Background

Neurodegenerative disorders such as hereditary ataxia often manifest overlapping symptoms and are likely to be misdiagnosed based on clinical phenotypes. To identify the genes associated with such disorders for diagnostic purposes, geneticists often use high throughput technologies which generate an enormous amount of data on variants whose relevance can be unclear. Besides, analysis and interpretation of high throughput data require gleaning of several web-based resources which can be laborious and time-consuming. To overcome these, we have created a Database for Inherited Ataxia (DINAX), a repository of gene variants from publicly available information.

Methods

DINAX is implemented as a MySQL relational database using the PHP scripting language. Web interfaces were developed using HTML, CSS, and JavaScript. Variant and phenotype information was collected and manually curated from published literature and primary databases such as OMIM and ClinVar. These were further analyzed to decipher expression and pathway analysis.

Results

DINAX is an inventory of 7166 genomic variants (single nucleotide polymorphisms, deletions, insertions, and translocations) reported till date among the 185 genes associated with different subtypes of inherited ataxia. DINAX implements a dual search methodology for genes and phenotypes linking to ataxia associated genes, variants, and their source. Pathway analysis confirmed their association with ataxia.

Conclusion

The database is created to provide a single web source for obtaining information about ataxia related genes. Besides, the database facilitates easy identification of known and reported variants as well as the novel or unreported variants.

DINAX is freely available at http://slsdb.manipal.edu/dinax.

中文翻译：

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DINAX –遗传性共济失调的综合数据库

背景

诸如遗传性共济失调之类的神经退行性疾病通常表现出重叠的症状，并可能根据临床表型被误诊。为了鉴定与此类疾病相关的基因以进行诊断，遗传学家经常使用高通量技术，该技术会产生大量有关变异性尚不清楚的数据。此外，对高吞吐量数据的分析和解释还需要收集多个基于Web的资源，这可能很费力且耗时。为了克服这些问题，我们创建了遗传共济失调数据库（DINAX），该数据库是来自公开可用信息的基因变体存储库。

方法

DINAX使用PHP脚本语言实现为MySQL关系数据库。Web界面是使用HTML，CSS和JavaScript开发的。收集变体和表型信息，并从出版的文献和主要数据库（例如OMIM和ClinVar）中手动进行整理。这些被进一步分析以破译表达和途径分析。

结果

DINAX列出了迄今报告的7166个基因组变体（单核苷酸多态性，缺失，插入和易位）的清单，这些变体是与遗传共济失调的不同亚型相关的185个基因中的。DINAX对与共济失调相关的基因，变体及其来源链接的基因和表型实施双重搜索方法。路径分析证实了它们与共济失调的关联。

结论

创建该数据库是为了提供单个Web资源，以获取有关共济失调相关基因的信息。此外，该数据库有助于容易地识别已知和报告的变体以及新颖或未报告的变体。

DINAX可从http://slsdb.manipal.edu/dinax免费获得。