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Protocol

Splice-site-region variants splicing-based classification (AlphaGenome paper)

Can splicing-effect predictions distinguish pathogenic from benign variants in this consequence category?

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

2 evaluations · 2 metric rows

At a glance

Inputs, training, access and other details

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 contextClinVar GRCh38 release 2025-03-23. ClinVar intronic/synonymous/missense variants near splice sites, using the paper’s exonic/intronic distance definitions.
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
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.
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
Allowed inputs and adaptationREF/ALT sequence, gene annotations and composite splice-site/site-usage/junction scores; the table uses maximum absolute track aggregation.
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
Metrics as reportedauprc_max_abs_track_aggregation
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
AggregationauPRC in the category, retaining its own class prevalence and sampling scheme.
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
UncertaintyNot reported for these summary-table scores. · Not reported in inspected sources
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
OrganismsNot extracted or verified for this record.
AssaysNot extracted or verified for this record.
BaselinesNot extracted or verified for this record.

How it works

How it worksSplice-site-region variants splicing-based classification: evaluation procedure
Splice-site-region variants splicing-based classification: evaluation procedure1. Select labelled ClinVar category. Then: 2. Apply held-out chromosome split. Then: 3. Compute composite splicing score. Then: 4. Evaluate category auPRCSplice-site-region variants splicing-based classification: evaluation procedure1. Select labelled ClinVar category. Then: 2. Apply held-out chromosome split. Then: 3. Compute composite splicing score. Then: 4. Evaluate category auPRCSplice-site-region variants splicing-based classification: evaluation procedure1. Select labelled ClinVar category. Then: 2. Apply held-out chromosome split. Then: 3. Compute composite splicing score. Then: 4. Evaluate category auPRC

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

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
What is tested

Can splicing-effect predictions distinguish pathogenic from benign variants in this consequence category?

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
Procedure

Score each variant from its predicted splicing changes and compare with the selected ClinVar pathogenicity labels.

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

Recorded evaluations

Each evaluation records what was tested and under which conditions.

Published comparisons

Explore the results reported under one evaluation protocol. Each figure keeps its source, dataset and metric together; it is not a ranking across studies.

Splice-site-region variants splicing-based classification (AlphaGenome paper)

auprc_max_abs_track_aggregation (dimensionless) · Higher values are better for this metric.

Can splicing-effect predictions distinguish pathogenic from benign variants in this consequence category?

Evaluation protocol · Splice-site-region variants splicing-based classification: evaluated data subset

Source order is preserved. Plotted marks show point estimates; uncertainty, where reported, is retained in the printed values and table. Differences do not establish statistical significance.

AlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!M4; 'Suppl Table 4 Variant performan'!L4
Values, uncertainty and evidence
auprc_max_abs_track_aggregation: original source values
Tested entityPrinted valueUncertaintyEvidence
AlphaGenome distilled all-fold student · Configuration0.57 dimensionlessNot reportedAuthor-reported evaluation · source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!M4
Pangolin (paper Table 4) · Configuration0.553822 dimensionlessNot reportedAuthor-reported evaluation · source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!L4
Scope and limitations
  • This is the AlphaGenome paper’s comparison. Source-checked scores are not independent reproductions.
  • Model inputs, training and inference budgets differ or remain partly unextracted. This figure does not establish a controlled architectural advantage.
  • Superseded and quarantined score conflicts are excluded; comparator-specific subsets remain separate.

Source transcription and grouping reviewed by automated source review on 2026-09-17. These experiments were not independently reproduced by rewire.

Tested entities and results

Release 2026-09-17-d277315f7d76 · 2 evaluations · 2 metric rows. Different protocols are not a single leaderboard.

Results grouped by the exact reported evaluation
Metric and findingCoverage and uncertaintyEvidence
AlphaGenome distilled all-fold student: Splice-site-region variants splicing-based classification

Score each variant from its predicted splicing changes and compare with the selected ClinVar pathogenicity labels.

Author-reported evaluation · Evaluation metadata: needs review

0.57 auprc_max_abs_track_aggregation

Unit: dimensionless · Direction: higher

Aggregation: auPRC in the category, retaining its own class prevalence and sampling scheme.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!M4

Source checking is not independent reproduction.

Pangolin (paper Table 4): Splice-site-region variants splicing-based classification

Score each variant from its predicted splicing changes and compare with the selected ClinVar pathogenicity labels.

Author-reported evaluation · Evaluation metadata: needs review

0.553822 auprc_max_abs_track_aggregation

Unit: dimensionless · Direction: higher

Aggregation: auPRC in the category, retaining its own class prevalence and sampling scheme.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!L4

Source checking is not independent reproduction.

Papers and result coverage

Last literature check: 2026-09-17. Original Nature paper comparison; numerical source transcription was separately reviewed. No independent model execution.

Paper or primary resourceVersionReference
alphagenome: Journal full-text XMLRetrieved page snapshot; no immutable publisher revision suppliedRead source
AlphaGenome Nature 2026 supplementary comparison tablesNature version of record, 28 January 2026Read source
DOI: 10.1038/s41586-025-10014-0
AlphaGenome Nature 2026 supplementary methodsSupplement to Nature version of record, 28 January 2026; content hash pinnedRead source

What is still missing

  • Individual protocol input manifests, scoring counts and uncertainty remain unextracted where explicitly marked.
  • Subsequent studies use different datasets and are not pooled with this paper.
Search and extraction details

complete comparison extracted

Searches

  • AlphaGenome benchmark evaluation Nature 2026 supplementary Tables 3 4 regulatory variant prediction
  • AlphaGenome independent evaluation benchmark 2026 variant effects

Evidence locations

  • 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

Strengths and limitations

Strengths and considerations

No source-reviewed explanatory claims are recorded here yet.

Limitations and conditions

  • ClinVar pathogenicity is not an experimentally isolated splicing label. Boundary text differs in strict/inclusive wording between methods and Fig3h; use the released category labels rather than inventing edge-case membership.
    Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
  • This is an author-reported protocol, not a rewire rerun. Different datasets, processing and adaptations cannot support an unrestricted leaderboard.
    Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4
Profile review details

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

Stable record: alphagenome-2026-t4-protocol-3

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.

42 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-09-17-d277315f7d76
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'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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

Format: original_artifact

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'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.

Field: attributes.profile.diagram.caption

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

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

Format: xlsx

Inspected artifact

Diagram steps

["Select labelled ClinVar category","Apply held-out chromosome split","Compute composite splicing score","Evaluate category auPRC"]

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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 labelled ClinVar category","Apply held-out chromosome split","Compute composite splicing score","Evaluate category auPRC"]

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.steps

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Diagram steps

["Select labelled ClinVar category","Apply held-out chromosome split","Compute composite splicing score","Evaluate category auPRC"]

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.

Field: attributes.profile.diagram.steps

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

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

Format: xlsx

Inspected artifact

Diagram title

Splice-site-region variants splicing-based classification: evaluation procedure

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.title

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Diagram title

Splice-site-region variants splicing-based classification: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.title

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Diagram title

Splice-site-region variants splicing-based classification: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.

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

ClinVar GRCh38 release 2025-03-23. ClinVar intronic/synonymous/missense variants near splice sites, using the paper’s exonic/intronic distance definitions.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4

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.facts.0.value

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Sources and history

Release 2026-09-17-d277315f7d76 · Record review: needs review

3 source records and release historyDownload this release
Technical metadata and extraction receipts

Stable ID: alphagenome-2026-t4-protocol-3

areas
dna-genomes
entity level
protocol
version
Nature version of record, 28 January 2026
source evaluation index
3
source table
4
reference levels
metric: auprc_max_abs_track_aggregation; printed value: 0.115065; numeric value: 0.115065; source locator: Suppl Table 4 Variant performan!J4; note: Source reference quantity for relative-performance calculation, not a measured baseline run.
comparison panels
id: paper-figure-b00e43853057e7ee69; title: Splice-site-region variants splicing-based classification (AlphaGenome paper); protocol id: alphagenome-2026-t4-protocol-3; dataset id: alphagenome-2026-t4-dataset-3; metric: auprc_max_abs_track_aggregation; unit: dimensionless; direction: higher; result ids: alphagenome-2026-result-43f024b35202302b; alphagenome-2026-result-fd37293d0a57ecab; source ids: source-alphagenome-nature2026-tables; source locator: 'Suppl Table 4 Variant performan'!M4; 'Suppl Table 4 Variant performan'!L4; context: Can splicing-effect predictions distinguish pathogenic from benign variants in this consequence category?; caveats: This is the AlphaGenome paper’s comparison. Source-checked scores are not independent reproductions.; Model inputs, training and inference budgets differ or remain partly unextracted. This figure does not establish a controlled architectural advantage.; Superseded and quarantined score conflicts are excluded; comparator-specific subsets remain separate.; review: method: automated_source_review; date: 2026-09-17
benchmark research
review date: 2026-09-17; status: complete_comparison_extracted; primary sources: evidence-official-56e5abfb5f12f1cd3b20; source-alphagenome-nature2026-tables; source-alphagenome-nature2026-supplementary-methods; inspected locators: 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4; searched queries: AlphaGenome benchmark evaluation Nature 2026 supplementary Tables 3 4 regulatory variant prediction; AlphaGenome independent evaluation benchmark 2026 variant effects; gaps: Individual protocol input manifests, scoring counts and uncertainty remain unextracted where explicitly marked.; Subsequent studies use different datasets and are not pooled with this paper.; claim scope: Original Nature paper comparison; numerical source transcription was separately reviewed. No independent model execution.
legacy kinds
benchmark
entity classification
review date: 2026-09-17; rationale: The source-backed record identifies a specified evaluated procedure and its dataset/split/scoring context. Classify it as a protocol while preserving version and comparison restrictions.; source ids: source-alphagenome-nature2026-tables; source-alphagenome-nature2026-supplementary-methods; evidence-official-56e5abfb5f12f1cd3b20; source locator: 'Suppl Table 4 Variant performan'!A4:P4; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods pp.30–31, ClinVar Variants; methods: pp.30–31, ClinVar Variants; paper: Fig.3h; methods: p.30, Chromosome Splits for Variant Benchmarks; paper: Fig.1e; tables: Suppl Table 4 Variant performan; evaluation index 3; sheet rows 4; ambiguities: None recorded
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