Meet Us at ASHG 2025
Boston, MA
DATES: October 14-18 Booth #1047
Join our expert team at ASHG and discover the latest AI-driven end-to-end clinical sequencing solutions that are scaling genetic testing for our partners.
AI-Driven Genomic Interpretation
AI-Driven Genomic InterpretationMeet us at Booth #1047
CoLab
CoLabThursday 10/16, 3:15 – 3:45PM, Theater 2
Accurate and Scalable WGS variant prioritization for phenotype-free newborn screening (NBS) with GEM AI
Accurate and scalable variant prioritization is crucial in whole genome based disease diagnosis whether in the critical setting of a neonatal intensive care unit or across population-scale newborn screening. Population-scale newborn screening still presents greater challenges due to the absence of phenotype data and the requirement for extremely low false-positive rates. Even under these conditions, Fabric’s GEM AI maintains high accuracy—even when causative variants are not present in ClinVar. In recently published results, which are using new large-language-model capabilities, we are enabling scalable interpretation that identified more than 96% of true positives in a newborn cohort (Kingsmore et al., 2024) while maintaining an exceptionally low false-positive rate.
Already powering programs such as Gene Kids, a large-scale initiative with Intermountain Healthcare and the University of Utah, GEM AI is demonstrating how advanced interpretation can expand and enable lifelong reanalysis and personalized care. We will present how AI-enabled interpretation is bringing genomic medicine closer to everyday clinical practice.
