Genome complexity; another layer (Introduction)

by David Turell , Tuesday, December 11, 2012, 18:39 (4366 days ago) @ David Turell

More complexity:-http://www.genomeweb.com/arrays/copy-machines-
"Such early CNV [copy number variations] work, though, generally presumed that such variants were rare, deleterious events, usually linked to disease. This understanding, Lee says, held until 2004, when a pair of papers — one by Lee and his collaborators in Nature Genetics and another in Science by Cold Spring Harbor Laboratory researcher Michael Wigler and colleagues — appeared a week apart, both demonstrating that CNVs were widespread throughout the human genome and likely a significant source of natural genetic variation.
 
"Prior to 2004, [copy number] gains and losses were thought to be very rare and associated with highly penetrant genomic disorders," Lee says. "It wasn't until 2004 [that] our group and the group of Mike Wigler published papers back to back showing that there are a lot of gains and losses in the human genome in healthy individuals."-And found in genetic diseases