Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data

Inglés. Chromosomal abnormalities are a common cause of infertility in horses. However, they aredifficult to detect using automated methods. Here, we propose a simple methodology basedon single nucleotide polymorphism (SNP)-array data that allows us to detect the mainchromosomal abnormalities in horses in a single procedure. As proof of concept, we wereable to detect chromosomal abnormalities in 33 out of 268 individuals, includingmonosomies, chimerisms, and male and female sex-reversions, by analyzing the raw signalintensity produced by an SNP array-based genotyping platform. We also demonstrated thatthe procedure is not affected by the SNP density of the array employed or by the inbreedinglevel of the individuals. Finally, the methodology proposed in this study could be performedin an open bioinformatic environment, thus permitting its integration as a flexible screeningtool in diagnostic laboratories and genomic breeding programs.

Inglés. chromosomal abnormalities, CNA, equines, infertility, SNP data

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