数字农科院2.0

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases

文献类型： 外文期刊

作者： Shi, Qingqing;Dai, Min;Ma, Yingke;Liu, Jun;Liu, Xiuying;Wang, Xiu-Jie

作者机构：

关键词： Repeat expansion;Disease;Short tandem repeat;Genetic variation;Trinucleotide repeat

期刊名称： GENOMICS PROTEOMICS & BIOINFORMATICS

ISSN： 1672-0229

年卷期： 2025 年 22 卷 5 期

页码：

收录情况： SCIE（2025版） ; ; CSCD（2025-2026年度） ; ; 科技核心（2024版）

摘要： Expansion of tandem repeats in genes often causes severe 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 the 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 will be frequently updated to include newly reported genes related to repeat expansion diseases.

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