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benchmark · protocol

eQTL effect-size ranking (AlphaGenome paper)

Can sequence-derived expression changes predict the ranking and sign of measured eQTL effects?

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

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At a glance

Explanatory profile: limited source coverage · Automated source review, 2026-09-17. Review applies to the cited claims; unresolved fields are listed below. Numerical results retain their own review status.

Data, procedure and scoring
PropertyDescription and evidence
Dataset and biological contextGTExv8 SuSiE fine-mapped SNP eQTLs with PIP≥0.9; target-gene/tissue pairs.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
SplitZero-shot scorer development uses validation chromosomes 1,2,4,5,7,8,10,11,13,14,15,17,20,22,X; final test chromosomes are 3,6,9,12,16,18,19,21. This partitions variant evaluation labels; the distilled model’s teachers were trained on all reference-genome folds.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
Allowed inputs and adaptationGene-specific RNA-seq scores respecting the dataset’s REF/ALT orientation even when its REF differs from the reference genome; matched GTEx tissue.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
Metrics as reportedtissue_weighted_mean_spearmanrAlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
AggregationTissue-count-weighted mean Spearman correlation.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
UncertaintyNot reported for these summary-table scores. · Not reported in inspected sourcesAlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
Entity typeprotocol
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How it works

eQTL effect-size ranking: evaluation procedure

Conceptual summary of the cited procedure; model-specific conditions are given below.

eQTL effect-size ranking: evaluation procedureSelect fine-mapped test eQTLs. Then: Match allele orientation, gene and tissue. Then: Predict RNA fold changes. Then: Aggregate effect-size rank correlationSelect fine-mapped test eQTLsMatch allele orientation, geneand tissuePredict RNA fold changesAggregate effect-size rankcorrelation
Read the diagram as text
  1. Select fine-mapped test eQTLs
  2. Match allele orientation, gene and tissue
  3. Predict RNA fold changes
  4. Aggregate effect-size rank correlation
AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

What is tested

Can sequence-derived expression changes predict the ranking and sign of measured eQTL effects?

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Procedure

Compare signed predicted scores against SuSiE beta posterior ranks in each GTEx tissue.

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Tested models and results

Release 2026-09-17-a757f4af4277 · 0 evaluations · 0 metric rows. Different protocols are not a single leaderboard.

No evaluations linked in this release.

Strengths and limitations

Strengths and considerations

No source-reviewed explanatory claims are recorded here yet.

Limitations and conditions

  • These endpoints condition on fine-mapped causal variants; they do not measure discrimination of causal versus noncausal variants. Current repository notebook output is a separate versioned artifact and must not silently replace the workbook result.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
  • This is an author-reported protocol, not a rewire rerun. Different datasets, processing and adaptations cannot support an unrestricted leaderboard.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
  • Primary artifact values differ and their evaluation equivalence is unresolved. The affected comparison is withheld from published result tables.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15
Profile review details

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Stable record: alphagenome-2026-t4-protocol-13

Evidence table

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45 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-17-a757f4af4277
Property and statementOriginal source and locationReview and provenance
Diagram caption

Conceptual summary of the cited procedure; model-specific conditions are given below.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T19:53:03.009088+00:00

source checked

automated source review · 2026-09-17

Audit details

Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.diagram.caption

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

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Inspected artifact

Diagram caption

Conceptual summary of the cited procedure; model-specific conditions are given below.

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplement to Nature version of record, 28 January 2026; content hash pinned
Retrieved: 2026-09-17T06:37:01.778972+00:00

source checked

automated source review · 2026-09-17

Audit details

Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.diagram.caption

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Diagram caption

Conceptual summary of the cited procedure; model-specific conditions are given below.

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature version of record, 28 January 2026
Retrieved: 2026-09-17T06:31:06.887921+00:00

source checked

automated source review · 2026-09-17

Audit details

Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

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Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

Hash scope: SHA-256 of exact retrieved original artifact bytes

Format: xlsx

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Diagram steps

["Select fine-mapped test eQTLs","Match allele orientation, gene and tissue","Predict RNA fold changes","Aggregate effect-size rank correlation"]

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T19:53:03.009088+00:00

source checked

automated source review · 2026-09-17

Audit details

Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.diagram.steps

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Diagram steps

["Select fine-mapped test eQTLs","Match allele orientation, gene and tissue","Predict RNA fold changes","Aggregate effect-size rank correlation"]

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplement to Nature version of record, 28 January 2026; content hash pinned
Retrieved: 2026-09-17T06:37:01.778972+00:00

source checked

automated source review · 2026-09-17

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Field: attributes.profile.diagram.steps

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Diagram steps

["Select fine-mapped test eQTLs","Match allele orientation, gene and tissue","Predict RNA fold changes","Aggregate effect-size rank correlation"]

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature version of record, 28 January 2026
Retrieved: 2026-09-17T06:31:06.887921+00:00

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automated source review · 2026-09-17

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Hash scope: SHA-256 of exact retrieved original artifact bytes

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eQTL effect-size ranking: evaluation procedure

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

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Retrieved: 2026-09-16T19:53:03.009088+00:00

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automated source review · 2026-09-17

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Inspected artifact

Diagram title

eQTL effect-size ranking: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Supplement to Nature version of record, 28 January 2026; content hash pinned
Retrieved: 2026-09-17T06:37:01.778972+00:00

source checked

automated source review · 2026-09-17

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Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.diagram.title

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Diagram title

eQTL effect-size ranking: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Nature version of record, 28 January 2026
Retrieved: 2026-09-17T06:31:06.887921+00:00

source checked

automated source review · 2026-09-17

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Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.diagram.title

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

Hash scope: SHA-256 of exact retrieved original artifact bytes

Format: xlsx

Inspected artifact

Dataset and biological context

GTExv8 SuSiE fine-mapped SNP eQTLs with PIP≥0.9; target-gene/tissue pairs.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A15:P15; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.32–33, eQTL effect size and sign; methods: pp.32–33, Expression Quantitative Trait Loci (eQTL) Variants; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 13; sheet rows 15

Shared locator for this statement’s cited sources; not a separate locator for each citation.

Version: Retrieved page snapshot; no immutable publisher revision supplied
Retrieved: 2026-09-16T19:53:03.009088+00:00

source checked

automated source review · 2026-09-17

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Primary-source transcription and separate automated source review. No human sign-off or independent experimental reproduction.

Field: attributes.profile.facts.0.value

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

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Sources and history

Release 2026-09-17-a757f4af4277 · Record review: needs review

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Technical metadata and extraction receipts

Stable ID: alphagenome-2026-t4-protocol-13

areas
dna-genomes
entity level
protocol
version
Nature version of record, 28 January 2026
source evaluation index
13
source table
4
reference levels
metric: tissue_weighted_mean_spearmanr; printed value: 0; numeric value: 0; source locator: Suppl Table 4 Variant performan!J15; note: Source reference quantity for relative-performance calculation, not a measured baseline run.
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