Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4
bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) · Preprint
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Results
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Claims
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- Developer overlap: EVEE authors and Evo 2: Developer overlap EVEE is reported by its developers: 11 of its 23 authors, including the first and last authors, are Goodfire employees (Competing interests); 11 are at Mayo Clinic. Three EVEE authors, N. Nguyen, D. Balsam and N. K. Wang, also appear by name and initials in the author list of the Evo 2 preprint (bioRxiv 10.1101/2025.02.18.638918), so the Evo 2 based configurations are treated as author_reported. The match is by name only; affiliations were not compared. (EVEE v4 title page author list and 'Competing interests' (page 15); bioRxiv API details for 10.1101/2025.02.18.638918, field 'authors')
- Relevance of EVEE Evo 2 embedding extraction compute (Pearce et al. 2026) to "Select an execution workflow for large-scale diagnostic genomics": Assessed by EVEE Evo 2 embedding extraction compute (Pearce et al. 2026) (gfm-guide-20261014-source-evee-v4: Methods 'Genomic foundation model', paragraphs 'Harvesting' and 'Dataset' (page 8, line 461))
Models, benchmarks and other records
Methods (1)
Configurations (9)
- AlphaGenome all-folds composite score (Pearce et al. 2026)
- AlphaMissense hg38, pre-computed (Pearce et al. 2026)
- CADD v1.7 PHRED, pre-computed (Pearce et al. 2026)
- EVEE covariance probe on Evo 2 7B layer 27 (Pearce et al. 2026)
- Evo 2 7B loss-based zero-shot score (Pearce et al. 2026)
- Evo 2 7B mean-pooled embedding probe (Pearce et al. 2026)
- GPN-MSA hg38 scores, pre-computed (Pearce et al. 2026)
- NTv3 650M layer-11 embedding probe (Pearce et al. 2026 Figure 1d)
- NTv3 cosine distance (Pearce et al. 2026 Figure 1b and 1c)
Protocols (3)
Datasets (3)
Evaluations (13)
- AlphaGenome on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- AlphaMissense on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- CADD v1.7 on the EVEE ClinVar indel benchmark (Pearce et al. 2026)
- CADD v1.7 on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- EVEE Evo 2 7B embedding extraction compute (Pearce et al. 2026)
- Evo2 Covariance on the EVEE ClinVar indel benchmark (Pearce et al. 2026)
- Evo2 Covariance on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- Evo2 Loss on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- Evo2 Mean on the EVEE ClinVar indel benchmark (Pearce et al. 2026)
- Evo2 Mean on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- GPN-MSA on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
- NTv3 on the EVEE ClinVar indel benchmark (Pearce et al. 2026)
- NTv3 on the EVEE deconfounded ClinVar SNV benchmark (Pearce et al. 2026)
Evidence
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Evidence table
Inspect claims, sources and review details
Trace each statement to its source and review. A context-only reference supports the record generally; it does not verify an individual field. Source checking does not reproduce an experiment.
One row per statement and cited source. Multiple citations are not independent evaluations. Shared locators are labelled explicitly.
20 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.artifact_sha256 1d65b07059c50e8e3f88b8fde950f011630886097bf2784a6653282c6424eef8 Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Artifact url https://www.biorxiv.org/content/biorxiv/early/2026/07/11/2026.04.10.717844.full.pdf Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Doi 10.64898/2026.04.10.717844 Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
Evidence concerns2 values
| Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Hash scope SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Licence CC-BY-4.0 Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Media type application/pdf Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Publication status preprint Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Retrieval note Figure 1 heatmaps are raster images in the PDF; their printed cell values were read from a 300 dpi render of page 3 and matched against the manuscript repository's vector figure PDFs. Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
| Retrieved at 2026-10-14T12:02:25Z Source metadata | Interpretable variant effect prediction from genomic foundation model representations (EVEE), bioRxiv v4 No field-specific location recorded Version: bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11) | catalogued No individual claim review recorded Source has a recorded evidence concern. Consult its source page before using the claim. Audit detailsField: Source artifact SHA-256: Hash scope: SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present. |
Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Preprint PDF retrieved and hashed for the genomic foundation model guide sources pass (issue #138).
Technical metadata and extraction receipts
Stable ID: gfm-guide-20261014-source-evee-v4
- areas
- dna-genomes
- contexts
- research
- artifact url
- https://www.biorxiv.org/content/biorxiv/early/2026/07/11/2026.04.10.717844.full.pdf
- retrieved at
- 2026-10-14T12:02:25Z
- artifact sha256
- 1d65b07059c50e8e3f88b8fde950f011630886097bf2784a6653282c6424eef8
- doi
- 10.64898/2026.04.10.717844
- publication status
- preprint
- licence
- CC-BY-4.0
- url
- https://doi.org/10.64898/2026.04.10.717844
- version
- bioRxiv v4, posted 2026-07-11 (v1 posted 2026-04-11)
- media type
- application/pdf
- evidence concerns
- source id: gfm-guide-20261014-source-evee-v4; message: The column labelled 'NTv3' in Figure 1b and 1c is not the method the Methods describe. The manuscript repository's plotting code (scripts/figure1/_heatmap_common.py at e5e4a43) renames 'NTv3 cosine dist' to 'NTv3' and drops 'NTv3 subref probe', whereas Methods 'Baseline methods' describe NTv3 650M layer-11 embeddings with L2-regularised logistic regression under 5-fold gene-holdout cross-validation. Figure 1d's NTv3 column is the supervised subref probe. The SNV and deconfounded NTv3 values are recorded as a zero-shot embedding distance.; source locator: Figure 1b and 1c, column 'NTv3' (page 3); Methods 'Baseline methods', NTv3 (page 8); repository scripts/figure1/_heatmap_common.py RENAME_MAP and DROP_METHODS; artifact sha256: 1d65b07059c50e8e3f88b8fde950f011630886097bf2784a6653282c6424eef8; reviewed at: 2026-10-14T12:58:25Z; review method: automated-source-review; source id: gfm-guide-20261014-source-evee-v4; message: AlphaMissense's 'Overall' cell in Figure 1b and 1c is its missense AUROC. The plotting code blanks AlphaMissense outside missense and copies the Missense value into the Overall row (scripts/figure1/_heatmap_common.py, am_ov_mask), so it is computed on a different, missense-only population from the other methods' Overall cells.; source locator: Figure 1b and 1c, row 'Overall', column 'AlphaMissense' (page 3); repository scripts/figure1/_heatmap_common.py prepare(); artifact sha256: 1d65b07059c50e8e3f88b8fde950f011630886097bf2784a6653282c6424eef8; reviewed at: 2026-10-14T12:58:25Z; review method: automated-source-review
- retrieval note
- Figure 1 heatmaps are raster images in the PDF; their printed cell values were read from a 300 dpi render of page 3 and matched against the manuscript repository's vector figure PDFs.
- hash scope
- SHA-256 of one retrieval of the bioRxiv PDF (2026-10-14T12:02:25Z). bioRxiv stamps the PDF on each download (XMP ModifyDate, MetadataDate, DocumentID and InstanceID, the Info ModDate and the trailer /ID), so later retrievals differ. The extractor's copy was not retained, so the pinned bytes could not be re-verified. The independent reviewer's retrieval on 2026-10-14 (5,466,701 bytes, 26 pages, ModDate D:20261014063735-07'00') had SHA-256 9e2176440dfae6740b9e799796297cdd70b9bd59edb5c0a1e7fcdb5d6978710a; its Figure 1c and 1d match the repository vector PDFs cell for cell in the Overall rows, and the quoted Methods and Competing interests sentences are present.