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. 2016 Mar 15;32(6):949-51.
doi: 10.1093/bioinformatics/btv690. Epub 2015 Nov 20.

LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations

Affiliations

LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations

Tokhir Dadaev et al. Bioinformatics. .

Abstract

: In this article, we present LocusExplorer, a data visualization and exploration tool for genetic association data. LocusExplorer is written in R using the Shiny library, providing access to powerful R-based functions through a simple user interface. LocusExplorer allows users to simultaneously display genetic, statistical and biological data for humans in a single image and allows dynamic zooming and customization of the plot features. Publication quality plots may then be produced in a variety of file formats.

Availability and implementation: LocusExplorer is open source and runs through R and a web browser. It is available at www.oncogenetics.icr.ac.uk/LocusExplorer/ or can be installed locally and the source code accessed from https://github.com/oncogenetics/LocusExplorer

Contact: tokhir.dadaev@icr.ac.uk.

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Figures

Fig. 1.
Fig. 1.
Example LocusExplorer plot for the HNF1B PrCa risk locus at Chr17q12. Two independent PrCa association signals (rs11649743 and rs4430796) had previously been reported at this region. Fine-mapping identified more strongly associated variants to describe both of these known signals (rs718961 and rs11263763, respectively), in addition to a previously unknown third independent association (rs2229295). Variants in LD with the index SNPs are colour coded and provide an indication of the boundaries of each signal. The plot also shows the density of genotyped and imputed SNPs analyzed, the distribution of Histone marks within 7 cell lines and DNase I hypersensitivity sites in 125 cell types from the ENCODE Project, positions of regulatory elements within the LNCaP cell line and genes within the region colour coded by DNA strand. The custom user track option has also been used to display an eQTL associated with downregulation of the HNF1B gene

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