CNVs Can Stop Feeling Left Out

Several studies in Nature Genetics have incorporated scanning for CNVs, and not just SNPs, into genome-wide association studies, says an article in Tech Review. In one, the Broad's David Altshuler found that among a sample of 270 people, most copy number variations are inherited, allowing them to look genome-wide using microarrays for CNVs associated with disease risk. "If we can interrogate both kinds of variation in the same patient in the same experiment, we can get an integrated understanding of how variations come together to influence disease," says Steven McCarroll, a geneticist at the Broad and lead author of the paper.