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Extending long-range phasing and haplotype library imputation methods to impute genotypes on sex chromosomes

机译:扩展远程定相和单倍型文库插补方法以估算性染色体上的基因型

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摘要

AlphaImpute is a flexible and accurate genotype imputation tool that was originally designed for the imputation of genotypes on autosomal chromosomes. In some species, sex chromosomes comprise a large portion of the genome. For example, chromosome Z represents approximately 8% of the chicken genome and therefore is likely to be important in determining genetic variation in a population. When breeding programs make selection decisions based on genomic information, chromosomes that are not represented on the genotyping platform will not be subject to selection. Therefore imputation algorithms should be able to impute genotypes for all chromosomes. The objective of this research was to extend AlphaImpute so that it could impute genotypes on sex chromosomes. The accuracy of imputation was assessed using different genotyping strategies in a real commercial chicken population. The correlation between true and imputed genotypes was high in all the scenarios and was 0.96 for the most favourable scenario. Overall, the accuracy of imputation of the sex chromosome was slightly lower than that of autosomes for all scenarios considered.
机译:AlphaImpute是一种灵活而准确的基因型插补工具,最初是为在常染色体上进行基因型插补而设计的。在某些物种中,性染色体占基因组的很大一部分。例如,Z染色体约占鸡基因组的8%,因此在确定种群的遗传变异中可能很重要。当育种程序根据基因组信息做出选择决定时,基因型分型平台上未显示的染色体将不会被选择。因此,插补算法应该能够为所有染色体插补基因型。这项研究的目的是扩展AlphaImpute,以便它可以推断性染色体上的基因型。在实际的商业鸡群中,使用不同的基因分型策略评估了估算的准确性。真实和推定基因型之间的相关性在所有情况下均很高,最有利的情况下为0.96。总体而言,在所有考虑的情况下,性染色体的插补精度均略低于常染色体。

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