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

作　　者：Qingqing Shi Min Dai Yingke Ma Jun Liu Xiuying Liu Xiu-Jie Wang 

机构地区：[1]Key Laboratory of Genetic Network Biology,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing 100101,China [2]University of Chinese Academy of Sciences,Beijing 100049,China [3]National Genomics Data Center,China National Center for Bioinformation,Beiing 100101,China [4]Beiing Institute of Genomics,Chinese Academy of Sciences,Bejing 100101,China [5]National Key Facility for Crop Gene Resources and Genetic Improvement,Institute of Crop Science,Chinese Academy of Agricutural Sciences,Beiing 100081,China [6]Changping Laboratory,Beiing 102206,China

出　　处：《Genomics, Proteomics & Bioinformatics》2024年第5期151-157,共7页基因组蛋白质组与生物信息学报(英文版)

基　　金：supported by the Beijing Natural Science Foundation of China(Grant No.Z200020);the National Key R&D Program of China(Grant No.2019YFA0802203)to XJW.

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.

关 键 词：DISEASE Genetic variation Repeat expansion Short tandem repeat Trinucleotide repeat 

分 类 号：Q811.4[生物学—生物工程]