Lewis Myles J, Wang Susan
Centre for Experimental Medicine & Rheumatology, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
Bioinform Adv. 2025 Jan 16;5(1):vbaf006. doi: 10.1093/bioadv/vbaf006. eCollection 2025.
Locuszoomr is an R package for visualizing and creating publication-ready regional gene locus plots similar to those produced by the original web interface 'LocusZoom', but running locally in R. Genetic or genomic data with gene annotation tracks are plotted via R base graphics or 'ggplot2', allowing flexibility and easy customization. Modular plotting functions enable layering of multiple GWAS plots such as for PheWAS, comparing GWAS with eQTL signals, and aligning multiple locus plots on the same page. Interactive plots can be visualized using 'plotly' enabling quick identification of data points for labelling. The 'LDlink' API (https://ldlink.nih.gov/) can be programmatically queried to obtain linkage disequilibrium (LD) data from the 1000 Genomes Project which is overlaid on plots. The package allows users to query Ensembl databases from Bioconductor or AnnotationHub for genomic information, so it can be used to show gene track information for any species available in Ensembl. Helper functions enable recombination rate data from UCSC to be overlaid on plots. The package has a detailed vignette and includes embedded example GWAS data to allow users to try out different features. Locuszoomr is also fast: identifying 50 peaks in a GWAS of around 8 million SNPs takes around 0.6 s. Exporting 50 locus plots with 1 Mb window with recombination rate takes around 30 son Intel ninth gen CPU or 14 son Apple ARM M3.
The R package locuszoomr is open-source and available from CRAN: https://cran.r-project.org/package=locuszoomr and GitHub: https://github.com/myles-lewis/locuszoomr.
Locuszoomr是一个R包,用于可视化和创建可用于发表的区域基因座图,类似于原始网络界面“LocusZoom”生成的图,但在R中本地运行。带有基因注释轨迹的遗传或基因组数据通过R基础图形或“ggplot2”进行绘制,具有灵活性且易于定制。模块化绘图函数能够对多个全基因组关联研究(GWAS)图进行分层,例如用于表型组全基因组关联研究(PheWAS)、将GWAS与表达数量性状基因座(eQTL)信号进行比较,以及在同一页面上对齐多个基因座图。可以使用“plotly”可视化交互式图,从而快速识别用于标记的数据点。可以通过编程方式查询“LDlink”应用程序编程接口(API,https://ldlink.nih.gov/),以从千人基因组计划获取连锁不平衡(LD)数据,并将其叠加在图上。该包允许用户从Bioconductor或AnnotationHub查询Ensembl数据库以获取基因组信息,因此可用于显示Ensembl中任何可用物种的基因轨迹信息。辅助函数可将来自加州大学圣克鲁兹分校(UCSC)的重组率数据叠加在图上。该包有详细的 vignette,并包含嵌入式示例GWAS数据,以便用户试用不同功能。Locuszoomr速度也很快:在约800万个单核苷酸多态性(SNP)的GWAS中识别50个峰值大约需要0.6秒。在英特尔第九代CPU上导出50个窗口大小为1兆字节(Mb)并带有重组率的基因座图大约需要30秒,在苹果ARM M3上则需要14秒。
R包locuszoomr是开源的,可从综合R存档网络(CRAN)获取:https://cran.r-project.org/package=locuszoomr 以及GitHub:https://github.com/myles-lewis/locuszoomr 。