AI-driven mutation discovery: Linking literature, ontologies, and patient genomics for precision gene therapy

Maaly Nassar, 2025. AI-driven mutation discovery: Linking literature, ontologies, and patient genomics for precision gene therapy. Presented at the 25th Annual Meeting of the Genomic Standards Consortium (GSC25): Celebrating 20 Years of Genomic Standards and ~30 Years of Genome Sequences, Clare College, Cambridge, UK, July 29–August 1 2025.