This article is from the In-Depth Report Personalized Medicine in the Genomic Era

Genetic Copy Variations and Disease

A new sense for how variable numbers of genes cause disease

As researchers hunt for more links between known CNVs and disease, Scherer and Hurles are scouting out new variants to add to the mix. Their 2006 map identified CNVs only down to 20,000 base pairs; now they are finishing a revised map that includes variants as short as 500 base pairs. The analysis suggests that about 1,000 copy number variations exist in each person, spanning at least 1 percent of the genome.

“We’ve come really far and really fast,” Scherer says. But “over the next year, we’re going to be finding more small CNVs and more common CNVs associated with disease—2009 is going to be a watershed year.”

Note: This article was originally published with the title, "Too Little, Too Much".

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