Linking chromosome abnormality and copy number variation.
Linking chromosome abnormality and copy number variation.
复制标题
将染色体异常与拷贝数变异联系起来。
DOI：
10.1002/ajmg.a.33849
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Hale,DanielE
中科院分区：
文献类型：
--
作者：
Cody,JannineD;Hale,DanielE
Nine out of 10 people has a chromosome copy number variation (CNV) of >1,000 bp of DNA. In some cases they are inconsequential, in other cases the variations cause disease or disability, and in most cases the relevance has not been elucidated. Several studies describe CNVs as “normal” biological variants while other studies suggest that CNVs may be associated with developmental disability. A concerted effort is needed to classify genes according to their dosage sensitivity, or to their lack of sensitivity. Over time, this effort will lead to the establishment of principles that permit the prediction of the consequence of any one genomic copy number change. © 2011 Wiley‐Liss, Inc.
