Alex retweetet

I have an ultrarare, pathogenic variant which is likely to kill me eventually unless biotech advances before then. Standard pathogenicity tools (e.g., REVEL, PolyPhen-2, ClinPred) do not work on this type of variant. What does? @goodfire's EVEE. It uses Evo2, so it's capable of generalization to this variant type, enabling downstream analyses to get disease risk estimates on biobank data

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