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".

2 Comments

1. 1. Bywonius 08:32 PM 6/6/09

   OK, here's a Question:
   
   From what I've read, it seems the CNVs can be herditary. So what happens with the DNA of parents from dis-similar backgrounds - with presumably quite different CNVs - do the offspring inherit the CNVs or error free genes?
   
   Could this at least partially explain the "hybrid vigour" seen in humans, animals & plants? In particular, the descendents of the immigrants and indigenous peoples in the "New World" countries like the USA, Canada, Brazil & Australia - and many others- arguably exhibit such vigour. Is it a "some do, some don't" matter?
   
   Thanks for publishing a fascinating article.
   
   

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2. 2. springmcgrath 06:25 PM 6/10/09

   are the deletions you mentioned, e.g. IRGM, copy number variations or deletions of all copies (that seems unlikely)?

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