DRED:与重复扩增疾病相关的基因综合数据库。

Qingqing Shi, Min Dai, Yingke Ma, Jun Liu, Xiuying Liu, Xiu-Jie Wang
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引用次数: 0

摘要

基因中串联重复序列的扩增往往会导致严重的神经肌肉疾病,如脆性 X 综合征、亨廷顿氏病和脊髓小脑共济失调。然而,与重复扩增疾病相关的基因信息散见于各种文献中,也缺乏对可能通过重复扩增致病的潜在基因的系统预测。在此,我们建立了重复扩增疾病相关基因数据库(DRED),这是一个人工编辑的数据库,涵盖了PubMed和OMIM中报道的所有已知的61个与重复扩增疾病相关的基因,以及每个基因的详细重复信息。DRED 还包括 516 个可能通过重复扩增致病的基因,这些基因是根据其重复组成、遗传变异、基因组特征和疾病相关性预测出来的。DRED 中提供了有关重复扩展疾病及其相应基因/重复序列的各类信息,以及与 NCBI 和 ClinVar 等外部资源的链接。DRED 提供友好的用户界面和全面的功能,可作为基础研究和重复扩增疾病相关医疗诊断的中央数据资源。DRED 可在 http://omicslab.genetics.ac.cn/dred 免费访问,并经常更新,以纳入新报道的与重复扩增疾病相关的基因。
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DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.

Expansion of tandem repeats in genes often causes severe neuromuscular diseases, such as fragile X syndrome, Huntington's disease, and spinocerebellar ataxia. However, information on genes associated with repeat expansion diseases is scattered throughout the literature, systematic prediction of potential genes that may cause diseases via repeat expansion is also lacking. Here, we develop DRED, a Database of genes related to Repeat Expansion Diseases, as a manually-curated database that covers all known 61 genes related to repeat expansion diseases reported in PubMed and OMIM, along with detailed repeat information for each gene. DRED also includes 516 genes with the potential to cause diseases via repeat expansion, which were predicted based on their repeat composition, genetic variations, genomic features, and disease associations. Various types of information on repeat expansion diseases and their corresponding genes/repeats are presented in DRED, together with links to external resources, such as NCBI and ClinVar. DRED provides user-friendly interfaces with comprehensive functions, and can serve as a central data resource for basic research and repeat expansion disease-related medical diagnosis. DRED is freely accessible at http://omicslab.genetics.ac.cn/dred, and is frequently updated to include newly reported genes related to repeat expansion diseases.

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