Stanford's Kundaje: LLMs fall short on noncoding developmental variants where data is scarce
anshulkundaje · x · 2026-11-07
Stanford professor Anshul Kundaje argues that many unsolved genetic cases don't act through canonical protein-coding variants, but through highly context-specific effects in early developmental cell types and stages — requiring hard-to-obtain fetal and developmental samples.
- Both humans and LLMs need computational and experimental tools to crack these; both remain limited today.
- For coding variants, strong ML models and variant scores exist, and LLMs are useful to reconcile evidence and build causal narratives.
- For noncoding developmental effects, models need access to precious developmental-context data — the real bottleneck — with organoids and iPSC-derived cells only partially helpful.
Related event: Stanford professor argues rare disease bottleneck is biology, not AI(10 posts)→
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