Copy number variations (CNVs) have been linked to dozens of human diseases, but can they also represent the genetic variation that was so essential to our evolution? More recently, both aneuploidy ...

Current research aims to identify the functional mechanisms by which copy number variation cause diseases. Although preliminary findings suggest that the presence of copy number variants might be ...

Increasingly, however, researchers have found that large-scale deletions and duplications are the norm and represent a significant source of human variation.Jonathan Sebat ... for a cancer genome ...