Monday, December 01, 2008

Widespread copy number variation affecting phenotypes?   posted by p-ter @ 12/01/2008 07:51:00 PM

A report in Science from the annual meeting of the American Society for Human Genetics focuses on copy number variation. Some interesting observations:
Don Conrad and his colleagues at the Sanger Institute have their eyes on smaller common CNVs, as little as 500 base pairs in length. Checking about every 50 base pairs across parts of the genomes of people of African and European ancestry, they uncovered more than 10,000 CNVs--suggesting that other efforts, which have identified about 1500 common ones, are missing most CNVs. Although "there haven't been many" CNVs linked to disease yet, Conrad said in his talk, "there might be quite a few out there." Indeed, he noted that 129 of the 419 genetic-association regions pinpointed in genome-wide association studies hunting for disease DNA contain a common CNV.