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.

摘要 随着高维数据的可用性，临床研究的瓶颈已经从缺乏 从生物学数据到缺乏高质量的表型数据。个性化医疗的承诺只能是 意识到如果研究人员可以在一个包含准确数据的综合数据集中研究数百万受试者的数据， 表型在我们实现这一目标之前，存在着若干挑战。首先，需要有强有力的方法， 整合大量患者中不同类型的数据，包括电子病历（EMR） 数据，患者报告的结果测量，和基因型数据，到高维数据集。二、新颖 需要准确和有效地鉴定具有感兴趣的特定表型的患者的方法。 解决这些挑战将使我们能够将信息从高维数据集转换为 可以改善病人护理的发现。VERITY生物信息学资源核心的总体目标 支持VERITY研究社区应用最先进的生物信息学方法， 儿童和成人风湿性和肌肉骨骼（MSK）疾病的临床研究。 强大的生物信息学方法和工具现在已经存在，可以提供标准化的基础设施， 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进行分析， 并使用新的可视化技术总结数据，消除了翻译的许多障碍， 问题研究虽然这些平台最初是为一般人群研究设计的，但我们将利用这些平台， 用于风湿病和MSK疾病研究的工具。利用高维数据的经验 研究，核心教师和工作人员将提供支持和指导，以真理研究社区 方法和工具，以纳入这些方法，以推进临床研究， 具体目标：目标1。建立和定制最先进的生物信息学平台， 风湿和MSK临床数据共享和合作研究。次级目标包括： 一个已发布的开源生物信息学平台，可以分析和集成各种数据类型，并允许 用户可视化和查询数据在真实的时间，并建立合作伙伴关系之间的风湿和MSK 临床研究和生物信息学社区通过核心咨询服务。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生物信息学核心将建立一个最先进的生物信息学平台， 风湿病和MSK疾病的临床研究，应用开源代码和数据可视化的原则。 核心将把我们目前的工作扩展到研究社区，在广泛的 NIAMS任务驱动条件的范围。此外，从VERITY产生的研究问题将呈现 新的方法学挑战，推动生物信息学方法的进步， 合作。