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频率查找器:一个用于收集单核苷酸多态性(SNP)标记公共等位基因频率的多源网络应用程序。

Frequency Finder: a multi-source web application for collection of public allele frequencies of SNP markers.

作者信息

Nguyen Tu H, Liu Chunyu, Gershon Elliot S, McMahon Francis J

机构信息

Department of Psychiatry, University of Chicago, IL 60616, USA.

出版信息

Bioinformatics. 2004 Feb 12;20(3):439-43. doi: 10.1093/bioinformatics/btg446. Epub 2004 Jan 22.

Abstract

Publicly available single nucleotide polymorphism (SNP) allele frequencies are an important resource for the selection of genetic markers that may be most useful for gene mapping and association studies. Data mining these allele frequencies through disparate public databases and Websites is time consuming and can result in inconsistent findings. We have developed a web-based software tool, Frequency Finder, to acquire SNP allele frequencies from multiple public data sources and return a summarized result to the user. Our software optimizes and automates the search of candidate markers, decreasing the amount of time it would take to extract pertinent data manually. We have included several methods to output the data, including on-screen and as a compressed text file. We show that Frequency Finder accurately retrieves available frequency data from the available sources. Using this tool, we detect significant differences between Asian, African and Caucasian populations in the allele frequency spectra of 246 097 SNPs. While limited to public databases that provide web-based access to allele frequencies, Frequency Finder provides a single, user-friendly interface for retrieving allele frequencies for large batches of SNPs from multiple data sources.

摘要

公开可用的单核苷酸多态性(SNP)等位基因频率是选择对基因定位和关联研究可能最有用的遗传标记的重要资源。通过不同的公共数据库和网站挖掘这些等位基因频率既耗时,又可能导致结果不一致。我们开发了一个基于网络的软件工具“频率查找器”,用于从多个公共数据源获取SNP等位基因频率,并将汇总结果返回给用户。我们的软件优化并自动执行候选标记的搜索,减少了手动提取相关数据所需的时间。我们提供了几种输出数据的方法,包括在屏幕上显示以及作为压缩文本文件输出。我们证明“频率查找器”能够准确地从可用来源检索可用的频率数据。使用这个工具,我们在246097个SNP的等位基因频率谱中检测到亚洲、非洲和高加索人群之间的显著差异。虽然“频率查找器”仅限于提供基于网络的等位基因频率访问的公共数据库,但它为从多个数据源检索大量SNP的等位基因频率提供了一个单一的、用户友好的界面。

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