Integrative Bioinformatics Core

项目概要/摘要-综合生物信息学核心 精准医学是一种新兴的疾病预防，早期发现和治疗的综合方法 它考虑了遗传学、病史、环境暴露和生活方式的个体差异。 基因组和其他分子分析技术的发展和可用性， 电子健康记录（EHR）的部署为应用精确性提供了前所未有的机会 风湿病研究中的医学策略。综合生物信息学（IB）核心的总体目标 是为研究人员提供最先进的计算方法来研究风湿性关节炎， 紊乱由计算生物学和生物信息学领域的领先专家指导，IB核心将提供 研究者在研究设计、生物信息学数据分析、数据整合和数据 传播。为了在精准医学的背景下推进风湿病研究，IB核心将 为中心社区提供项目咨询、教育和推广，以及分析和 整合高质量的基因组学、分子和临床数据。在与基因组学和 分子资源（GMR）和人类受试者和临床表型（HSCP）核心，IB核心将 协助研究人员进行生物信息学分析，以推进风湿病学的精准医学。与 我们提出以下目标。在目标1中，我们将提供研究分析咨询服务， 设计、数据分析和与公共数据集的数据集成，以推进精准医疗， 风湿病研究。在目标2中，IB核心将开发新的工具，软件和分析管道 用于临床和分子研究数据的整合、注释、分析、检索和呈现 风湿性疾病。为了实现这一目标，我们将进一步建立和维持一个技术先进的 最新的工具集，可随时用于系统级的数据分析。目的3是整合分子 利用GMR和HSCP核心之间的合作， 为广泛的临床、转化和基础研究提供计算分析， 风湿病学医学最后，在目标4中，我们将提供集中的数据管理和存储 包括协助利用免疫学数据库传播P30相关项目的数据， 分析门户（ImmPort）。IB核心将汇集来自不同背景的研究人员， 研究人员的工作可以受益于获得最先进的计算技术， 方法，总体目标是推进风湿病学的精准医学。

PROJECT SUMMARY/ABSTRACT – Integrative Bioinformatics Core Precision medicine is an emerging integrative approach for disease prevention, early detection and treatment that takes into account individual variability in genetics, medical history, environmental exposures, and lifestyle. The development and availability of genomic and other molecular profiling technologies in combination with the deployment of electronic health records (EHR) provide an unprecedented opportunity to apply precision medicine strategies in rheumatic disease research. The overall goal of the Integrative Bioinformatics (IB) Core is to provide researchers with access to state-of-the-art computational approaches for the study of rheumatic disorders. Directed by leading experts in computational biology and bioinformatics, the IB Core will provide investigators with assistance in study design, bioinformatics data analysis, data integration and data dissemination. To advance rheumatic disease research in the context of precision medicine, the IB Core will provide project consultation, education, and outreach for the Center community, as well as the analysis and integration of high quality genomics, molecular and clinical data. In collaboration with the Genomics and Molecular Resources (GMR) and Human Subjects and Clinical Phenotyping (HSCP) Cores, the IB Core will assist researchers with bioinformatics analysis to advance precision medicine in rheumatology. With those goals in mind we propose the following aims. In Aim 1, we will provide analytical consulting services in study design, data analysis and data integration with public datasets in order to advance precision medicine in rheumatic disease research. In Aim 2, the IB Core will develop novel tools, software and analytical pipelines for the integration, annotation, analysis, retrieval, and presentation of data from clinical and molecular studies of rheumatic diseases. As a result of this Aim, we will furthermore establish and maintain a technologically up- to-date toolset that can be readily used for systems-level analyses of the data. Aim 3 is to integrate molecular and clinical data and leverage collaborations between the GMR and HSCP Cores and facilitate integrative computational analysis for a wide range of clinical, translational and basic research studies to enable precision medicine in rheumatology. Finally, in Aim 4, we will provide centralized data management and storage including assistance in dissemination of data for P30 associated projects using the Immunology Database and Analysis Portal (ImmPort). The IB Core will bring together researchers from different backgrounds and enable investigators whose work can benefit from access to state-of-the-art computational technologies and approaches, with an overall goal of advancing precision medicine in rheumatology.