Stanford's Kundaje Lab ports Illumina's PromoterAI to PyTorch, validates TERT promoter mutation scores

anshulkundaje · x · 2026-09-29

Kundaje Lab released promoterai-torch, a PyTorch port of Illumina's PromoterAI for prioritizing functional promoter variants. Running models in the same environment as benchmarking/interpretability pipelines reduces friction and standardizes the field. The post validates on TERT's recurrent C228T/C250T mutations: ensemble scores of 0.74 and 0.85, both past the paper's ±0.5 strong-effect threshold, consistent with gain-of-function telomerase reactivation.

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