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HGBASE: a database of SNPs and other variations in and around human genes

机译:HGBASE:人类基因及其周围SNP和其他变异的数据库

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摘要

Human genome polymorphism is expected to play a key role in defining the etiologic basis of phenotypic differences between individuals in aspects such as drug responses and common disease predisposition. Relevant functional DNA changes will probably be located in or near to transcribed sequences, and include many single nucleotide polymorphisms. To aid the future analysis of such genome variation, HGBASE (Human Genic Bi-Allelic SEquences) was constructed as a means to gather human gene-linked polymorphisms from all possible public sources, and show these as a non-redundant set of records in a standardized and user-friendly database endowed with text and sequence based search facilities. After 1 year of presence on the WWW, the HGBASE project has compiled data for over 22 000 records, and this number continues to triple every 6–12 months with data harvested or submitted from all major public genome databases and published literature from the previous decade. Extensive annotation enhancement, internal consistency checking and manual review of every record is undertaken to address potential errors and deficiencies sometimes present in the original source data. The fully polished and comprehensive database is made freely available to all at http://hgbase.cgr.ki.se
机译:预期人类基因组多态性在定义个体之间在药物反应和常见疾病易感性等方面的表型差异的病因学基础中将发挥关键作用。相关的功能性DNA变化可能位于转录的序列中或附近,并且包括许多单核苷酸多态性。为帮助将来对此类基因组变异进行分析,我们构建了HGBASE(人类双基因双等位基因序列),该方法可从所有可能的公共来源收集与人类基因相关的多态性,并将其显示为一组非冗余记录。标准化和用户友好的数据库,具有基于文本和序列的搜索功能。在WWW上运行了1年之后,HGBASE项目已经收集了超过22 000条记录的数据,并且该数目每6至12个月持续增加两倍,其收集或提交的数据来自所有主要的公共基因组数据库和过去十年的出版文献。进行了广泛的注释增强,内部一致性检查和每条记录的手动检查,以解决原始源数据中有时存在的潜在错误和不足。完全抛光且全面的数据库可从http://hgbase.cgr.ki.se免费提供给所有人。

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