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Pipeline

AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier

AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier. This is the configuration evaluated in the Nature paper, not an identification of the current hosted API revision.

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

1 evaluation · 1 metric row

Underlying model: AlphaGenome. Results on this page belong to this pipeline and its evaluated settings.

At a glance

Key specifications have not been extracted for this record. See the linked evaluation and sources for the reported setup.

limited source coverage · Automated source review, 2026-09-17. All specifications and missing details

Evaluations and results

Release 2026-09-17-d277315f7d76 · 1 evaluation · 1 metric row. Different protocols are not a single leaderboard.

Results grouped by the exact reported evaluation
Metric and findingCoverage and uncertaintyEvidence
AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier: Supervised GTEx splicing-outlier prediction

Fit an Explainable Boosting Classifier on the training/validation data and evaluate the held-out variants.

Author-reported evaluation · Evaluation metadata: needs review

0.28 auprc

Unit: dimensionless · Direction: higher

Aggregation: Pooled auPRC across GTEx tissues after assigning positive variants their observed tissues and negatives tissues sampled to match the positive tissue distribution.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 4 Variant performan'!M7

Source checking is not independent reproduction.

How it works

Evaluated configuration

AlphaGenome distilled all-fold student variant features plus a supervised Explainable Boosting Classifier and a tissue splice-site expression indicator. Fit an Explainable Boosting Classifier on the training/validation data and evaluate the held-out variants.

Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

Strengths and limitations

Strengths and considerations

No source-reviewed explanatory claims are recorded here yet.

Profile review details

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

Stable record: alphagenome-2026-model-3de62f394fc1f299

Specifications

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.

Inputs, outputs and configuration
PropertyDescription and evidence
Evaluated systemAlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx
Checkpoint artifactNot established for these paper scores; no released checkpoint is inferred. · Needs further source review
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx
Evaluation scopeSupervised downstream pipeline
Sources (3)AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx
ComponentsNot extracted or verified for this record.
InputsNot extracted or verified for this record.
OutputsNot extracted or verified for this record.
AdaptationNot extracted or verified for this record.
ImplementationNot extracted or verified for this record.

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.

21 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
Evaluated system

AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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

Evaluated system

AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.facts.0.value

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Evaluated system

AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.facts.0.value

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

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

Format: xlsx

Inspected artifact

Checkpoint artifact

Not established for these paper scores; no released checkpoint is inferred.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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

unextracted

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.1.value

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Checkpoint artifact

Not established for these paper scores; no released checkpoint is inferred.

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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

unextracted

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.1.value

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Checkpoint artifact

Not established for these paper scores; no released checkpoint is inferred.

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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

unextracted

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.1.value

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

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

Format: xlsx

Inspected artifact

Evaluation scope

Supervised downstream pipeline

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.2.value

Source artifact SHA-256: d159b791fc6cb7b679c151727b7b05a6e5b6388b08a89b675014983d85b6df36

Hash scope: SHA-256 of retrieved original artifact bytes

Format: original_artifact

Inspected artifact

Evaluation scope

Supervised downstream pipeline

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.facts.2.value

Source artifact SHA-256: 86b2e6a07543e3c201e2e157a3e9c6eb5235ff13eb8a5224f6fcb6fe1808d4c0

Hash scope: SHA-256 of exact publisher PDF bytes

Format: original_pdf

Inspected artifact

Evaluation scope

Supervised downstream pipeline

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.facts.2.value

Source artifact SHA-256: 833cb78b6ae6fe39415cfff296ac00c48d800326139f13eb307531a1cc133154

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

Format: xlsx

Inspected artifact

Limitation

The publication result does not establish equivalence to another checkpoint or hosted service.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx

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.limitations.0.text

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-model-3de62f394fc1f299

areas
dna-genomes
entity level
method
configuration type
pipeline
version
AlphaGenome variant scores plus expressed-splice-site feature → Explainable Boosting Classifier
legacy kinds
model
entity classification
review date: 2026-09-17; rationale: This record identifies a composed analysis workflow with separately identifiable upstream models, representations or tools and a downstream prediction/scoring procedure. Results belong to that complete composition rather than to an upstream model alone.; source ids: source-alphagenome-nature2026-tables; source-alphagenome-nature2026-supplementary-methods; evidence-official-56e5abfb5f12f1cd3b20; source locator: 'Suppl Table 4 Variant performan'!A7:P7; Supplementary Methods p.30, Chromosome Splits for Variant Benchmarks; Supplementary Methods p.31, Splicing Outliers from GTEx; ambiguities: None recorded
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