Data Management Core

项目摘要 为了支持对大量受未确诊疾病影响的患者进行诊断，创新软件 需要解决方案来简化和扩大业务。数据的数据管理核心 卓越诊断中心管理协调中心将领导设计和 实施这些解决方案，创建支持和扩展患者入组、数据收集 和分析拥有一个中央系统将有助于网络里程碑和基准报告， 随着时间的推移，确定和解决数据提交和质量问题。该平台将支持 收集和存储多模态数据数据类型，并扩展临床医生，研究人员， 和患者，从而导致协作解决问题和快速采用新的管道。数据 作为本项目的一部分，管理核心将侧重于以下四个具体目标：1）扩大网络 通过自动化、基于人工智能的分层分流/升级和集中式专家分析来提高容量，2）实施 面向患者的双向门户网站，以促进和加强数据收集和报告以及沟通 患者、临床医生和诊断团队之间的沟通，3）发展基于团队的沟通， 协作平台，用于网络级表型和基因型数据的有效分析，以及4）整合 并协调整个网络平台的工具。

PROJECT SUMMARY To support diagnosis for a larger number of patients impacted by undiagnosed conditions, innovative software solutions are needed to streamline and scale operations. The Data Management Core of the Data Management Coordinating Center for Diagnostic Centers of Excellence will lead the design and implementation of these solutions, creating platforms to support and scale patient enrollment, data collection, and analysis. Having one central system will facilitate Network milestone and benchmark reporting as well as identification and resolution of data submission and quality issues over time. The platform will support collection and storage of multi-modal data data types and expand connectivity between clinicians, researchers, and patients, leading to collaborative problem-solving and rapid adoption of novel pipelines. The Data Management Core will focus on the following four specific aims as part of this project: 1) Scale up Network capacity with automation, AI-based tier triage/escalation, and centralized expert analysis, 2) Implement a two-way patient-facing portal to facilitate and enhance data collection and reporting as well as communication between the patient, their clinician, and the diagnostic team, 3) Develop a team-based communication and collaboration platform for effective analysis of network-level phenotype and genotype data, and 4) Integrate and harmonize tools across the Network platform.