UMD (Universal Mutation Database):: 2005 update
UMD (Universal Mutation Database):: 2005 update
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DOI：
10.1002/humu.20210
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发表时间：
2005-09-01
期刊：
影响因子：
3.9
通讯作者：
Claustres, M
中科院分区：
文献类型：
--
作者：
Béroud, C;Hamroun, D;Claustres, M
随着人类基因组计划的完成，我们对人类遗传病的看法发生了变化。现在可以在电子计算机上克隆新的致病基因，每年在诊断和研究实验室中发现数千种突变。了解这些突变及其与临床和生物学数据的关联对临床医生、遗传学家和研究人员至关重要。为了收集和分析这些数据，我们开发了一种名为通用突变数据库(UMD(R))的通用软件来创建特定于焦点的数据库。在这里，我们报告这个免费提供的TOOT(www.umd.be)的新版本(2004年9月)，它允许为几乎任何基因创建LSDB，并包括大量新的分析工具。我们实施了新的功能来集成非编码序列、临床数据、图片、单抗和多态标记(SNP)。今天，UMD保留了所有专门设计的工具来在分子水平上分析突变，以及一套新的例程来搜索基因-表型相关性。我们还为罕见的突变创建了特定的工具，如严重缺失和复制，以及深层内含子突变。现在有一大套专门用于内含子突变的工具，包括计算潜在剪接位点的共同值(CV)和搜索外显子剪接增强子(ESE)基序的方法。此外，我们还创建了特定的例程来帮助研究人员设计新的治疗策略，如外显子跳过、氨基糖苷读取、通过终止密码子，或用于基因治疗的单抗选择和表位扫描。
With the completion of the Human Genome Project, our vision of human genetic diseases has changed. The cloning of new disease-causing genes can now be performed in silico, and thousands of mutations are being identified in diagnostic and research laboratories yearly. Knowledge about these mutations and their association with clinical and biological data is essential for clinicians, geneticists, and researchers. To collect and analyze these data, we developed a generic software called Universal Mutation Databases (UMD (R)) to create focusspecific databases. Here we report the new release (September 2004) of this freely available toot (www.umd.be), which allows the creation of LSDBs for virtually any gene and includes a large set of new analysis tools. We have implemented new features to integrate noncoding sequences, clinical data, pictures, monoclonal antibodies, and polymorphic markers (SNPs). Today the UMD retains all specifically designed tools to analyze mutations at the molecular level, as well as new sets of routines to search for genotype-phenotype correlations. We also created specific tools for infrequent mutations such as gross deletions and duplications, and deep intronic mutations. A large set of dedicated tools are now available for intronic mutations, including methods to calculate the consensus values (CVs) of potential splice sites and to search for exonic splicing enhancer (ESE) motifs. In addition, we have created specific routines to help researchers design new therapeutic strategies, such as exon skipping, aminoglycoside read,through of stop codons, or monoclonal antibody selection and epitope scanning for gene therapy.