Copy-number variations add a new layer of complexity in the human genome

Hegele, Robert A.
February 2007
CMAJ: Canadian Medical Association Journal;2/13/2007, Vol. 176 Issue 4, p441
Academic Journal
The article reports on the role of copy-number variation (CNV) in the complexity of human genome. The importance of CNVs to human genetic disorders became evident when a search of the map of single gene disorders showed that almost 300 proven disease-causing genes overlapped with CNVs. Large proportion of CNVs occur in gene deserts outside of regulatory or coding regions. It is said that more research is required to fully understand the potential applications of human genomic CNVs.


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