LocusZoom: regional visualization of genome-wide association scan results.

LocusZoom: regional visualization of genome-wide association scan results.
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DOI:
10.1093/bioinformatics/btq419
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发表时间:
2010-09-15
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Willer CJ
Willer CJ
中科院分区:
其他
文献类型:
--
作者:
Pruim RJ;Welch RP;Sanna S;Teslovich TM;Chines PS;Gliedt TP;Boehnke M;Abecasis GR;Willer CJ

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全基因组关联研究(GWAS)已经揭示了数百个与常见人类遗传疾病和特征相关的基因座。我们已经开发了一个基于Web的绘图工具,提供了快速的可视化显示GWAS的结果在出版准备的格式。LocusZoom直观地显示区域信息,例如与基因组位置相关的关联信号的强度和程度,局部连锁不平衡(LD)和重组模式以及区域中基因的位置。可用性:LocusZoom可以从http://csg.sph.umich.edu/locuszoom的Web界面访问。用户可以使用Web表单生成单个图,或使用批处理模式生成多个图。该软件利用来自HapMap Phase II(CEU,YRI和JPT+CHB)或1000 Genomes(CEU)的LD信息和来自UCSC浏览器的基因信息,并将接受dbSNP或1000 Genomes格式的SNP标识符。单点图生成时间为20秒。源代码和相关数据库可供下载和本地安装,完整的文档可在线获得。联系人:cristen@umich.edu
Summary: Genome-wide association studies (GWAS) have revealed hundreds of loci associated with common human genetic diseases and traits. We have developed a web-based plotting tool that provides fast visual display of GWAS results in a publication-ready format. LocusZoom visually displays regional information such as the strength and extent of the association signal relative to genomic position, local linkage disequilibrium (LD) and recombination patterns and the positions of genes in the region. Availability: LocusZoom can be accessed from a web interface at http://csg.sph.umich.edu/locuszoom. Users may generate a single plot using a web form, or many plots using batch mode. The software utilizes LD information from HapMap Phase II (CEU, YRI and JPT+CHB) or 1000 Genomes (CEU) and gene information from the UCSC browser, and will accept SNP identifiers in dbSNP or 1000 Genomes format. Single plots are generated in ∼20 s. Source code and associated databases are available for download and local installation, and full documentation is available online. Contact: cristen@umich.edu
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