Communications of the ACM
Researchers Develop 'Hi-Def' Copy Number Variation Decoder
CNVer, a computer algorithm developed by researchers at the University of Toronto, promises to simplify the discovery of the precise number of copies of genes in the human genome. The algorithm analyzes human DNA and detects genetic variants that determine individual traits such as disease susceptibility.
Professor Michael Brudno compares CNVer to a game of "spot the difference," in that glitches are searched for in sub-microscopic pieces of DNA. "Imagine two near identical images—one photograph containing two cars, and the other only one. If you cut those images into snippets and shuffled them [which is what happens during DNA sequencing], it would be difficult to detect which image fragment belonged with the original picture," he says. "We have developed sophisticated methods to scrutinize connecting fragments around, or between, the vehicles, allowing both the number of cars [or copies of a gene] within the photograph and their location to be accurately reconstructed."
The information enables researchers to obtain a high-level view of the genome, while only looking at the individual small pieces, Brudno says.
From University of Toronto
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