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 and ...

A new study reveals that -- contrary to decades of evolutionary thought -- chromosome regions that are prone to breakage when new species are formed are a rich source of genetic variation. A new study ...

Approximately one in every 500 to 650 baby boys is born with an extra X chromosome, a variation in their genetic code that until a few years ago was thought to result in infertility in all cases.

Wednesday, April 2, 2008 –The Y chromosome retains a remarkable record of human ancestry, since it is passed directly from father to son. In an article published online today in Genome Research ...

Genetic variation describes the genotypic and phenotypic differences between individuals in a population, and between populations. This variation arises through genetic mutation and is important as it ...

There are three key aspects to genetic disease associations: comprehensive variant discovery, accurate allele-frequency determination, and an understanding of the pattern of normal variation and its ...