Dr. Shen has been a Clinical and Bioinformatics Scientist at Children's Hospital Los Angeles since 2015.

He began working with next-generation sequencing (NGS) in 2007 using the earliest Illumina platforms.

Dr. Shen previously held research positions at Cornell University and Harvard University and explored various applications of NGS and omics technologies. He has also built and maintained a global mitochondrial disease consortium’s web resource since 2013.

He has spent the last decade specializing in NGS-based genetic disease testing in both academic and commercial settings, including leading the bioinformatics team at a NASDAQ-listed precision medicine company in Hong Kong.

Dr. Shen is currently focused on developing generative AI-based solutions for precision medicine. Today, he will present his recent work on leveraging GenAI for genetic disease diagnosis and clinical data transformation in rare diseases.

Presentations

23x

“Millions-to-One, Words-to-Terms” – Generative AI Tools in Action for Rare Disease Diagnosis and Patient Data Harmonization

Precision medicine is constrained by two major data interpretation bottlenecks: the “Millions-to-one” challenge of filtering millions of genomic variants from next-generation sequencing to identify a single causative variant for molecular diagnosis reporting, and the “Words-to-terms” challenge of transforming unstructured clinical jargon into standardized, interoperable ontology terms. We present two novel Generative AI (GenAI) frameworks addressing these challenges. Both systems integrate contextual information with knowledge from curated medical databases and real-time web data. Evaluation using both open-source Kimi 2 and closed-source Gemini-2.5-pro yielded similarly accurate results.

See Presentation