The research study assessed the diagnostic performance of Fabric GEM, a new, AI-based, clinical decision support tool for expediting genome interpretation.
Despite differences in case collection, sequencing methods, and bioinformatics pipelines across all sites, Fabric GEM ranked the causative variant first or second more than 90% of the time in a new study, which included 119 Rady patients, mostly NICU infants, with rare genetic diseases.