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How to copy number in the contract

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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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What is an example of a copy number variation?

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.

What are copy number variants in human genome?

Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.

What is the role of copy number variation?

Copy number variation (CNV) has recently been identified as a major cause of structural variation in the genome, involving both duplications and deletions of sequences that typically range in length from 1,000 base pairs to 5 megabases, the cytogenetic level of resolution.

What is an example of a copy number variant?

One of the most well-known examples of a disease-causing CNV is Huntington disease, which is caused by a repeating sequence of three base pairs (known as a trinucleotide repeat) at the end of the coding region of the HTT gene.

How are copy number variants detected?

NGS-Based Copy Number Analysis By providing a base-by-base view of the genome, NGS detects small or novel copy number variants that arrays often miss. NGS can also map the exact location of a CNV. The high resolution of sequencing complements the high throughput of arrays, enabling a comprehensive view of the genome.

How is copy number determined?

To determine copy number, a relative quantitation analysis is performed between the unknown sample and a calibrator sample (one in which the copy number of the target gene is known).

What is meant by copy number?

: a numeral placed on a book to distinguish it from other copies of the same title.

What is a variant copy?

A variant copy is a special form of a definition copy. It creates a new, unique object. with the same attribute values as the source object.

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Copy number in the contract