Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8)
13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 · Peer-reviewed
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Records in this release that cite this source. A record can cite several sources.
Results
Values as the source printed them. Compare results only under compatible protocols, datasets and metrics.
Claims
Statements this source supports, each with where in the source it was checked.
- Relevance of vep-lit-20261014-protocol-livesey2025-clinical-auroc to use-case-brca1-brca2-germline-interpretation: Assessed by Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S8; Methods)
- Relevance of vep-lit-20261014-protocol-livesey2025-clinical-auroc to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S8; Methods 'ClinVar and gnomAD data', 'AUROC and AUPRC')
- Relevance of vep-lit-20261014-protocol-livesey2025-clinical-auroc to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S8; Methods 'ClinVar and gnomAD data', 'AUROC and AUPRC')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-all to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S3; Methods 'Spearman's correlation and rank score')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-all to use-case-protein-variant-effect-prediction: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S3; Methods 'Spearman's correlation and rank score'; vep-lit-20261014-source-livesey2025-article: Methods 'DMS datasets')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-all to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S3; Methods 'Spearman's correlation and rank score')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-direct to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-direct to use-case-protein-variant-effect-prediction: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results; vep-lit-20261014-source-livesey2025-article: Methods 'DMS datasets')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-direct to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-indirect to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-indirect to use-case-protein-variant-effect-prediction: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results; vep-lit-20261014-source-livesey2025-article: Methods 'DMS datasets')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-indirect to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S5; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S6; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv to use-case-protein-variant-effect-prediction: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S6; Results; vep-lit-20261014-source-livesey2025-article: Methods 'DMS datasets')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S6; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv-filled to use-case-missense-pp3-bp4-calibrated-evidence: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S7; Results)
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv-filled to use-case-protein-variant-effect-prediction: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S7; Results; vep-lit-20261014-source-livesey2025-article: Methods 'DMS datasets')
- Relevance of vep-lit-20261014-protocol-livesey2025-dms-snv-filled to use-case-rare-disease-candidate-ranking: Assessed by Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled (vep-lit-20261014-source-livesey2025-supplementary-2: Supplementary Material 2 Table S7; Results)
- tables_not_extracted: vep-lit-20261014-source-livesey2025-supplementary-2: Tables not extracted Not extracted as results: the pairwise win-rate matrix bodies of Tables S3 (97 x 97) and S8 (85 x 85), kept only through each VEP's rank_score, proteins and top_5_winrate columns; Table S4 (bootstrap counts behind the Figure 2 error bars); the absolute_difference column of Table S5 (a difference of two extracted values); Tables S1 and S2, used for dataset and configuration descriptions; Figures 1-4 and Supplementary Figs. S1-S6 (no printed values; the AUPRC ranking of Fig. S5 is figure-only); the figshare deposits of per-variant predictions and scripts. (Supplementary Material 2 Legends and Tables S1-S8; Figures 1-4; Data availability)
Models, benchmarks and other records
Methods (27)
Configurations (99)
- 3Cnet (Livesey and Marsh 2025)
- AlphaMissense (Livesey and Marsh 2025)
- AlphScore (Livesey and Marsh 2025)
- BayesDel (Livesey and Marsh 2025)
- BayesDel_noAF (Livesey and Marsh 2025)
- BLOSUM62 (Livesey and Marsh 2025)
- CADD (Livesey and Marsh 2025)
- CADD_1.6 (Livesey and Marsh 2025)
- CADD_1.7 (Livesey and Marsh 2025)
- CAPICE (Livesey and Marsh 2025)
- CARP (Livesey and Marsh 2025)
- ClinPred (Livesey and Marsh 2025)
- CONDEL (Livesey and Marsh 2025)
- COSMIS (Livesey and Marsh 2025)
- CPT-1 (Livesey and Marsh 2025)
- DANN (Livesey and Marsh 2025)
- DeepSAV (Livesey and Marsh 2025)
- DeepSequence (Livesey and Marsh 2025)
- DeMaSk (Livesey and Marsh 2025)
- DEOGEN2 (Livesey and Marsh 2025)
- Eigen (Livesey and Marsh 2025)
- Envision (Livesey and Marsh 2025)
- ESCOTT (Livesey and Marsh 2025)
- ESM-1b (Livesey and Marsh 2025)
- ESM-1v (Livesey and Marsh 2025)
Benchmarks (1)
Protocols (6)
- Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
- Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets
- Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only
- Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only
- Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only
- Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled
Datasets (1)
Evaluations (570)
- 3Cnet: Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
- 3Cnet: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets
- 3Cnet: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only
- 3Cnet: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only
- 3Cnet: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only
- 3Cnet: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled
- AlphaMissense: Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
- AlphaMissense: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets
- AlphaMissense: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only
- AlphaMissense: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only
- AlphaMissense: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only
- AlphaMissense: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled
- AlphScore: Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
- AlphScore: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets
- AlphScore: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only
- AlphScore: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only
- AlphScore: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only
- AlphScore: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled
- BayesDel_noAF: Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
- BayesDel_noAF: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, all 36 DMS sets
- BayesDel_noAF: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, direct assays only
- BayesDel_noAF: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, indirect assays only
- BayesDel_noAF: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions only
- BayesDel_noAF: Livesey and Marsh 2025 DMS benchmark: pairwise |Spearman| win rate, SNV-accessible substitutions with gaps filled
- BayesDel: Livesey and Marsh 2025 clinical benchmark: pairwise AUROC win rate, ClinVar pathogenic versus gnomAD missense
Use cases (1)
Evidence
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Evidence table
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26 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.artifact_sha256 1b0d792d1a5d3daa95545a7973cabb131c45e42c952e7e5a447a72deef1d1e70 Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Doi 10.1186/s13059-025-03575-w Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Licence CC BY 4.0 (article licence; the workbook carries no separate licence) Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Limitations4 values
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Media type application/vnd.openxmlformats-officedocument.spreadsheetml.sheet Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Publication status peer_reviewed Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Retrieved at 2026-10-14T13:36:25Z Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.review.artifact_sha256 1b0d792d1a5d3daa95545a7973cabb131c45e42c952e7e5a447a72deef1d1e70 Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| Review: method note Re-downloaded from the recorded URL on 2026-10-14 and matched the SHA-256; URL, version, licence and limitations checked. Source metadata | Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Review method2 values
| Livesey and Marsh 2025, Supplementary Material 2 (Tables S1-S8) No field-specific location recorded Version: 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141 | catalogued No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
Excel workbook with the DMS dataset list, VEP list and types, full pairwise win-rate matrices and rank scores for the DMS and clinical benchmarks, bootstrap counts and sensitivity analyses.
1 source record and release history
- Livesey and Marsh 2025, Genome Biology 26:104 (Europe PMC full text XML) · Original source · PMC12016141 (published 2025-04-22; Genome Biol 26:104)
Technical metadata and extraction receipts
Stable ID: vep-lit-20261014-source-livesey2025-supplementary-2
- areas
- dna-genomes; proteins-complexes
- contexts
- research; clinical_research
- url
- https://static-content.springer.com/esm/art%3A10.1186%2Fs13059-025-03575-w/MediaObjects/13059_2025_3575_MOESM2_ESM.xlsx
- version
- 13059_2025_3575_MOESM2_ESM.xlsx as published with PMC12016141
- doi
- 10.1186/s13059-025-03575-w
- retrieved at
- 2026-10-14T13:36:25Z
- artifact sha256
- 1b0d792d1a5d3daa95545a7973cabb131c45e42c952e7e5a447a72deef1d1e70
- publication status
- peer_reviewed
- licence
- CC BY 4.0 (article licence; the workbook carries no separate licence)
- media type
- application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
- source locator
- Sheets 'Legends', 'Table S1' to 'Table S8', 'References'
- limitations
- All numeric cells use the General number format; values are stored at up to 17 significant digits and printed_value records the shortest round-trip decimal of each stored number.; Table S1 has no row 3 and leaves the fitness assay blank for TPK1, SUMO1, UBE2I and CASP7, so the direct and indirect assay groups cannot be counted from it.; Table S2 has 93 rows for 97 benchmarked VEPs: BayesDel, EVmutation, PolyPhen-2 and VARITY rows each cover two scored variants.; Table S8 prints 'CADD' and 'COSMIS', which have no row in Table S2, and 'CPT' and 'fathmm-XF' where Tables S2 and S3 print 'CPT-1' and 'Fathmm-XF'/'FathmmXF'.
- review
- reviewer: claude; reviewer note: Claude review agent; no human review claimed. Independent Claude (Opus 5.5) review agent, separate from the extraction agent that built this batch. Automated review only. Transcription, not reproduction.; reviewed at: 2026-10-14T15:30:00Z; artifact sha256: 1b0d792d1a5d3daa95545a7973cabb131c45e42c952e7e5a447a72deef1d1e70; retrieval url: https://static-content.springer.com/esm/art%3A10.1186%2Fs13059-025-03575-w/MediaObjects/13059_2025_3575_MOESM2_ESM.xlsx; method: source-hash-verification; ai-assisted-source-review; method note: Re-downloaded from the recorded URL on 2026-10-14 and matched the SHA-256; URL, version, licence and limitations checked.; note: Hash matches.