Genomics researcher defends AI variant prioritization paper: validation already sufficient

anshulkundaje · x · 2026-09-18

In an ongoing thread about a disease variant prioritization paper, genomics researcher Anshul Kundaje acknowledges that more experimental validation and direct testing is needed — but argues the paper's presented evaluation is more than sufficient to support its claims: that the score is likely a useful variant prioritization tool and the resource serves as a useful lookup table for anyone.

The exchange reflects a broader debate over how much experimental validation computational scoring tools require before publication.

Related event: Stanford's Kundaje Reviews DeepMind's AVI Score: Competitive, Not Revolutionary, and Not "AI Slop"(35 posts)→

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