MFASS prioritisation asks whether variant scores enrich for experimentally disrupted exon recognition.
Explanatory profile: source reviewed · 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 |
|---|---|
| Entity type | Task guide; concrete protocol identities remain separate.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Datasets | The linked rewire MFASS v2 protocol defines its reconciled eligible variants and fixed test cohort; this guide is not another dataset release.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Organisms | Human variants evaluated through the MFASS reporter assay; this is not a population-level clinical validation.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Assays | MFASS reporter-based exon-recognition measurements, using the labels and eligibility rules preserved by the v2 protocol.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Splits | Use the grouped split-v2 manifests in the pinned runner revision. Preserve the train/test assignment and exclusions.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Allowed inputs | Variant scores aligned to the MFASS reporter-assay labels; assay-oriented sequence pairs for the corrected local baseline.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Adaptation | The corrected baseline and frozen-encoder logistic pipeline fit the training arm; the specialist scorers retain their published configurations.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Metrics | Precision at 100, average precision and AUROC in the pinned v2 evaluation. Coverage and paired uncertainty belong beside each comparison.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
| Baselines | The v2 k-mer/position baseline is a trained comparator. SpliceAI, Pangolin and the frozen DNABERT-2 logistic pipeline retain their own input and fitting definitions.SourcesMFASS v2 pinned rewire artifacts · Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files |
Conceptual task guide. Dataset preparation, parameters and scoring must come from a separately identified protocol.
The corrected rewire v2 protocol validates assay-oriented reference and mutant pairs and uses a fixed grouped split. Its baseline window is placed around the validated variant position. This task guide links that concrete protocol without replacing its identity. Preserve specialist sequence context, missing predictions and the chosen review capacity when comparing methods.
This is a task guide, not a single versioned benchmark protocol. The connected resources provide examples or concrete procedures. A candidate method or proposed control is not evidence that an evaluation has been completed.
Benchmarks bring together tasks and protocols. A task describes the biological question; a protocol defines a particular test.
These source-backed links do not make different protocols or scores interchangeable.
Release 2026-09-17-d277315f7d76 · 4 evaluations · 12 metric rows. Different protocols are not a single leaderboard.
| Metric and finding | Coverage and uncertainty | Evidence |
|---|---|---|
| Corrected k-mer / position baseline on MFASS v2 Configuration: Corrected k-mer / position baselineProtocol: MFASS v2Dataset: MFASS v2 eligible assay cohort Assay-oriented 21 bp k-mer window, exon position, allele identity and conservation features; gradient-boosted trees trained on the MFASS training split. Rewire evaluation · Evaluation metadata: reproduced | ||
| 0.7779498064677238 auroc Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/baseline-kmer-position-v2.json :: auroc Source checking is not independent reproduction. |
| 0.28641674595892375 average_precision Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/baseline-kmer-position-v2.json :: average_precision Source checking is not independent reproduction. |
| 0.61 precision_at_100 Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/baseline-kmer-position-v2.json :: precision_at_100 Source checking is not independent reproduction. |
| DNABERT-2 117M · frozen pair embeddings on MFASS v2 Pipeline: DNABERT-2 117M · frozen pair embeddingsProtocol: MFASS v2Dataset: MFASS v2 eligible assay cohort Masked mean of frozen last hidden states for 170 bp reference and mutant sequences; concatenate reference and mutant-minus-reference embeddings; fixed balanced L2 logistic head trained only on the MFASS training split. Rewire evaluation · Evaluation metadata: reproduced | ||
| 0.5500324040216661 auroc Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: auroc Source checking is not independent reproduction. |
| 0.04508654312652131 average_precision Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: average_precision Source checking is not independent reproduction. |
| 0.03 precision_at_100 Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8324/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/dnabert2-117m-frozen-pair-logreg.json :: precision_at_100 Source checking is not independent reproduction. |
| Pangolin · mask=False on MFASS v2 Unchanged specialist run in genomic context with GENCODE v44; zero-shot on MFASS assay labels. Point metrics use the scored subset. Rewire evaluation · Evaluation metadata: reproduced | ||
| 0.8756851300560864 auroc Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8301/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: auroc Source checking is not independent reproduction. |
| 0.3887617543064248 average_precision Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8301/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: average_precision Source checking is not independent reproduction. |
| 0.65 precision_at_100 Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8301/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/pangolin-maskFalse.json :: precision_at_100 Source checking is not independent reproduction. |
| SpliceAI 1.3.1 on MFASS v2 Unchanged specialist run in genomic context with bundled annotation; zero-shot on MFASS assay labels. Point metrics use the scored subset. Rewire evaluation · Evaluation metadata: reproduced | ||
| 0.8055241740253153 auroc Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8194/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: auroc Source checking is not independent reproduction. |
| 0.2986855472760137 average_precision Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8194/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: average_precision Source checking is not independent reproduction. |
| 0.64 precision_at_100 Unit: fraction · Direction: higher | Uncertainty: Point estimate; see paired-comparison artifacts. Coverage (scored/eligible): 8194/8324 | reproducedMFASS v2 pinned rewire artifacts · benchmarks/mfass/results/spliceai-1.3.1.json :: precision_at_100 Source checking is not independent reproduction. |
Last literature check: 2026-09-17. Primary-source discovery and table/protocol screening; source checked is not independently reproduced. Raw acquisitions not automatically numerical publication approval.
| Paper or primary resource | Version | Reference |
|---|---|---|
| mfass original | PMC primary-source artifact, version pinned by SHA256 | Read source |
| A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions | Original published article | Read source DOI: 10.1016/j.molcel.2018.10.037 |
broad task primary raw retrieval blocked existing corrected run retained
Reviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol.
Stable record: catalog-task-mfass-spliceTrace 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.
17 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| Diagram caption Conceptual task guide. Dataset preparation, parameters and scoring must come from a separately identified protocol. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Diagram steps ["Validate assay-oriented sequence pairs","Apply the fixed grouped split","Score each declared method","Report prioritisation, ranking and coverage"] Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Diagram title Conceptual evaluation workflow Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Entity type Task guide; concrete protocol identities remain separate. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Datasets The linked rewire MFASS v2 protocol defines its reconciled eligible variants and fixed test cohort; this guide is not another dataset release. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Organisms Human variants evaluated through the MFASS reporter assay; this is not a population-level clinical validation. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Assays MFASS reporter-based exon-recognition measurements, using the labels and eligibility rules preserved by the v2 protocol. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Splits Use the grouped split-v2 manifests in the pinned runner revision. Preserve the train/test assignment and exclusions. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Allowed inputs Variant scores aligned to the MFASS reporter-assay labels; assay-oriented sequence pairs for the corrected local baseline. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
| Adaptation The corrected baseline and frozen-encoder logistic pipeline fit the training arm; the specialist scorers retain their published configurations. Individual claims | MFASS v2 pinned rewire artifacts Pinned MFASS v2 README: Correction, Dataset, Cohort reconciliation and Split; committed results files Version: bee9133b83f3aedaf2bbb9013f1875515845607e | source checked automated source review · 2026-09-16 Audit detailsReviewed named primary documentation and existing protocol records. Editorial task scope is distinguished from source-reported procedures. No model execution or new numerical result; a reviewed guide is not a complete runnable protocol. Field: Source artifact SHA-256: Hash scope: Local imported data/benchmark-runs/mfass-v2.json; not the upstream repository or result-file hash |
Release 2026-09-17-d277315f7d76 · Record review: discovered
Stable ID: catalog-task-mfass-splice