
Dr. Cong Liu’s research sits at the intersection of biomedical informatics, artificial intelligence, and rare disease diagnosis. He is the Principal Investigator of the NIH-funded RESCUE project (Rare Disease Detection and Escalation Support via a Learning Health System), focused on developing intelligent systems that integrate structured and unstructured health data to support diagnostic decision-making. He has developed tools for phenotype-driven gene ranking, HPO-based NLP, and pediatric molecular test recommendation. His recent work leverages large language models for phenotype normalization, concept extraction, and gene prioritization, advancing natural language understanding in clinical genomics.
Currently, Dr. Liu is building and validating mutiple-agentic systems that interact with EHRs, insurance systems, laboratories, and clinical teams to streamline tasks such as triage, test ordering, diagnosis, and patient communication. The system is designed to align with existing clinical roles, SOPs, and organizational structures, and are being evaluated in real-world settings. His work integrates FHIR standards, decision support algorithms, and human-AI collaboration to enhance diagnostic efficiency, equity, and scalability. Dr. Liu is also an active contributor to national consortia including eMERGE and OHDSI, helping develop interoperable frameworks for integrating polygenic risk scores and real-world evidence into clinical care.