Sunday, April 18, 2010

Copy Number Variation - the root of all evil and good?

Human genomes contain repeated segments of DNA through most of the genome. When the number of copies of the repeats vary between different human beings, we have a copy number variation. Few regions of the genomes are popular locations for such variations, these regions which have different number of copies are known as copy number variant regions.

Copy number variable regions(CNVR's) are of particular interest as they can be responsible for diseases and prototypic differences between individuals. Similar to single nucleotide polymorphisms (SNP's) which are disease markers, these regions have been associate with many conditions. These regions have also been associated with resistance from infection by HIV and Malaria.

The importance of these regions becomes apparent as copy number variation maps are being generated and updated into genomic variant databases. This type of data will be useful in understanding the relations between CNVR's and specific characters. Evolutinary impact of these regions could also be anlaysed to get an understanding of how evolution proceeded.

It will require a more clear understanding of the role of CNVR's to really appreciate how much they influence the different characters. May be they are root of all evil and good, but again they might just be a part of the bigger puzzle.

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