Bioinformatics Resource Core

生物信息学资源核心

• 批准号: 10251979
• 负责人: Katherine Phoenix Liao
• 金额: $ 21.61万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-20 至 2022-09-15
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10251979
• 关键词: Address; Adult; Area; Automobile Driving; Bioinformatics; Biological; Biological Markers; Bone Density; Childhood; Clinical Data; Clinical Investigator; Clinical Research; Collaborations; Communities; Computerized Medical Record; Consult; Custom; Data; Data Set; Development; Faculty; Fostering; General Population; Genome; Genotype; Goals; HLA Antigens; Hospitals; Individual; Infrastructure; Link; Location; Manuals; Methodology; Methods; Mission; Musculoskeletal; Musculoskeletal Diseases; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Natural Language Processing; Numerical value; Outcome Measure; Patient Care; Patient Outcomes Assessments; Patients; Phenotype; Population Study; Publishing; Reporting; Research; Research Personnel; Resources; Rheumatism; Rheumatology; Screening procedure; Services; Software Design; Software Tools; Source Code; Standardization; Sum; Techniques; Time; Translating; Visualization; Woman; Work; advanced analytics; base; biobank; bioinformatics resource; bioinformatics tool; care outcomes; clinically relevant; complex data; data sharing; data visualization; design; direct application; diverse data; experience; genetic analysis; high dimensionality; improved; interest; multidimensional data; novel; novel strategies; open source; patient population; personalized medicine; phenome; phenotypic data; phenotyping algorithm; research study; risk variant; tool; translational study

ABSTRACT With the availability of high-dimensional data, the bottleneck in clinical research has shifted from a paucity of biologic data to a paucity of high quality phenotypic data. The promise of personalized medicine can only be realized if investigators can study the data of millions of subjects in an integrated dataset containing accurate phenotypes. Several challenges exist before we can realize this goal. First, robust methods are needed to integrate different types of data in large populations of patients, including electronic medical record (EMR) data, patient reported outcomes measures, and genotypic data, into high dimensional datasets. Second, novel approaches are needed to accurately and efficiently identify patients with specific phenotypes of interest. Addressing these challenges will allow us to translate the information from high-dimensional datasets to discoveries that can improve patient care. The overarching goal of the VERITY Bioinformatics Resource Core is to support the VERITY Research Community to apply state-of-the art bioinformatics methods to enhance clinical research in pediatric and adult rheumatic and musculoskeletal (MSK) diseases. Powerful bioinformatics methods and tools now exist that can provide the infrastructure to standardize and organize complex data. Consequently, researchers can query across formerly disparate datasets to analyze and summarize data using new visualization techniques, removing many of the barriers for translational studies. While these platforms were initially designed for general population studies, we will harness these tools for rheumatic and MSK disease research. Drawing on experience using high dimensional data for research, the Core faculty and staff will provide support and guidance to the VERITY Research Community on the methods and tools to incorporate these approaches to advance clinical research studies through the following Specific Aims: Aim 1. To establish and customize a state-of-the-art bioinformatics platform to support rheumatic and MSK clinical data for sharing and collaborative research. Sub-aims include: to establish a published, open-source bioinformatics platform that standardizes and integrates diverse data types, and allows users to visualize and query the data in real time; and to forge partnerships between the rheumatic and MSK clinical research and bioinformatics communities through core consulting services. Aim 2. To provide and support a suite of bioinformatics tools with direct applications to clinical research studies. In sum, the VERITY Bioinformatics Core will establish a state-of-the-art bioinformatics platform for rheumatic and MSK disease clinical research, applying principles of open-source code and data visualization. The Core will extend our current work to the Research Community working in different locations on a wide range of NIAMS-mission driven conditions. Moreover, the research questions arising from VERITY will present new methodologic challenges, driving advancement of bioinformatics methods and fostering new collaborations.

抽象的 随着高维数据的出现，临床研究的瓶颈已经从缺乏 生物数据缺乏高质量的表型数据。个性化医疗的承诺只能是 如果研究人员能够在包含准确数据的综合数据集中研究数百万受试者的数据，就可以实现这一点 表型。在实现这一目标之前，我们还存在一些挑战。首先，需要稳健的方法 整合大量患者的不同类型数据，包括电子病历 (EMR) 数据、患者报告的结果测量和基因型数据转化为高维数据集。二、新颖 需要准确有效地识别具有特定感兴趣表型的患者的方法。 解决这些挑战将使我们能够将信息从高维数据集转换为 可以改善患者护理的发现。 VERITY 生物信息学资源核心的总体目标 是支持 VERITY 研究社区应用最先进的生物信息学方法来增强 儿科和成人风湿病和肌肉骨骼 (MSK) 疾病的临床研究。 现在存在强大的生物信息学方法和工具，可以提供基础设施来标准化和 组织复杂的数据。因此，研究人员可以查询以前不同的数据集来分析 并使用新的可视化技术总结数据，消除了转化的许多障碍 研究。虽然这些平台最初是为一般人群研究而设计的，但我们将利用这些平台 风湿病和 MSK 疾病研究工具。借鉴使用高维数据的经验 研究，核心教职员工将为 VERITY 研究社区提供支持和指导 整合这些方法来推进临床研究的方法和工具 具体目标如下： 目标 1. 建立和定制最先进的生物信息学平台以支持 风湿病和 MSK 斯隆临床数据用于共享和协作研究。子目标包括：建立一个 已发布的开源生物信息学平台，可标准化和集成不同的数据类型，并允许 用户实时可视化和查询数据；并在风湿病和 MSK 斯隆之间建立合作伙伴关系 通过核心咨询服务进行临床研究和生物信息学社区。目标 2. 提供和 支持一套直接应用于临床研究的生物信息学工具。 总之，VERITY生物信息学核心将为以下领域建立最先进的生物信息学平台： 风湿病和 MSK 疾病临床研究，应用开源代码和数据可视化原理。 核心将把我们目前的工作扩展到在不同地点广泛工作的研究社区 NIAMS 任务驱动条件的范围。此外，VERITY 提出的研究问题将呈现 新的方法学挑战，推动生物信息学方法的进步并培育新的 合作。