Copy number variation (CNV) has recently been identified as a major cause of structural variation in the genome, involving both duplications and deletions of sequences that typically range in ...

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 ...

Thanks to engrained lessons from cytogenetics, researchers largely regarded variations in gene copy a rarity ... 2 Sebat and his team were running two normal DNA controls for a cancer genome study, ...

Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding ocular disorder with an unknown etiology. Lack of targeted effective drugs, inadequate disease prognosis, and high relapse ...