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SNPexp - 一个用于计算和可视化 HapMap 基因型与基因表达水平之间相关性的网络工具。

SNPexp - A web tool for calculating and visualizing correlation between HapMap genotypes and gene expression levels.

机构信息

Norwegian PSC Research Center, Clinic for Specialized Medicine and Surgery, Oslo University Hospital Rikshospitalet, Norway.

出版信息

BMC Bioinformatics. 2010 Dec 17;11:600. doi: 10.1186/1471-2105-11-600.

Abstract

BACKGROUND

Expression levels for 47294 transcripts in lymphoblastoid cell lines from all 270 HapMap phase II individuals, and genotypes (both HapMap phase II and III) of 3.96 million single nucleotide polymorphisms (SNPs) in the same individuals are publicly available. We aimed to generate a user-friendly web based tool for visualization of the correlation between SNP genotypes within a specified genomic region and a gene of interest, which is also well-known as an expression quantitative trait locus (eQTL) analysis.

RESULTS

SNPexp is implemented as a server-side script, and publicly available on this website: http://tinyurl.com/snpexp. Correlation between genotype and transcript expression levels are calculated by performing linear regression and the Wald test as implemented in PLINK and visualized using the UCSC Genome Browser. Validation of SNPexp using previously published eQTLs yielded comparable results.

CONCLUSIONS

SNPexp provides a convenient and platform-independent way to calculate and visualize the correlation between HapMap genotypes within a specified genetic region anywhere in the genome and gene expression levels. This allows for investigation of both cis and trans effects. The web interface and utilization of publicly available and widely used software resources makes it an attractive supplement to more advanced bioinformatic tools. For the advanced user the program can be used on a local computer on custom datasets.

摘要

背景

270 名 HapMap 二期个体的淋巴母细胞系中 47294 个转录本的表达水平,以及同一个体中 396 万个单核苷酸多态性(SNP)的基因型(包括 HapMap 二期和三期)均可公开获取。我们旨在开发一个用户友好的基于网络的工具,用于可视化指定基因组区域内 SNP 基因型与感兴趣基因之间的相关性,这也被称为表达数量性状基因座(eQTL)分析。

结果

SNPexp 作为一个服务器端脚本实现,并在该网站上公开提供:http://tinyurl.com/snpexp。通过在 PLINK 中执行线性回归和 Wald 检验来计算基因型和转录本表达水平之间的相关性,并使用 UCSC 基因组浏览器进行可视化。使用先前发表的 eQTL 对 SNPexp 的验证产生了可比的结果。

结论

SNPexp 提供了一种方便且与平台无关的方法,用于计算和可视化基因组中任何指定遗传区域内的 HapMap 基因型与基因表达水平之间的相关性。这允许研究顺式和反式效应。网络界面和对公共可用且广泛使用的软件资源的利用使其成为更高级生物信息学工具的有吸引力的补充。对于高级用户,该程序可在本地计算机上用于自定义数据集。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81fa/3022629/3b146a7d66b3/1471-2105-11-600-1.jpg

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