Copy number in the deal

Aug 6th, 2022
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How to copy number in the deal

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Genotyping single nucleotide polymorphisms, or SNPs, using TaqMan Assays has been very well established. But have you heard about copy number variations? Copy number variation (CNV) is a type of structural variation that occurs when a DNA segment of 1 kb to several megabases in length is present in variable copy numbers compared to a reference genome. These CNVs can influence gene expression and can be associated with specific phenotypes and diseases. This variation covers approximately 12% of the human genome and includes deletions and duplications. TaqMan Copy Number assays offer a targeted approach combining high accuracy, specificity, ease of use and sample throughput, to validate copy number changes or screen large sample sets. So how does this all work? Lets take a look at our lab book TaqMan Copy Number assays are a duplex experiment using a FAM labeled target assay and a VIC labeled reference assay in the same well to quantify small fold changes. The reference assay targets a

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Copy number variation (CNV) is a general term used to describe a molecular phenomenon in which sequences of the genome are repeated, and the number of repeats varies between individuals of the same species.
Copy number variation, CNV. Changes in the number of copies of small sections of our genomes can have big consequences. One interesting example is a gene called amylase. This gene is important for digesting starchy foods like potatoes or grains.
: a numeral placed on a book to distinguish it from other copies of the same title.
Copy number variations (CNVs) currently are most often understood as submicroscopic gains or losses of chromosomal material, either connected with a disease or just one of the many possible genetic variants in man.
CNVs can result from structural variations within the genome including deletions, duplications, insertions or unbalanced translocations and inversions, which can lead to either a loss or gain of genomic segments.
The major difference between SVs and CNVs is that SVs always involve breakage and rejoining of DNA fragments. Hence, events like whole chromosomal gains and losses are not considered as SVs.
CNVs can also encompass the repeating of whole genes within a genome. One example is the CYP2D6 gene, which codes for the cytochrome P450 in humans. P450 is an enzyme important in breaking down substances not produced by the body, including medications.
CNV of genomic segments are commonly found in the genomes of humans [15] and model organisms such as the mouse, the rat, or the Drosophila melanogaster fly [16]. In humans, more than 2.3 million different CNVs mapping to approximately 200,000 genomic regions have been identified so far [17].

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