Integrative Bioinformatics Core

摘要 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 这考虑了个体在遗传、病史、环境暴露和生活方式方面的差异。 基因组和其他分子图谱技术的发展和可获得性，特别是最近 单细胞分析的进展与电子健康记录(EHR)的部署相结合，提供了 在风湿病研究中应用精确医学策略的前所未有的机会。目标是 综合生物信息学(IB)的核心是为研究人员提供最先进的计算 风湿性疾病的研究方法。由顶尖的计算生物学专家和 生物信息学，IB核心将为研究人员提供研究设计方面的协助；生物信息学分析 临床和批量及单细胞组学数据；数据整合；以及数据传播。推进风湿病 疾病研究在精确医学的背景下，IB核心将与基因组公司合作 技术(GT)和临床数据信息学(CDI)核心，为分析和 整合高质量的基因组、分子和临床数据。考虑到这些目标，我们提出以下建议 目标。在目标1中，我们将在研究设计、数据分析和数据集成方面提供分析咨询服务 以推进精准医学在风湿病研究中的应用。在目标2中，IB核心 将开发新的工具、软件和分析管道，用于集成、注释、分析、检索和 介绍风湿性疾病的临床和分子研究数据，包括单细胞测序 和CyTOF数据。作为这一目标的结果，我们将进一步建立和保持技术上的最新 可随时用于系统级数据分析的工具集。目标3是将分子和 临床数据并利用GT和CDI核心之间的协作来促进综合计算 对广泛的临床、转化和基础研究进行分析，以实现精准医学 风湿病。最后，在目标4中，我们将提供集中的内部和外部数据管理和存储 包括协助使用加州大学旧金山分校数据库的实时项目开发和数据传播 对于使用免疫学数据库和分析门户(ImmPort)的P30相关项目。IB核心将 将来自不同背景的研究人员聚集在一起，使其工作可以受益于 获得最先进的计算技术和方法，总体目标是推动 风湿病的精准医学。

ABSTRACT 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, particularly with recent advances in single-cell profiling, in combination with the deployment of electronic health records (EHR) provide an unprecedented opportunity to apply precision medicine strategies in rheumatic disease research. The goal of the Integrative Bioinformatics (IB) Core is to provide researchers with 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 analysis of clinical and bulk- and single-cell omics data; data integration; and data dissemination. To advance rheumatic disease research in the context of precision medicine, the IB Core will work in collaboration with the Genomic Technology (GT) and Clinical Data Informatics (CDI) Cores to provide tools and workflows for the analysis and integration of high quality genomic, molecular and clinical data. 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 including single-cell sequencing and CyTOF data. 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 GT and CDI Cores to 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 internal and external data management and storage including assistance in real-time project development using the UCSF Data Library and 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.