Developing the JBrowse Genome Browser to Visualize Structural Variants and Cancer Genomics Data

癌症始于基因组的突变，这些突变可以包括取代、插入缺失， 复制、基因融合和基因组重排。这些突变特征 在组织之间，并且通常在个体肿瘤之间变化很大。要理解这一点 突变景观，癌症研究人员需要可视化结构的工具， 癌症DNA的变异及其对基因转录和调节的影响。加强 洞察力，这些数据应该用基因注释来增强，功能性结果 基因组学项目，如ENCODE，和人口水平的数据。 可视化人类基因注释的经典工具是基于网络的基因组 浏览器.然而，基因组浏览器通常不适合可视化 大规模结构变化：为此，圆形可视化工具（如Circos） 经常使用，但这些工具不是很互动（或基于网络）。此外，少数 基因组浏览器允许在应用程序本身内执行分析。 JBrowse是使用JavaScript和动态Web构建的最流行的基因组浏览器 技术.最初是针对模式生物基因组计划，它是基于网络的 浏览器主要用于此类项目，但其最大的单一用户现在是 英国癌症基因组计划。我们已经开发了一个互动的原型， JBrowse的循环视图，导入人类基因组注释的数据加载管道， 一个用于在浏览器中运行交互式分析的框架。我们计划扩大 这些原型到一个完全成熟的系统，用于可视化结构变体和其他 癌症基因组的突变，并对这些数据进行分析。我们将整合 该软件与癌症基因组计划，国际癌症 Genome Consortium和Genomic Data Commons。

Cancer begins with mutations of the genome that can include substitutions, indels, duplications, gene fusions, and genome rearrangements. These mutational signatures vary widely between tissues and, often, between individual tumors. To understand this mutational landscape, cancer researchers need tools for visualizing the structural variation in cancer DNA, and its impact on gene transcription and regulation. For greater insight, these data should be augmented with gene annotations, results from functional genomics project like ENCODE, and population-level data. The classic tool for visualizing human gene annotations is the web-based genome browser. However, genome browsers are not generally well-suited to visualizing large-scale structural variation: for that, circular visualization tools (such as Circos) are often used, but those tools are not very interactive (or web-based). Additionally, few genome browsers allow analysis to be performed within the application itself. JBrowse is the most popular genome browser built using JavaScript and dynamic web technology. Originally aimed at model organism genome projects, it is the web-based browser predominantly used by such projects, and yet its single largest user is now the UK-based Cancer Genome Project. We have developed prototypes of an interactive circular view for JBrowse, a data loading pipeline to import human genome annotations, a framework for running interactive analyses from within the browser. We plan to extend these prototypes to a fully-fledged system for visualizing structural variants and other mutations in cancer genomes, and running analyses on those data. We will integrate this software with the systems of the Cancer Genome Project, the International Cancer Genome Consortium, and the Genomic Data Commons.