Chromosomal abnormalities are a common cause of infertility in horses. However, they are difficult to detect using automated methods. Here, we propose a simple methodology based on single nucleotide polymorphism (SNP)-array data that allows us to detect the main chromosomal abnormalities in horses in a single procedure. As proof of concept, we were able to detect chromosomal abnormalities in 33 out of 268 individuals, including monosomies, chimerisms, and male and female sex-reversions, by analyzing the raw signal intensity produced by an SNP array-based genotyping platform. We also demonstrated that the procedure is not affected by the SNP density of the array employed or by the inbreeding level of the individuals. Finally, the methodology proposed in this study could be performed in an open bioinformatic environment, thus permitting its integration as a flexible screening tool in diagnostic laboratories and genomic breeding programs.

中文翻译：

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使用SNP-array基因分型数据筛选和检测家马的染色体拷贝数改变

染色体异常是马不育的常见原因。但是，使用自动化方法很难检测到它们。在这里，我们提出了一种基于单核苷酸多态性 (SNP) 阵列数据的简单方法，使我们能够在单个程序中检测马的主要染色体异常。作为概念证明，通过分析基于 SNP 阵列的基因分型平台产生的原始信号强度，我们能够检测到 268 个个体中 33 个的染色体异常，包括单体、嵌合体和男性和女性性别逆转。我们还证明了该程序不受所用阵列的 SNP 密度或个体的近亲繁殖水平的影响。最后，本研究中提出的方法可以在开放的生物信息学环境中进行，