title: CNVD: text mining-based copy number variation in disease database.
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.
authors: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.
authors: Fujun
authors: F
authors: Qiu
authors: Yan
authors: Y
authors: Xu
authors: Kening
authors: K
authors: Li
authors: Zihui
authors: Z
authors: Li
authors: Yufeng
authors: Y
authors: Liu
authors: Huizi
authors: H
authors: DuanMu
authors: Shanzhen
authors: S
authors: Zhang
authors: Zhenqi
authors: Z
authors: Li
authors: Zhiqiang
authors: Z
authors: Chang
authors: Yuanshuai
authors: Y
authors: Zhou
authors: Rui
authors: R
authors: Zhang
authors: Shujuan
authors: S
authors: Zhang
authors: Chunquan
authors: C
authors: Li
authors: Yan
authors: Y
authors: Zhang
authors: Minzhai
authors: M
authors: Liu
authors: Xia
authors: X
authors: Li
mesh_terms: D056915:DNA Copy Number Variations; D057225:Data Mining; D030561:Databases, Nucleic Acid; D004194:Disease / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D011247:Pregnancy; D012984:Software; D014584:User-Computer Interface