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Human splice-junction classification and count prediction (AlphaGenome paper)

Can sequence identify observed donor–acceptor junctions and predict their quantitative support?

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

2 evaluations · 4 metric rows

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 contextFiltered RNA-seq junctions on fold-1 held-out intervals; observed splice sites define candidate pairings.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
SplitHeld-out intervals of fold-1 evaluated with a model ensemble trained on fold-1 training data.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
Allowed inputs and adaptationPredicted junction counts; Splam comparison scores each pair using the smaller donor/acceptor probability.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
Metrics as reportedauPRC; pearsonrAlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
AggregationClassification: auPRC per tissue averaged across tissues. Quantitative endpoint: Pearson correlation of log-transformed counts; do not pool these two metric rows.AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
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 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9
Entity typeprotocol
OrganismsNot extracted or verified for this record.
AssaysNot extracted or verified for this record.
BaselinesNot extracted or verified for this record.

How it works

Human splice-junction classification and count prediction: evaluation procedure

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

Human splice-junction classification and count prediction: evaluation procedureConstruct candidate junction pairs. Then: Predict junction support. Then: Separate classification and nonzero-count endpoints. Then: Compute tissue metricsConstruct candidate junctionpairsPredict junction supportSeparate classification andnonzero-count endpointsCompute tissue metrics
Read the diagram as text
  1. Construct candidate junction pairs
  2. Predict junction support
  3. Separate classification and nonzero-count endpoints
  4. Compute tissue metrics
AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

What is tested

Can sequence identify observed donor–acceptor junctions and predict their quantitative support?

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

Procedure

For classification, contrast read-supported junctions with unobserved donor–acceptor pairs. For count prediction, correlate log(1+x)-transformed predicted and observed counts only on nonzero observed junctions.

AlphaGenome Nature 2026 supplementary comparison tables; AlphaGenome Nature 2026 supplementary methods; alphagenome: Journal full-text XML · 'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

Tested models and results

Release 2026-09-17-a757f4af4277 · 2 evaluations · 4 metric rows. Different protocols are not a single leaderboard.

Results grouped by the exact reported evaluation
Metric and findingCoverage and uncertaintyEvidence
Splam (paper Table 3): Human splice-junction classification and count prediction

For classification, contrast read-supported junctions with unobserved donor–acceptor pairs. For count prediction, correlate log(1+x)-transformed predicted and observed counts only on nonzero observed junctions.

Author-reported evaluation · Evaluation metadata: needs review

0.136 pearsonr

Unit: correlation · Direction: higher

Aggregation: Classification: auPRC per tissue averaged across tissues. Quantitative endpoint: Pearson correlation of log-transformed counts; do not pool these two metric rows.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!J8

Source checking is not independent reproduction.

0.507 auPRC

Unit: dimensionless · Direction: higher

Aggregation: Classification: auPRC per tissue averaged across tissues. Quantitative endpoint: Pearson correlation of log-transformed counts; do not pool these two metric rows.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!J9

Source checking is not independent reproduction.

AlphaGenome fold-1 ensemble, splice-junction head: Human splice-junction classification and count prediction

For classification, contrast read-supported junctions with unobserved donor–acceptor pairs. For count prediction, correlate log(1+x)-transformed predicted and observed counts only on nonzero observed junctions.

Author-reported evaluation · Evaluation metadata: needs review

0.82 pearsonr

Unit: correlation · Direction: higher

Aggregation: Classification: auPRC per tissue averaged across tissues. Quantitative endpoint: Pearson correlation of log-transformed counts; do not pool these two metric rows.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!K8

Source checking is not independent reproduction.

0.82 auPRC

Unit: dimensionless · Direction: higher

Aggregation: Classification: auPRC per tissue averaged across tissues. Quantitative endpoint: Pearson correlation of log-transformed counts; do not pool these two metric rows.

Uncertainty: unreported

Scored: Not reported · Eligible: Not reported

source checkedAlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!K9

Source checking is not independent reproduction.

Strengths and limitations

Strengths and considerations

No source-reviewed explanatory claims are recorded here yet.

Limitations and conditions

Profile review details

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

Stable record: alphagenome-2026-t3-protocol-4

Evidence table

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-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 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

["Construct candidate junction pairs","Predict junction support","Separate classification and nonzero-count endpoints","Compute tissue metrics"]

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

["Construct candidate junction pairs","Predict junction support","Separate classification and nonzero-count endpoints","Compute tissue metrics"]

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

["Construct candidate junction pairs","Predict junction support","Separate classification and nonzero-count endpoints","Compute tissue metrics"]

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

Human splice-junction classification and count prediction: evaluation procedure

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

Human splice-junction classification and count prediction: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary methods

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

Human splice-junction classification and count prediction: evaluation procedure

Individual claims
AlphaGenome Nature 2026 supplementary comparison tables

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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

Filtered RNA-seq junctions on fold-1 held-out intervals; observed splice sites define candidate pairings.

Individual claims
alphagenome: Journal full-text XML

Original source ↗

'Suppl Table 3 Track performance'!A8:N8; 'Suppl Table 3 Track performance'!A9:N9; Supplementary Methods p.23, Splice Junction Prediction; methods: p.23, Splice Junction Prediction; paper: Extended Data Fig.2b; tables: Suppl Table 3 Track performance; evaluation index 4; sheet rows 8, 9

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-a757f4af4277 · Record review: needs review

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Technical metadata and extraction receipts

Stable ID: alphagenome-2026-t3-protocol-4

areas
dna-genomes
entity level
protocol
version
Nature version of record, 28 January 2026
source evaluation index
4
source table
3
reference levels
metric: pearsonr; printed value: 0; numeric value: 0; source locator: Suppl Table 3 Track performance!H8; note: Source reference quantity for relative-performance calculation, not a measured baseline run.; metric: auPRC; printed value: 0.324; numeric value: 0.32400000000000001; source locator: Suppl Table 3 Track performance!H9; note: Source reference quantity for relative-performance calculation, not a measured baseline run.
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