Epilepsy gene discovery jumps 6x: 15.77M variants, 20,979 cases, with DeepMind's Argon model
anshulkundaje · x · 2026-10-27
A researcher says a day working with Google DeepMind's Argon model helped him 'dissect epilepsy': analyzing 15.77M coding variants across 20,979 epilepsy cases and 33,444 controls (Epi25) in the ultra-rare regime (AF < 0.0001). Using collinearity-free unified WLS meta-regression pairing 100% Firth 2x2 rescue with AlphaMissense, pLoF, and base-pair WES HMM constraint (median VIF = 1.019), exome-wide significant ultra-rare gene discovery jumped nearly 6-fold (6 to 36 pairs; 35 strict / 67 exome-wide genes), with near-zero protein-length confounding (r = +0.091) and 50–80% of within-gene variance explained in compact synaptic and metabolic proteins, yielding 6 core neurobiological modules.
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