基因
三核苷酸重复扩增
数据库
遗传学
生物
疾病
脊髓小脑共济失调
计算生物学
医学
计算机科学
等位基因
病理
作者
Qingqing Shi,Min Dai,Yingke Ma,Jun Liu,Xiuying Liu,Xiu‐Jie Wang
标识
DOI:10.1093/gpbjnl/qzae068
摘要
Abstract 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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