Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data
Autor
Pirosanto, Yamila
Laseca, Nora
Valera, Mercedes
Molina, Antonio
Moreno-Millán, M.
Bugno-Poniewierska, M.
Ross, Pablo
Azor, Pedro
Demyda-Peyrás, S.
Editor
WileyFecha
2021Materia
Chromosomal abnormalitiesCNA
Equines
Infertility
SNP data
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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.