Papers, Presentations & Perspectives
Beyond building institutional capacity, ODS aims to lead the national conversation on data science, AI, and pediatric research. Since our founding in 2024, we have made substantial contributions to this space through scientific publications, presentations at national and international conferences, and data collaborations across institutional scales. Many of these have been highlighted by institutional and extramural press outlets, underscoring their profile and impact.
Publications
Data Collaborations at Nationwide Children’s
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients (2026)
- Genetic Evaluation Practices for Neonates with Congenital Heart Disease in Pediatric Cardiac Intensive Care Units: Findings from a Multi-institutional Survey (2025)
- Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease (2025)
Genomics and Artificial Intelligence
- PheBee: A Graph-Aware System for Scalable, Traceable, and Semantic Phenotyping (2026, Preprint)
- CNVoyant: a machine learning framework for accurate and explainable copy number variant classification (2024)
- CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation (2024)
- SNVstory: inferring genetic ancestry from genome sequencing data (2024)
- NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
Real-World Evidence and Multi-Institutional Data Collaborations
- Maternal and Pediatric Precision in Therapeutic Knowledge Portal (MPRINT-KP): Landscape Analysis of Pharmacology Research in Maternal and Pediatric Patient Populations (2026)
- Development and validation of a multi-institutional electronic juvenile idiopathic arthritis phenotype (2026)
- Derivation and Validation of an Algorithm for Maternal-Child Linkage in Electronic Health Records (2026)
- Operationalizing a research-oriented learning healthcare system across covered entities: cross-institutional strategies and innovations (2025)
- The MPRINT Hub Data, Model, Knowledge and Research Coordination Center: Bridging the gap in maternal–pediatric therapeutics research through data integration and pharmacometrics (2023)
Pediatrics Nationwide Articles
- New Frontiers for Data Science in Pediatric Research – Pediatrics Nationwide
- A Novel Method of Data Analysis Enables Identification of Genetic Drivers of Pediatric Cancer – Pediatrics Nationwide
- Nationwide Children’s Team Builds Award-Winning AI Tool to Drive Mental Health Research – Pediatrics Nationwide
- Genomic Analysis: Overcoming a Formidable Challenge – Pediatrics Nationwide
- Featured Researcher – Christopher Bartlett, PhD – Pediatrics Nationwide
- Demystifying Machine Learning With AutoML – Pediatrics Nationwide
- Beyond the Wow Factor: Artificial Intelligence in Pediatrics – Pediatrics Nationwide
- Researchers Classify High-Risk Variants in Lamin A/C Cardiac Disease Using Machine Learning – Pediatrics Nationwide
- Discovering the Genetic Causes of Congenital Heart Defects – Pediatrics Nationwide
Presentations
- PheBee: A Graph-Based System for Scalable, Traceable, and Semantic Phenotyping. American Medical Informatics Association (AMIA) Amplify Informatics Conference (2026) *Selected for podium presentation
- Leveraging LLM-Driven Weak Supervision to Classify Infant Feeding Behavior from Clinical Notes. AMIA Amplify Informatics Conference (2026) *Selected for podium presentation
- Zero-Copy by Design: A Governance Framework for Cross-Hospital Secondary Use of Clinical Data. AMIA Amplify Informatics Conference (2026) *Selected for podium presentation
- The Genetic Basis of Early Mortality in Neonates with Single Ventricle Disease: An NC-DEFINE Prospective Observational Cohort Study (2025) *Selected for podium presentation
- Closing the CHD Diagnostic Gap: AI-Enhanced Discovery of Disease-Causal Genetic Variants. The American Heart Association Annual Meeting, New Orleans, LA (2025)
- GENIUS: Genomic Evaluation using Next-generation Intelligence for Understanding & Swift Diagnosis. Intelligent Systems for Molecular Biology (ISMB). Liverpool, UK (2025) *Selected for podium presentation
- PheBee: A Graph-Based System for Scalable, Traceable, and Semantically Aware Phenotyping. Intelligent Systems for Molecular Biology (ISMB). Liverpool, UK (2025) *Selected for podium presentation
- Contextualizing Phenotypes in Medical Notes with Small Language Models. Intelligent Systems for Molecular Biology (ISMB). Liverpool, UK (2025) *Selected for podium presentation
- ChiVaLRi and CheX: AI-driven Prioritization of Genetic Variants in Congenital Heart Diseases. Intelligent Systems for Molecular Biology (ISMB). Liverpool, UK (2025)
- VarRNA—Variant calling from RNA-seq data reveals allele-specific differential expression of pathogenic cancer variants. Biological Data Science, Cold Spring Harbor Laboratory, NY (2024)
- The PrecisionFDA AutoML Challenge: Is AutoML Ready for Clinical Healthcare? Biological Data Science. Cold Spring Harbor Laboratory, NY (2024)