Data Management Core

项目总结 为了支持对更多受未诊断疾病影响的患者进行诊断，创新的软件 需要解决方案来简化和扩展运营。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，创建平台以支持和扩展患者登记、数据收集、 和分析。拥有一个中央系统将促进网络里程碑和基准报告以及 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 收集和存储多模式数据数据类型，并扩展临床医生、研究人员、 和患者，导致协作解决问题和快速采用新型管道。数据 作为该项目的一部分，Management Core将重点关注以下四个具体目标：1)扩展网络 通过自动化、基于AI的分层分类/上报和集中的专家分析实现能力，2)实施 双向面向患者的门户，以促进和加强数据收集和报告以及沟通 在患者、他们的临床医生和诊断团队之间，3)建立基于团队的沟通和 网络级表型和基因数据有效分析的协作平台，以及4)集成 并协调整个网络平台上的工具。

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.