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Genaissance Study Reports 14 Variations per Human Gene

NEW YORK, July 12 - Genaissance Pharmaceuticals announced Thursday that it identified an average of 14 different versions of every gene it examined in a recent study, which will appear in the July 20 issue of Science

The report unveils previously unknown variations in human genes, Genaissance CEO, Gualberto Ruano, said at a press conference on the study. Looking at 82 individuals from 4 different groups of diverse origin, the company identified 3,899 SNPs within 313 genes.

Ruano said that, on average, the company found 14 versions of each gene but that the number of variations identified for each gene range from two to 53. 

If there are 30,000 sites where genes reside on the human genome and an average of 14 versions for each, then the array of genetic elements that complement the genome is in the range of 500,000, Ruano noted.

Genaissance CTO Gerald Vovis added that 95 percent of the variability in the 313 genes that the company identified through its industrialized screening process was novel. 

Vovis said that the company, which is based in New Haven, Conn., has examined 4,000 genes to date and ultimately intends to explore every human gene for variation.

 

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