Data Integration Core

摘要 阻塞性睡眠呼吸暂停（OSA）是一种常见的慢性疾病，影响全球超过10亿人。 未诊断和未治疗的OSA也与巨大的经济负担相关，占总死亡人数的10%。 估计每年耗资1496亿美元。鉴于重大疾病负担和相关经济成本 对于未确诊和未治疗的OSA，需要一个强大的临床研究框架来解决预防问题， OSA的诊断和治疗。P4医学方法阻塞性睡眠呼吸暂停，推动这一整体 计划项目旨在进行科学研究，预测谁会发展障碍，预防OSA， 它的不良后果，个性化的诊断，治疗和临床护理。为了研究OSA 通过本计划中的项目，来自各种数据源的多样化和复杂的数据，包括 电子健康记录（EHR）、每日持续气道正压通气（CPAP）使用和依从性 必须研究信息、遗传学和分子生物标志物。为了有效地回答科学问题 根据每个项目的要求，我们构建了一个数据集成核心（Core C）来收集、集成和分析 从这些不同的数据来源获得的信息。我们的团队将由主任约翰·霍姆斯博士领导， 拥有超过35年数据库设计经验的医学信息学家和流行病学家， 实施，开发临床研究信息系统，并与 生物统计学家和临床研究人员。核心C将由共同主任Danielle Mowery博士共同领导，他是一名临床医学博士。 拥有数据科学、机器学习和临床研究信息学专业知识的信息学家，以及Diego博士 Mazzotti说，他是一位睡眠医学研究人员，在生物医学信息学方面接受过专门的培训。核心C领导力 和支持人员带来了数十年的临床研究，睡眠医学，数据科学，信息学， 数字健康、基因组科学、流行病学和生物统计学。总体而言，核心C将提供数据收集 和管理资源，以及开发和采用先进的数据处理方法， 整合和分析，以支持所有项目。我们还将实施与临床所有阶段相关的战略， 研究数据管理，包括临床数据库挖掘，异构数据源的集成，以及 根据可查找、可解释、可互操作和可重用（FAIR）原则进行数据表示， 工具和方法是开源的，可供整个生物医学研究界使用。

ABSTRACT Obstructive sleep apnea (OSA) is a common chronic disorder affecting over 1 billion people worldwide. Undiagnosed and untreated OSA is also associated with a substantial economic burden, accounting for an estimated annual cost of $149.6 billion. Given the significant disease burden and economic costs associated with undiagnosed and untreated OSA, a robust clinical research framework is needed to address the prevention, diagnosis, and treatment of OSA. The P4 Medicine approach to Obstructive Sleep Apnea that drives this overall Program Project aims to conduct scientific studies that predict who will develop the disorder, prevent OSA and its adverse consequences, and personalize diagnoses, therapies, and clinical care. In order to study OSA through the Project in this Program, diverse and complex data from a variety of data sources, including the electronic health record (EHR), daily continuous positive airway pressure (CPAP) usage and adherence information, genetics, and molecular biomarkers must be studied. To effectively answer the scientific questions posed by each Project, we have constructed a Data Integration Core (Core C) to collect, integrate, and analyze information derived from these varied data sources. Our team will be led by Director Dr. John Holmes, an established medical informatician and epidemiologist with over 35 years of experience in database design and implementation, development of information systems for clinical research, and analytic collaborations with biostatisticians and clinical researchers. Core C will be co-led by co-Directors Dr. Danielle Mowery, a clinical informatician with expertise in data science, machine learning, and clinical research informatics, and Dr. Diego Mazzotti, a sleep medicine researcher with specific training in biomedical informatics. The Core C leadership and support staff bring decades of experience in clinical research, sleep medicine, data science, informatics, digital health, genome science, epidemiology, and biostatistics. Collectively, Core C will provide data collection and management resources, as well as development and incorporation of cutting-edge approaches to data integration and analysis to support all Projects. We will also implement strategies related to all stages of clinical research data management, including clinical database mining, integration of heterogeneous data sources, and data representation according to Findable, Accessible, Interoperable and Reusable (FAIR) principles, making all tools and approaches open-source and available to the biomedical research community at large.