Variant interpretation moves into the hospital server room: a 9B local model writes ACMG reports and recovers 93% of causal variants in 327 singleton cases
A 9B small language model running on one local GPU performs case-level and trio-based variant interpretation, recovering 93% of expert-reported causal variants across 327 solved singleton visual-impairment cases and classifying 82% of them as pathogenic or likely pathogenic.