TRbase: a database relating tandem repeats to disease genes for the human genome
TRbase: a database relating tandem repeats to disease genes for the human genome
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DOI：
10.1093/bioinformatics/bti059
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发表时间：
2005-03-15
期刊：
影响因子：
5.8
通讯作者：
Aves, SJ
中科院分区：
文献类型：
--
作者：
Boby, T;Patch, AM;Aves, SJ
动机：串联重复与疾病基因相关，在进化中发挥重要作用，并且对基因组组织和功能很重要。尽管对短的完美重复模式进行了大量研究，但对不完美重复的关注较少。因此，迫切需要一个串联重复数据库，该数据库提供有关人类基因组中完美和不完美串联重复的可靠且最新的信息，并将这些信息与疾病基因相关联。结果：本文提出了一个可通过网络访问的关系串联重复数据库，该数据库将串联重复与人类基因组的基因位置和疾病基因相关联。与其他可用数据库相比，该数据库可识别 1-2000 bp 单位长度的完美和不完美重复。通过分析这些重复序列在染色体和基因组位置以及蛋白质编码和非编码区域之间的分布和频率，说明了该数据库的实用性。证明了该数据库可用于识别与先前未表征的串联重复相关的疾病。
Motivation: Tandem repeats are associated with disease genes, play an important role in evolution and are important in genomic organization and function. Although much research has been done on short perfect patterns of repeats, there has been less focus on imperfect repeats. Thus, there is an acute need for a tandem repeats database that provides reliable and up to date information on both perfect and imperfect tandem repeats in the human genome and relates these to disease genes.Results: This paper presents a web-accessible relational tandem repeats database that relates tandem repeats to gene locations and disease genes of the human genome. In contrast to other available databases, this database identifies both perfect and imperfect repeats of 1-2000 bp unit lengths. The utility of this database has been illustrated by analysing these repeats for their distribution and frequencies across chromosomes and genomic locations and between protein-coding and non-coding regions. The applicability of this database to identify diseases associated with previously uncharacterized tandem repeats is demonstrated.