Model type
Dilated convolutional splicing predictor
SpliceAI annotates sequence variants with predicted splice acceptor and donor changes.
Conceptual summary of the documented data flow; optional inputs and configured downstream stages must be reported for a reproducible evaluation.
Dilated convolutional splicing predictor
VCF variants, reference FASTA and matching gene annotation, or custom one-hot-encoded sequence.
Acceptor/donor gain/loss scores and positions in VCF INFO annotations.
Official project documentation and implementation: https://github.com/Illumina/SpliceAI
limited source coverage · Automated source review, 2026-09-16. All specifications and missing details
6 evaluations · 14 results. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: SpliceAI (paper Table 3) | Protocol: Human splice-site classification: RNA-derived (AlphaGenome paper) Dataset subset: Human splice-site classification: RNA-derived: evaluated data subset | 0.755 auPRC dimensionless · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSpliceAI (paper Table 3): Human splice-site classification: RNA-derived Compare probabilities with the selected binary splice-site labels at genomic positions. Aggregation: Compute auPRC separately for four strand/site classes and average the four values. AlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!J2 |
| Configuration: SpliceAI (paper Table 3) | Protocol: Human splice-site usage (AlphaGenome paper) Dataset subset: Human splice-site usage: evaluated data subset | 0.769 pearsonr correlation · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSpliceAI (paper Table 3): Human splice-site usage Correlate predicted and measured usage over held-out splice-site positions for each tissue track. Aggregation: Per-tissue Pearson correlation; the table provides an aggregate scalar but this task paragraph does not explicitly define its cross-tissue weighting. AlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!J7 |
| Configuration: SpliceAI (paper Table 3) | Protocol: Human splice-site classification: annotation-derived (AlphaGenome paper) Dataset subset: Human splice-site classification: annotation-derived: evaluated data subset | 0.815 auPRC dimensionless · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceSpliceAI (paper Table 3): Human splice-site classification: annotation-derived Compare probabilities with the selected binary splice-site labels at genomic positions. Aggregation: Compute auPRC separately for four strand/site classes and average the four values. AlphaGenome Nature 2026 supplementary comparison tables · 'Suppl Table 3 Track performance'!J4 |
| Configuration: SpliceAI 1.3.1 · mask 0 (S0) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.804 AUROC dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 0 (S0) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S0.metrics.auroc |
| Configuration: SpliceAI 1.3.1 · mask 0 (S0) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.295 Average precision dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 0 (S0) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S0.metrics.average_precision_sklearn |
| Configuration: SpliceAI 1.3.1 · mask 0 (S0) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.63 Precision at 100 dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 0 (S0) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S0.metrics.precision_at_capacity |
| Configuration: SpliceAI 1.3.1 · mask 0 (S0) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.201 Recall at 100 dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 0 (S0) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S0.metrics.recall_at_capacity |
| Configuration: SpliceAI 1.3.1 · mask 1 (S1) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.815 AUROC dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 1 (S1) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S1.metrics.auroc |
| Configuration: SpliceAI 1.3.1 · mask 1 (S1) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.313 Average precision dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 1 (S1) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S1.metrics.average_precision_sklearn |
| Configuration: SpliceAI 1.3.1 · mask 1 (S1) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.65 Precision at 100 dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 1 (S1) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S1.metrics.precision_at_capacity |
| Configuration: SpliceAI 1.3.1 · mask 1 (S1) | Protocol: MFASS: matched GENCODE 44 canonical annotation Dataset subset: MFASS v2 test: matched canonical annotation coverage | 0.207 Recall at 100 dimensionless · higher Uncertainty: Not reported Coverage: 8297/8324 | Rewire evaluation · Source checkedMethods, coverage and sourceSpliceAI 1.3.1 · mask 1 (S1) on MFASS matched annotation MFASS matched GENCODE 44 canonical annotation Aggregation: Not reported MFASS matched canonical annotation v1: report.json; MFASS matched canonical annotation v1: manifest-v1.json; MFASS matched canonical annotation v1: verification.json; MFASS matched canonical annotation v1: provenance.json; MFASS matched canonical annotation v1: exclusion-verification.json · report.json: conditions.S1.metrics.recall_at_capacity |
| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.806 auroc fraction · higher Uncertainty: Not reported Coverage: 8194/8324 | Rewire evaluation · Independently reproducedMethods, coverage and sourceUnchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: auroc |
| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.299 average_precision fraction · higher Uncertainty: Not reported Coverage: 8194/8324 | Rewire evaluation · Independently reproducedMethods, coverage and sourceUnchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: average_precision |
| Configuration: SpliceAI 1.3.1 | Protocol: MFASS v2 Dataset: MFASS v2 eligible assay cohort | 0.64 precision_at_100 fraction · higher Uncertainty: Not reported Coverage: 8194/8324 | Rewire evaluation · Independently reproducedMethods, coverage and sourceUnchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Aggregation: Not reported MFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: precision_at_100 |
Source checking is not independent reproduction. Release 2026-09-29-06401fd5b220.
Related profile: SpliceAI. This page retains the exact record and its evaluation context.
SpliceAI reads one-hot-encoded DNA through dilated convolutional residual blocks. Skip connections combine features at different depths, and a softmax layer assigns acceptor, donor or neither probabilities to the central positions. The 10kb version requires 5kb of sequence on each side of a scored position; variant scoring compares the reference and alternate predictions.
The paper studies 80nt, 400nt, 2kb and 10kb receptive spans. Variant scoring averages five independently trained models; these are not five different assay results. SpliceAI-10k uses 5,000 flanking bases on each side. An input of length l + 10,000 produces predictions for l central positions; receptive span is distinct from maximum input length.
Inspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied.
Stable record: catalog-model-spliceaiExplanatory profile: limited source coverage · Automated source review, 2026-09-16. Review applies to the cited claims; unresolved fields are listed below. Numerical results retain their own review status.
| Property | Description and evidence |
|---|---|
| Model type | Dilated convolutional splicing predictorSources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Architecture | Residual one-dimensional convolutional network with dilated kernels and skip connections; a softmax head predicts acceptor, donor and neither at each central position.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Inputs | VCF variants, reference FASTA and matching gene annotation, or custom one-hot-encoded sequence.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Outputs | Acceptor/donor gain/loss scores and positions in VCF INFO annotations.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Parameters | The original STAR Methods specifies residual blocks, dilation and receptive spans, but does not state a complete parameter count for each released five-model scoring ensemble. · Not reported in inspected sourcesSources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Known versions | The paper studies 80nt, 400nt, 2kb and 10kb receptive spans. Variant scoring averages five independently trained models; these are not five different assay results.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Training data | Human GRCh37 sequence and GENCODE V24lift37 principal protein-coding transcripts, split by chromosome with non-paralogous held-out test genes. The paper distinguishes GENCODE-only training from GTEx-junction-augmented models used for variant analyses.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Training cutoff | GENCODE V24lift37 on GRCh37 defines the documented transcript annotations. GTEx-augmented training is separately described; the paper does not give one common latest-data date for both variants.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Context limits | SpliceAI-10k uses 5,000 flanking bases on each side. An input of length l + 10,000 produces predictions for l central positions; receptive span is distinct from maximum input length.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Weights licence | CC-BY-NC-4.0 for trained models; commercial use requires a separate licence. Code is PolyForm Strict 1.0.0.Sources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Access | Official project documentation and implementation: https://github.com/Illumina/SpliceAISources (2)Illumina/SpliceAI: README.md; spliceai: Primary paper PDF · Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License |
| Code licence | PolyForm Strict 1.0.0 for code; trained weights have separate terms.SourcesIllumina/SpliceAI: LICENSE · LICENSE: licence text |
Source checking verifies the cited claim or transcription. It does not establish independent reproduction.
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.
41 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Diagram caption Conceptual summary of the documented data flow; optional inputs and configured downstream stages must be reported for a reproducible evaluation. Individual claims | Illumina/SpliceAI: README.md Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 03f42437aaf56dc5dfd822c4ccee5aec1a705079 | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Diagram caption Conceptual summary of the documented data flow; optional inputs and configured downstream stages must be reported for a reproducible evaluation. Individual claims | spliceai: Primary paper PDF Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Cell 2019 published article PDF, university-hosted copy | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
Diagram steps
| Illumina/SpliceAI: README.md Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 03f42437aaf56dc5dfd822c4ccee5aec1a705079 | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
Diagram steps
| spliceai: Primary paper PDF Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Cell 2019 published article PDF, university-hosted copy | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Diagram title SpliceAI workflow Individual claims | Illumina/SpliceAI: README.md Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 03f42437aaf56dc5dfd822c4ccee5aec1a705079 | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Diagram title SpliceAI workflow Individual claims | spliceai: Primary paper PDF Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Cell 2019 published article PDF, university-hosted copy | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Model type Dilated convolutional splicing predictor Individual claims | Illumina/SpliceAI: README.md Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 03f42437aaf56dc5dfd822c4ccee5aec1a705079 | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Model type Dilated convolutional splicing predictor Individual claims | spliceai: Primary paper PDF Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Cell 2019 published article PDF, university-hosted copy | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Architecture Residual one-dimensional convolutional network with dilated kernels and skip connections; a softmax head predicts acceptor, donor and neither at each central position. Individual claims | Illumina/SpliceAI: README.md Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: 03f42437aaf56dc5dfd822c4ccee5aec1a705079 | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
| Architecture Residual one-dimensional convolutional network with dilated kernels and skip connections; a softmax head predicts acceptor, donor and neither at each central position. Individual claims | spliceai: Primary paper PDF Jaganathan et al., Cell 2019, STAR Methods: SpliceAI architecture and Model training and testing (pp. e2–e3); README.md: usage and License Shared locator for this statement’s cited sources; not a separate locator for each citation. Version: Cell 2019 published article PDF, university-hosted copy | source checked automated source review · 2026-09-16 Audit detailsInspected pinned official documentation, relevant implementation files and named primary-paper sections. Claims are limited to those artifacts. Remaining field extraction and identity conflicts are explicit; no new performance claims, model runs or human review are implied. Field: Source artifact SHA-256: Hash scope: SHA-256 of retrieved original artifact bytes Format: original_artifact |
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Stable ID: catalog-model-spliceai