Scientist Boston Children's Hospital Skillman, New Jersey, United States
Description: This presentation will explore the innovative use of large language models in clinical phenotype-driven gene prioritization. We will also discuss the development of AI-driven tools for diagnostic test selection for community pediatricians. Additionally, we will cover the barriers and lessons learned in returning genomic-informed risk to EHRs and communicating these findings to providers and patients.
Learning Objectives: 1. Understanding the application of advanced techniques such as large language models in clinical genetics. 2. Understanding the application of polygenic risk scores in clinical genetics.