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

开发 JBrowse 基因组浏览器以可视化结构变异和癌症基因组数据

• 批准号: 9751259
• 负责人: Ian H Holmes
• 金额: $ 66.52万
• 依托单位: UNIVERSITY OF CALIFORNIA BERKELEY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-08-01 至 2021-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9751259
• 关键词: Animal Model; Area; Back; Chromosomes; Client; Communities; Computer software; DNA; DNA sequencing; Data; Data Set; Databases; Education and Outreach; Educational workshop; Funding; Galaxy; Gene Fusion; Genes; Genetic Transcription; Genome; Genomic Data Commons; Human; Human Genome; Image; Imagery; Individual; Informatics; International; Internet; Intuition; Language; Malignant Neoplasms; Mutation; Online Systems; Organism; Population; Research Personnel; Resources; Running; Scientist; Side; Slice; Source; Structure; Synteny; System; Techniques; Technology; Tissues; Training; Transcriptional Regulation; Validation; Variant; Visualization software; base; cancer genome; cancer genomics; carcinogenesis; data portal; functional genomics; genome analysis; genome annotation; genome browser; genomic data; genomic tools; human reference genome; indexing; informatics tool; insertion/deletion mutation; insight; interest; navigation aid; outreach; prototype; reference genome; tool; transcriptome sequencing; tumor; whole genome

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.

癌症始于基因组的突变，其中可能包括替代，indels， 重复，基因融合和基因组重排。这些突变标志 在组织之间以及在单个肿瘤之间通常之间的变化很大。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的变化及其对基因转录和调节的影响。更大 洞察，这些数据应通过基因注释来增强，这是由功能的结果 基因组学项目，例如编码和人群级数据。 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。但是，基因组浏览器通常不适合可视化 大规模结构变化：为此，循环可视化工具（例如Circos）是 经常使用，但是这些工具不是很互动（或基于Web）。另外，很少 基因组浏览器允许在应用程序本身中进行分析。 Jbrowse是使用JavaScript和Dynamic Web构建的最受欢迎的基因组浏览器 技术。最初是针对模型生物基因组项目的，它是基于网络的 浏览器主要由此类项目使用，但是它的单一最大用户现在是 总部位于英国的癌症基因组项目。我们开发了交互式的原型 Jbrowse的圆形视图，这是一种数据加载管道，以导入人类基因组注释， 从浏览器内部运行交互式分析的框架。我们计划扩展 这些原型用于一个成熟的系统，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项目的系统，国际癌症 基因组联盟和基因组数据共享。