| Literature DB >> 22826268 |
Fujun Qiu1, Yan Xu, Kening Li, Zihui Li, Yufeng Liu, Huizi DuanMu, Shanzhen Zhang, Zhenqi Li, Zhiqiang Chang, Yuanshuai Zhou, Rui Zhang, Shujuan Zhang, Chunquan Li, Yan Zhang, Minzhai Liu, Xia Li.
Abstract
Copy number variation (CNV) is a kind of chromosomal structural reorganization that has been detected, in this decade, mainly by high-throughput biological technology. Researchers have found that CNVs are ubiquitous in many species and accumulating evidence indicates that CNVs are closely related with complex diseases. The investigation of chromosomal structural alterations has begun to reveal some important clues to the pathologic causes of diseases and to the disease process. However, many of the published studies have focused on a single disease and, so far, the experimental results have not been systematically collected or organized. Manual text mining from 6301 published papers was used to build the Copy Number Variation in Disease database (CNVD). CNVD contains CNV information for 792 diseases in 22 species from diverse types of experiments, thus, ensuring high confidence and comprehensive representation of the relationship between the CNVs and the diseases. In addition, multiple query modes and visualized results are provided in the CNVD database. With its user-friendly interface and the integrated CNV information for different diseases, CNVD will offer a truly comprehensive platform for disease research based on chromosomal structural variations. The CNVD interface is accessible at http://bioinfo.hrbmu.edu.cn/CNVD.Mesh:
Year: 2012 PMID: 22826268 DOI: 10.1002/humu.22163
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878