ASHG'S Virtual Symposium, September 24 and 25

We will discuss benefits and emerging challenges in sharing biomedical research data. We will draw on experiences from the Electronic Medical Records and Genomics (eMERGE-IV) Network and consider the ethical, legal and social issues that arise.

Adelaide Tovar, PhD, will present her HGG Advances paper on how massively parallel reporter assay (MPRA) design can alter enhancer activity across the same set of fragments. She and co-authors found that using a tissue-specific promoter in MPRAs instead of a generic housekeeping promoter can enhance detection of activity from tissue-specific regulatory elements.

Hyun-Hwan Jeong, PhD, will present his AJHG paper on MARRVEL-MCP, an AI-powered computational tool that simplifies genetic variant interpretation using natural language queries. The platform integrates curated biomedical databases with large language models to accelerate rare disease diagnosis and improve accessibility for non-expert users.

Hector Rodrigo Mendez, MD, will present “RNUopathies: A New Frontier in Genetics,” offering a comprehensive overview of this emerging class of splicing disorders. Building on this foundation, he will discuss his recent findings on how bi-allelic RNU6ATAC variants drive transcriptome-wide minor intron retention and complex multisystem manifestations.