variant of uncertain significance (VUS)

Entities in the same semantic neighborhood but without a typed relation to this one — candidates for new edges or unrecognized duplicates.

• Mechanistic explanations provided for ~2M variants of uncertain significancefinding0.739
  Scale of interpretability output, addressing a major clinical need for VUS resolution.
• Interpretable predictions can help resolve variants of uncertain significanceclaim0.737
  Motivating claim that mechanistic explanations add clinical value for VUS.
• Uncertainty Weighting (UW)method0.729
  Loss balancing using homoscedastic uncertainty.
• Consciousness As Uncertaintyconcept0.727
• Evee variant effect prediction methodmethod0.706
  The method that predicts and explains variant pathogenicity using Evo 2, producing disruption profiles.
• We observe features related to a broad range of safety concerns, including deception, sycophancy, bias, and dangerous content.claim0.701
  SAEs uncover safety-relevant representations that might be monitored or controlled.
• precision (conditional certainty)concept0.697
  Encoding of prediction confidence; proposed role for dopamine beyond reward signalling.
• Variant pathogenicity predictionconcept0.695
  Core task of predicting whether genetic variants cause disease, central to clinical genomics.