Rodriguez-Revenga Laia, Mila Montserrat, Rosenberg Carla, Lamb Allen, Lee Charles
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115 , USA.
Genet Med. 2007 Sep;9(9):600-6. doi: 10.1097/gim.0b013e318149e1e3.
Over the past few years, the application of whole-genome scanning array technologies has catalyzed the appreciation of a new form of submicroscopic genomic imbalances, referred to as copy number variants. Copy number variants contribute substantially to genetic diversity and result from gains and losses of genomic regions that are 1000 base pairs in size or larger, sometimes encompassing millions of bases of contiguous DNA sequences. As genome-wide scanning techniques become more widely used in diagnostic laboratories, a major challenge is how to accurately interpret which submicroscopic genomic imbalances are pathogenic in nature and which are benign. Herein, we review the literature from the past 3 years on this new source of genomic variability and comment on factors that should be considered when trying to differentiate between a pathogenic and a benign copy number variant.
在过去几年中，全基因组扫描阵列技术的应用促使人们认识到一种新的亚微观基因组失衡形式，即拷贝数变异。拷贝数变异对遗传多样性有重大贡献，它源于大小为1000个碱基对或更大的基因组区域的增减，有时包含数百万个连续DNA序列碱基。随着全基因组扫描技术在诊断实验室中得到更广泛应用，一个主要挑战是如何准确解读哪些亚微观基因组失衡具有致病性，哪些是良性的。在此，我们回顾过去3年关于这种新的基因组变异来源的文献，并对在试图区分致病性和良性拷贝数变异时应考虑的因素进行评论。
