A next-generation Integrative Genomics Viewer for biomedical and cancer research.

描述(由申请人提供)：在数据采集新技术的推动下，包含大量样本的综合基因组研究有望彻底改变我们研究癌症和其他疾病的方式，并为新的治疗方案开辟道路。它们需要高通量生成和分析多种类型的基因组数据。为了应对这一挑战，并与最终用户积极合作，我们开发了一个广泛适用的整合基因组学查看器(IGV)。IGV是一种高性能、用户友好的工具，全世界数以千计的研究人员使用它来交互探索大型、集成的基因组数据集。该项目的目标是开发下一代免疫球蛋白，用于从目前和未来生物医学研究人员面临的爆炸性基因组数据中提取生物学知识。具体地说，我们计划将IGV提升到一个新的水平，增加分析驱动的导航、新的互补性非基因组视图、来自多个研究的大量样本的多层次表示以及丰富的协作环境。目的1.通过智能、分析驱动的导航与新的功能、结构和多层次视图相结合，使用IGV直观地探索大规模、多研究数据集。目的2.提供对基因组数据集的观点进行注释和分享见解的能力，以提高通过IGV进行研究合作的速度和简便性。目标3.为IGV软件和用户提供开发人员外联和持续维护和支持。我们在软件工程方面拥有丰富的经验，包括开发和分发世界各地数万名科学家使用的软件。我们将继续我们以用户为导向的开发方法，与许多大型基因组学项目密切合作，如癌症基因组图谱、国际癌症联盟、1000基因组和ENCODE，以及许多单一研究人员的研究。IGV目前的成功、灵活的架构以及我们支持外部开发的计划，使我们能够很好地实现我们的目标，进一步转变数据可视化，并支持和加快生物医学发现的步伐。 公共卫生相关性：我们建议开发下一代一体化基因组学查看器(IGV)，以通过基因组数据的交互和协作可视化和探索来支持生物医学研究。鉴于当今研究产生的海量数据，可视化往往是洞察疾病的基因组基础和机制的关键因素。这些见解将有助于为进一步研究开发假说，并为新的治疗靶点指明方向。

DESCRIPTION (provided by applicant): Driven by new technologies for data acquisition, integrative genomic studies comprising large numbers of samples are poised to revolutionize the way we approach the study of cancer and other diseases and chart the way to novel treatment regimens. They require the high-throughput generation and analysis of multiple types of genomic data. To address this challenge, and in active collaboration with end users, we developed a broadly applicable Integrative Genomics Viewer (IGV). IGV is a high-performance, user-friendly tool used by thousands of investigators world-wide for the interactive exploration of large, integrated genomic datasets. The goal of this project is to develop the next-generation of the IGV for extracting biological knowledge from the explosion of genomic data facing biomedical researchers both today and in the future. Specifically, we plan to take IGV to the next level with the addition of analysis-driven navigation, new complementary non-genomic views, multi-level representations of large numbers of samples from multiple studies, and a rich collaboration environment. Aim 1. To enable intuitive exploration of large-scale, multi-study datasets with IGV through intelligent, analysis-driven navigation combined with new functional, structural, and multi-level views. Aim 2. To provide the capability to annotate views and share insights on genomic datasets to enhance the speed and ease of research collaborations via IGV. Aim 3. To provide developer outreach and continued maintenance and support of the IGV software and users. We have extensive experience in software engineering, including the development and distribution of software used by tens of thousands of scientists world-wide. We will continue our user-driven development approach working closely with many large genomics projects like The Cancer Genome Atlas, the International Cancer Consortium, the 1000 Genomes, and ENCODE, as well as numerous single-investigator studies. IGV's current success, flexible architecture, and our plan to support external development make us well poised to accomplish our aims to further transform data visualization and enable and accelerate the pace of biomedical discovery. PUBLIC HEALTH RELEVANCE: We propose to develop the next-generation of the Integrative Genomics Viewer (IGV) to support biomedical research through the interactive and collaborative visualization and exploration of genomic data. Given the enormous amount of data generated by studies today, visualization is often a key element in gaining insight into the genomic basis and mechanisms of disease. These insights will help to develop hypotheses for further study and point the way to new therapeutic targets.