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评估替代基因分型策略,以最小成本实现最大的推测准确性。

Assessment of alternative genotyping strategies to maximize imputation accuracy at minimal cost.

机构信息

Animal Science Department, North Carolina State University, Campus, Box 7621, Raleigh, NC 27695, USA.

出版信息

Genet Sel Evol. 2012 Jul 31;44(1):25. doi: 10.1186/1297-9686-44-25.

Abstract

BACKGROUND

Commercial breeding programs seek to maximise the rate of genetic gain while minimizing the costs of attaining that gain. Genomic information offers great potential to increase rates of genetic gain but it is expensive to generate. Low-cost genotyping strategies combined with genotype imputation offer dramatically reduced costs. However, both the costs and accuracy of imputation of these strategies are highly sensitive to several factors. The objective of this paper was to explore the cost and imputation accuracy of several alternative genotyping strategies in pedigreed populations.

METHODS

Pedigree and genotype data from a commercial pig population were used. Several alternative genotyping strategies were explored. The strategies differed in the density of genotypes used for the ancestors and the individuals to be imputed. Parents, grandparents, and other relatives that were not descendants, were genotyped at high-density, low-density, or extremely low-density, and associated costs and imputation accuracies were evaluated.

RESULTS

Imputation accuracy and cost were influenced by the alternative genotyping strategies. Given the mating ratios and the numbers of offspring produced by males and females, an optimized low-cost genotyping strategy for a commercial pig population could involve genotyping male parents at high-density, female parents at low-density (e.g. 3000 SNP), and selection candidates at very low-density (384 SNP).

CONCLUSIONS

Among the selection candidates, 95.5% and 93.5% of the genotype variation contained in the high-density SNP panels were recovered using a genotyping strategy that costs respectively, $24.74 and $20.58 per candidate.

摘要

背景

商业育种计划旨在最大限度地提高遗传增益率,同时将获得该增益的成本降至最低。基因组信息具有极大的提高遗传增益率的潜力,但成本很高。低成本的基因分型策略与基因型推断相结合,可以大大降低成本。然而,这些策略的成本和推断的准确性都高度敏感于几个因素。本文的目的是探讨在有系谱的群体中几种替代基因分型策略的成本和推断准确性。

方法

使用商业猪群的系谱和基因型数据。探讨了几种替代的基因分型策略。这些策略在用于祖先和要推断的个体的基因型密度上有所不同。父母、祖父母和其他非后代的亲属以高密度、低密度或极低密度进行基因分型,并评估相关成本和推断准确性。

结果

推断准确性和成本受到替代基因分型策略的影响。考虑到交配比例以及雄性和雌性所产后代的数量,商业猪群的优化低成本基因分型策略可能涉及高密度基因分型雄性父母、低密度基因分型雌性父母(例如 3000 SNP),以及极低密度基因分型(384 SNP)的选择候选者。

结论

在选择的候选者中,使用成本分别为每个候选者 24.74 美元和 20.58 美元的基因分型策略,分别可以恢复包含在高密度 SNP 面板中的基因型变异的 95.5%和 93.5%。

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