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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. [1] Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2]
Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such analysis is the detection of chromosomal copy number variation that may cause or may increase risks of various critical disorders.
Array CGH has proven to be a specific, sensitive, fast and high-throughput technique, with considerable advantages compared to other methods used for the analysis of DNA copy number changes making it more amenable to diagnostic applications. Using this method, copy number changes at a level of 5–10 kilobases of DNA sequences can be detected. [15]
Homogeneously staining regions (HSRs) are chromosomal segments with various lengths and uniform staining intensity after G banding.This type of aberration is also known as Copy Number Gains or Amplification.
Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair. [1] It detects copy number changes at the molecular level, and software programs are used for analysis.
Many biotechnology applications utilize mutated plasmids that replicate to high copy number. For example, pBR322 is a medium copy number plasmid (~20 copies/cell) from which several high copy number cloning vectors (>100 copies/cell) have been derived by mutagenesis, such as the well known pUC series. [1] This delivers the convenience of high ...
Example of AFLP data from a capillary electrophoresis instrument. Amplified fragment length polymorphism (AFLP-PCR or AFLP) is a PCR-based tool used in genetics research, DNA fingerprinting, and in the practice of genetic engineering.
Low Copy Number (LCN) is a DNA profiling technique developed by the UK Forensic Science Service (FSS) which has been in use since 1999. [1]In the United Kingdom use of the technique was suspended between 21 December 2007 and 14 January 2008 while the Crown Prosecution Service conducted a review into its use – this suspension has now been lifted.