Multi-Source Graph Synthesis (MUGS) for Pediatric Knowledge Graphs from Electronic Health Records

medrxiv(2024)

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摘要
The wealth of valuable real-world medical data found within Electronic Health Record (EHR) systems is particularly significant in the field of pediatrics, where conventional clinical studies face notably high barriers. However, constructing accurate knowledge graphs from pediatric EHR data is challenging due to its limited content density compared to EHR data for the general population. Additionally, knowledge graphs built from EHR data primarily covering adult patients may not suit the unique biomedical characteristics of pediatric patients. In this research, we introduce a graph transfer learning approach aimed at constructing precise pediatric knowledge graphs. We present MUlti-source Graph Synthesis (MUGS), an algorithm designed to create embeddings for pediatric EHR codes by leveraging information from three distinct sources: (1) pediatric EHR data, (2) EHR data from the general population, and (3) existing hierarchical medical ontology knowledge shared across different patient populations. We break down these code embeddings into shared and unshared components, facilitating the adaptive and robust capture of varying levels of heterogeneity across different medical sites through meticulous hyperparameter tuning. We assessed the quality of these code embeddings in recognizing established relationships among pediatric codes, as curated from credible online sources, pediatric physicians, or GPT. Furthermore, we developed a web API for visualizing pediatric knowledge graphs generated using MUGS embeddings and devised a phenotyping algorithm to identify patients with characteristics similar to a given profile, with a specific focus on pediatric pulmonary hypertension (PH). The MUGS-generated embeddings demonstrated resilience against negative transfer and exhibited superior performance across all three tasks when compared to pediatric-only approaches, multi-site pooling, and semantic-based methods. MUGS embeddings open up new avenues for evidence-based pediatric research utilizing EHR data. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This work was additionally supported in part by U01TR002623 from the National Center for Advancing Translational Sciences/NIH and by the PrecisionLink Project at Boston Children's Hospital ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: Ethics Committee/IRB of Mass General Brigham and Ethics Committee/IRB of Boston Children's Hospital gave ethical approval for this work involving the use of summary-level data. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes All data produced in the present study are available upon reasonable request to Boston Children's Hospital and Mass General Brigham.
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