Scientific Publications
and Talks
Upcoming Talks and Poster Abstracts
Scaling Newborn Screening Project - Where AI Can Help
International Consortium on Newborn Sequencing Conference - 2026, October 7-8, Boston
Scaling Newborn Screening with AI-Supported Genomic Interpretation: Opportunities and Challenges
APHL Newborn Screening Symposium - 2026, October 11-15, New Orleans
Scaling Genomic Medicine: Where AI Helps - and Where It Still Falls Short
ASHG Annual Meeting - 2026, October, 20-24, Montreal
Autonomous AI Interpretation of Genomic Data and Extraction of Clinical Data from FDA Drug Labels
ASHG Annual Meeting - 2026, October, 20-24, Montreal
Peer-reviewed Publications
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin HL, Gazzaz N, Huynh S, et al.
Genetics in Medicine. 2022;24(7):1512-1522.
Are CUL3 variants an underreported cause of congenital heart disease?
Di Francesco D, Swenerton A, Li WL, Dunham C, Hendson G, Boerkoel CF.
American Journal of Medical Genetics. 2023.
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Moller-Hansen A, Duha H, Hyun KL, et al.
American Journal of Medical Genetics. 2023.
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Sage A, Hyun K, Dalmann J, et al.
American Journal of Medical Genetics. 2023.
Scientific Talks, Posters, and Abstracts
Improving Transparency, Collaborative Variant Interpretation, and High-throughput Diagnostics: A Clinician’s Review of the Virtual Geneticist Platform.
Elbert A.
Presentation at the American Society of Human Genetics (ASHG), 2023. British Columbia Children’s Hospital.
Construct Interpreted Literature Database Using LLM.
Li L.
Lighting Talk at the American Society of Human Genetics, 2025.
AI Applications in Clinical Genomics.
Li L.
Floor presentation at the VIII International
Genetics Conference, 2026.
Functional profiling-based evaluation of GAA VUS in Pompe disease using a transient expression system upgraded for capacity and robustness.
Goomber S.
Floor presentation at World Symposium, 2026.
Scaling Rare Disease Diagnosis with Confidence, AI in Precision Medicine: Opportunities and Limits.
Li L.
Tri-Con Precision Medicine Innovation Conference. May 2026
Empowering Rural Genetic Healthcare through AI: Use of Virtual Geneticist to Enhance Genetic Test Result Interpretation in Clinical Practice.
Pallister TJ.
Poster presentation at the American Society of Human Genetics, 2025.