥ 0.01), the remaining number of Chip and GBS SNPs were both approximately 7,000, averaged over 10 replicates. GBS genotypes were corrected with the proposed method. The reliability of genomic prediction was calculated using GBS, corrected GBS (GBSc), true genotypes for the GBS loci (GBSr) and Chip data. The results showed that GBSc had higher rates of correct genotype calls and higher correlations with true genotypes than GBS. For genomic prediction, using Chip data resulted in the highest reliability. As the depth increased to 10, the prediction reliabilities using GBS and GBSc data approached those using true GBS data. The reliabilities of genomic prediction using GBSc data were 0.604, 0.672, 0.684 and 0.704 after genomic correction, with the improved values of 0.013, 0.009, 0.006 and 0.001 at depth = 2, 4, 5 and 10, respectively.
The current study showed that a correction method for GBS data increased the genotype accuracies and, consequently, improved genomic predictions. These results suggest that a correction of GBS genotype is necessary, especially for the GBS data with low depths.
测序基因分型(GBS)是一种可靠的标记基因分型方法。许多因素会影响基因分型质量。其中一个因素是杂合基因型可能会根据基因分型深度被错误地基因分型为纯合子。在本研究中,展示了一种纠正此类基因分型错误的方法。使用家畜群体的模拟数据评估了这种校正方法的效率及其对基因组预测的影响。
模拟了芯片阵列(Chip)和四种深度的GBS数据。经过质量控制(检出率≥0.8且最小等位基因频率≥0.01)后,Chip和GBS单核苷酸多态性(SNP)的剩余数量在10次重复中平均均约为7000个。使用所提出的方法对GBS基因型进行了校正。使用GBS、校正后的GBS(GBSc)、GBS位点的真实基因型(GBSr)和Chip数据计算了基因组预测的可靠性。结果表明,GBSc比GBS具有更高的正确基因型检出率以及与真实基因型更高的相关性。对于基因组预测,使用Chip数据得到的可靠性最高。随着深度增加到10,使用GBS和GBSc数据的预测可靠性接近使用真实GBS数据的预测可靠性。基因组校正后,使用GBSc数据的基因组预测可靠性分别为0.604、0.672、0.684和0.704,在深度为2、4、5和10时分别提高了0.013、0.009、0.006和0.001。
当前研究表明,一种GBS数据校正方法提高了基因型准确性,从而改善了基因组预测。这些结果表明,校正GBS基因型是必要的,特别是对于深度较低的GBS数据。