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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs
1The Journal of the Association of Genetic Technologists.
Objectives:
A recent report described a novel use of CMA for the first time in dogs that uncovered three cases of constitutional aneuploidy among 2,053 purebred and mixed-breed dogs. This advance is very significant because cytogenetic analysis by traditional methods in domestic dogs is technically difficult and may not conclusively identify all the abnormalities. This success with CMA testing anticipates the potential to discover more cases of canine aneuploidies as this technology becomes part of routine clinical genetic testing. As a whole, extended use of CMA is likely to uncover a wider range of chromosomal abnormalities that cause canine diseases, characterize in more detail the canine karyotype (normal and abnormal), and provide thorough cytogenomic data of an animal model useful to study human diseases. Since the platform developed for CMA that was used also allows mutation analysis for canine gene diseases, this additional technical feature permits a cost-effective and comprehensive genetic testing for diagnosis in only one step.
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Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

