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BigTop:用于 GWAS 可视化的三维虚拟现实工具。

BigTop: a three-dimensional virtual reality tool for GWAS visualization.

机构信息

DNAnexus, Inc., Mountain View, CA, USA.

出版信息

BMC Bioinformatics. 2020 Jan 31;21(1):39. doi: 10.1186/s12859-020-3373-5.

Abstract

BACKGROUND

Genome-wide association studies (GWAS) are typically visualized using a two-dimensional Manhattan plot, displaying chromosomal location of SNPs along the x-axis and the negative log-10 of their p-value on the y-axis. This traditional plot provides a broad overview of the results, but offers little opportunity for interaction or expansion of specific regions, and is unable to show additional dimensions of the dataset.

RESULTS

We created BigTop, a visualization framework in virtual reality (VR), designed to render a Manhattan plot in three dimensions, wrapping the graph around the user in a simulated cylindrical room. BigTop uses the z-axis to display minor allele frequency of each SNP, allowing for the identification of allelic variants of genes. BigTop also offers additional interactivity, allowing users to select any individual SNP and receive expanded information, including SNP name, exact values, and gene location, if applicable. BigTop is built in JavaScript using the React and A-Frame frameworks, and can be rendered using commercially available VR headsets or in a two-dimensional web browser such as Google Chrome. Data is read into BigTop in JSON format, and can be provided as either JSON or a tab-separated text file.

CONCLUSIONS

Using additional dimensions and interactivity options offered through VR, we provide a new, interactive, three-dimensional representation of the traditional Manhattan plot for displaying and exploring GWAS data.

摘要

背景

全基因组关联研究(GWAS)通常使用二维曼哈顿图进行可视化,显示 SNP 的染色体位置在 x 轴上,其 p 值的负对数在 y 轴上。这种传统的图谱提供了结果的广泛概述,但几乎没有提供交互或扩展特定区域的机会,并且无法显示数据集的其他维度。

结果

我们创建了 BigTop,这是一个虚拟现实(VR)中的可视化框架,旨在以三维方式呈现曼哈顿图,在模拟的圆柱房间中围绕用户环绕图形。BigTop 使用 z 轴显示每个 SNP 的次要等位基因频率,从而可以识别基因的等位基因变体。BigTop 还提供了其他交互功能,允许用户选择任何单个 SNP 并获得扩展信息,包括 SNP 名称、确切值和基因位置(如果适用)。BigTop 是使用 JavaScript 构建的,使用了 React 和 A-Frame 框架,可以在商业上可用的 VR 头显中呈现,也可以在二维网络浏览器(如 Google Chrome)中呈现。数据以 JSON 格式读入 BigTop,可以以 JSON 或制表符分隔的文本文件的形式提供。

结论

通过使用 VR 提供的额外维度和交互选项,我们为显示和探索 GWAS 数据提供了传统曼哈顿图的新的、交互式的三维表示形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c7ff/6995189/5fa1bd648c18/12859_2020_3373_Fig1_HTML.jpg

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