Data Management Core

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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.