GenomicsbioRxivPreprint
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Interpretable variant effect prediction from genomic foundation model embeddings
Michael T. Pearce, Thomas Dooms, Ryo Yamamoto…·Nicholas K. Wang
A low-rank covariance probe on Evo 2 embeddings predicts ClinVar pathogenicity across SNVs and indels, while annotation probes plus an LLM produce mechanistic hypotheses; scores released for 4.2 million variants.
2 citations