claim
active
claim:evee-provides-predictions-and-mechanistic-explanations-for-4-2-million-genetic-variants-across-the-whole-human-genomeEvee provides predictions and mechanistic explanations for 4.2 million genetic variants across the whole human genome
Scale claim, demonstrating whole-genome applicability.
Source paper
extracted_from(2026) · Pearce, Michael · Dooms, Thomas · Yamamoto, Ryo · Meehl, Joshua +18
Neighborhood — ranked by edge-count
Papers (1)
paper
Findings (1)
finding
- Scale of interpretability output, addressing a major clinical need for VUS resolution.
Communities (3)
community
- Spans attention head decomposition, benchmark awareness, and genomic pathogenicity prediction via neural models.
- Using genomic foundation model internals to generate disruption profiles that explain variant effects mechanistically, achieving 0.997 AUROC on ClinVar pathogenicity prediction.
- EVEE tool predicts and mechanistically explains effects of 4.2M human genome variants using model internals.
Related by similarity (8)
cosine ≥ 0.65 · no typed edgeEntities in the same semantic neighborhood but without a typed relation to this one — candidates for new edges or unrecognized duplicates.
- Core interpretability claim distinguishing EVEE from black-box prediction tools; applies interpretability for science.
- Interpretive claim supported by the high AUROC findings.
- The method that predicts and explains variant pathogenicity using Evo 2, producing disruption profiles.
- Model internals of genomic foundation models can yield mechanistic explanations for variant effectsclaim0.717Foundational interpretability claim that the paper exemplifies.
- I believe it will also turn out to be the secret of the evolution of the genes controlling the living structure of the Earth.hypothesis0.715Predicts that the principle of small, independent process genes will drive evolution of the built environment.
- Subclaim.
- Watson's reinterpretation of formal equivalence between evolution and learning, beyond random variation framework.
- Schrödinger's statement of the puzzle that quantum mechanics resolves.