SNPper: retrieval and analysis of human SNPs
SNPper: retrieval and analysis of human SNPs
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DOI：
10.1093/bioinformatics/18.12.1681
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发表时间：
2002-12-01
期刊：
影响因子：
5.8
通讯作者：
Kohane, IS
中科院分区：
文献类型：
--
作者：
Riva, A;Kohane, IS
单核苷酸多态性（SNP）是研究人类基因组的一个越来越重要的工具。SNPs可以作为标记来创建高密度遗传图谱，作为疾病的因果候选者，或重建我们基因组的历史。基于SNP的研究依赖于大量经验证的高频率SNP的可用性，这些SNP在染色体上的位置是精确已知的。虽然大量的SNPs存在于公共databases，研究人员需要的工具，以有效地检索和操纵theme.Results：我们描述了SNPper，一个基于Web的应用程序，自动化的任务，从公共数据库中提取SNPs，分析它们，并导出它们的格式适合于后续使用的实现和使用。我们的应用程序面向候选基因，全基因组和精细定位研究的需求，并提供了几种灵活的方式来呈现和导出数据。该应用程序已公开使用一年多，并收到了积极的用户反馈和高使用水平。
Motivation: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for the study of the human genome. SNPs can be used as markers to create high-density genetic maps, as causal candidates for diseases, or to reconstruct the history of our genome. SNP-based studies rely on the availability of large numbers of validated, high-frequency SNPs whose position on the chromosomes is known with precision. Although large collections of SNPs exist in public databases, researchers need tools to effectively retrieve and manipulate them.Results: We describe the implementation and usage of SNPper, a web-based application to automate the tasks of extracting SNPs from public databases, analyzing them and exporting them in formats suitable for subsequent use. Our application is oriented toward the needs of candidate-gene, whole-genome and fine-mapping studies, and provides several flexible ways to present and export the data. The application has been publicly available for over a year, and has received positive user feedback and high usage levels.