DeepMind's AVI Score Uses Common-vs-Rare Variant Frequency as a Noisy Neutrality Proxy

anshulkundaje · x · 2026-09-18

In a detailed thread, Anshul Kundaje explains how AlphaGenome Variant Impact (AVI) trains a classifier using common variants (frequency ≥0.1%) as a noisy proxy for neutral/benign variants versus rarer variants as a noisy proxy for variants enriched with potential functional impact.

Related event: Stanford expert defends AlphaGenome variant scores in detailed thread, rebutting "AI slop" criticism(20 posts)→

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