Dataset subset

TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)

TraitGym Mendelian OMIM non-coding variants matched 9:1 with gnomAD common variants, after removing positions overlapping AVI training or validation variants.

Evaluation results

16 evaluations · 16 results. Different protocols are not a single leaderboard.

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Exact evaluated configurations and original reported results
Tested configuration	Protocol and dataset	Finding	Evidence and details
Configuration: AVI six-model ensemble (AlphaGenome Atlas v1)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.764 AUPRC (AVI baseline row, TraitGym Mendelian column) unitless · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI AVI Model (Baseline) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Baseline', row 'AVI Model', column 'TraitGym Mendelian'
Configuration: AVI ablation 'All except AlphaGenome' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	-39% AUPRC relative difference (ablation 'All except AlphaGenome' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI All except AlphaGenome (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'All except AlphaGenome', column 'TraitGym Mendelian'
Configuration: AVI ablation 'AlphaGenome' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	-2.83% AUPRC relative difference (ablation 'AlphaGenome' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI AlphaGenome (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'AlphaGenome', column 'TraitGym Mendelian'
Configuration: AVI ablation 'AlphaMissense' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.75% AUPRC relative difference (ablation 'AlphaMissense' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI AlphaMissense (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'AlphaMissense', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Cactus' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	-16.5% AUPRC relative difference (ablation 'Cactus' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Cactus (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Cactus', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Consequence' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.26% AUPRC relative difference (ablation 'Consequence' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Consequence (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Consequence', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Conservation' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	-38% AUPRC relative difference (ablation 'Conservation' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Conservation (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Conservation', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Indel Type' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.69% AUPRC relative difference (ablation 'Indel Type' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Indel Type (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Indel Type', column 'TraitGym Mendelian'
Configuration: AVI ablation 'PhastCons' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	-0.93% AUPRC relative difference (ablation 'PhastCons' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI PhastCons (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'PhastCons', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Protein' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.77% AUPRC relative difference (ablation 'Protein' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Protein (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Protein', column 'TraitGym Mendelian'
Configuration: AVI ablation 'Splicing Removed Only' (Retrained, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.77% AUPRC relative difference (ablation 'Splicing Removed Only' (Retrained) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI Splicing Removed Only (Retrained) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Retrained', row 'Splicing Removed Only', column 'TraitGym Mendelian'
Configuration: AVI ablation '+ No Indel Type' (Features Set to Zero, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0% AUPRC relative difference (ablation '+ No Indel Type (second occurrence, below 'No AlphaMissense Indel Features')' (Features Set to Zero) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI + No Indel Type (Features Set to Zero) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Features Set to Zero', row '+ No Indel Type (second occurrence, below 'No AlphaMissense Indel Features')', column 'TraitGym Mendelian'
Configuration: AVI ablation 'No AlphaMissense Indel Features' (Features Set to Zero, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0% AUPRC relative difference (ablation 'No AlphaMissense Indel Features' (Features Set to Zero) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI No AlphaMissense Indel Features (Features Set to Zero) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Features Set to Zero', row 'No AlphaMissense Indel Features', column 'TraitGym Mendelian'
Configuration: AVI ablation '+ No Indel Type' (Features Set to Zero, AlphaGenome Atlas Table S2)	Protocol: AVI feature ablation, TraitGym Mendelian column, AUPRC (AlphaGenome Atlas Table S2) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0% AUPRC relative difference (ablation '+ No Indel Type' (Features Set to Zero) relative to the AVI baseline row, TraitGym Mendelian column) percent · higher Uncertainty: Not reported by the source Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source AVI + No Indel Type (Features Set to Zero) on TraitGym Mendelian (AlphaGenome Atlas Table S2) ag-atlas-20261019-protocol-table-s2-traitgym-mendelian Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Table S2 (page 70), section 'Features Set to Zero', row '+ No Indel Type', column 'TraitGym Mendelian'
Configuration: AVI six-model ensemble (AlphaGenome Atlas v1)	Protocol: TraitGym Mendelian non-coding variants, AUPRC after AVI filtering (AlphaGenome Atlas) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.76 AUPRC (TraitGym Mendelian non-coding) unitless · higher Uncertainty: Not reported by the source: Fig. 2B draws 95% bootstrap intervals (100 bootstraps) without printing them. Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source avi on TraitGym Mendelian non-coding (AlphaGenome Atlas Fig. 2B) ag-atlas-20261019-protocol-traitgym-mendelian-auprc Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Results 'State-of-the-art interpretable genome-wide variant prioritization with AVI' paragraph 1 (page 5), citing Fig. 2B: 'AVI ranked second to GPN-Star-M (AUPRC 0.76 vs. 0.77)'
Configuration: GPN-Star (M), mammalian, mutation-rate calibrated (AlphaGenome Atlas v1)	Protocol: TraitGym Mendelian non-coding variants, AUPRC after AVI filtering (AlphaGenome Atlas) Dataset subset: TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas)	0.77 AUPRC (TraitGym Mendelian non-coding) unitless · higher Uncertainty: Not reported by the source: Fig. 2B draws 95% bootstrap intervals (100 bootstraps) without printing them. Coverage: Not reported scored / Not reported eligible	Author-reported evaluation · Source checked Methods, coverage and source gpn-star-m on TraitGym Mendelian non-coding (AlphaGenome Atlas Fig. 2B) ag-atlas-20261019-protocol-traitgym-mendelian-auprc Aggregation: Not reported AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Results 'State-of-the-art interpretable genome-wide variant prioritization with AVI' paragraph 1 (page 5), citing Fig. 2B: 'AVI ranked second to GPN-Star-M (AUPRC 0.76 vs. 0.77)'

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7 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statement	Original source and location	Review and provenance
Original printed counts +308/-2228 Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.original_printed_counts` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Positive count 308 Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.positive_count` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Source location Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.source_locator` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Test count 2536 Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `attributes.test_count` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Description TraitGym Mendelian OMIM non-coding variants matched 9:1 with gnomAD common variants, after removing positions overlapping AVI training or validation variants. Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `description` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Relationship: same data as lit-genomics-20261011-traitgym-data-mendelian-traits-matched-9 Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `links:same_data_as:lit-genomics-20261011-traitgym-data-mendelian-traits-matched-9` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact
Name TraitGym Mendelian traits after AVI positional filtering (AlphaGenome Atlas) Context-only references	AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) Original source ↗ Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28) Version: medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages) Retrieved: 2026-10-19T12:19:03Z	not individually reviewed No individual claim review recorded Audit details Field: `name` Source artifact SHA-256: `b32d1539005ca4ea31c3dcef49b834424b1d8b5da4ce6b9fc3e1f942d39fc453` Hash scope: SHA-256 of one retrieval of the medRxiv PDF. A second retrieval at 2026-10-19T12:30:54Z had the same length (15,415,633 bytes) and the same SHA-256. Inspected artifact

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Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

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AlphaGenome Atlas: in silico mutagenesis of the entire human genome (Cheng, Taylor, Nicolaisen et al., medRxiv 2026) · Original source · medRxiv preprint version 1, posted 2026-09-20; full-text PDF with supplementary figures and tables (83 pages)

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Technical metadata and extraction receipts

Stable ID: ag-atlas-20261019-subset-traitgym-mendelian

areas: dna-genomes
contexts: research
positive count: 308
test count: 2536
original printed counts: +308/-2228
source locator: Fig. 2B panel header 'Non-coding Mendelian (TraitGym) (+308/-2228)'; Methods 'TraitGym Phenotypic Association' (page 28)

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