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CNV Genotyping Services

CNV Genotyping Services

Copy number variations (CNVs) are a type of genomic alteration to regions of DNA, resulting in an abnormal copy number of specific regions which cause the physical rearrangement of genes on chromosomes.  CNVs are most commonly caused by inversions, deletions, duplications or translocations and have been associated with many complex genetic diseases, including susceptibility to autoimmune and neuropsychiatric diseases, asthma and cancer.

CNV genotyping arrays can offer a reliable and effective approach for large-scale analysis, to identify genetic variation that contributes to disease and disease phenotypes.

In addition to genotyping arrays, next generation sequencing (NGS) can be used to identify how copy number variation alters gene expression. Targeted RNA-sequencing (RNA-Seq) can capture subtle gene expression changes, measure allele-specific expression, and identify fusion genes which microarrays can sometimes miss.

By combining NGS and CNV genotyping technologies, researchers are able to map the exact location of a CNV and identify the downstream effects of variants throughout the genome, providing a deeper understanding of the molecular mechanisms responsible for disease.


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