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Configuration

Sei, output tracks* (pathogenic/common SNP classification)

Sei, output tracks (pathogenic/common SNP classification): Sei, output tracks* (pathogenic/common SNP classification); Actual DNA input consumed by the model: 4096 bp (a crop of the dataset's generated window where smaller); Alternate-minus-reference frozen representation.

2 evaluations · 5 results

Overview

An explanatory profile has not yet been reviewed for this record.

Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.

Evaluations and results

2 evaluations · 5 results. Different protocols are not a single leaderboard.

Protocol: Feng pathogenic-versus-common SNP classification · Dataset: Feng pathogenic/common SNP short-window dataset

Sorted by AUROC (task: pathogenic vs common snp; outer test group 1 only (chromosomes 3, 6, 9, 12, 16, 18, 19, 21), not averaged) (higher is better). The best value in each column is highlighted. Decimals are rounded for display; each value links to the printed value and its source.

Tested configurationAUROC (task: pathogenic vs common snp; outer test group 1 only (chromosomes 3, 6, 9, 12, 16, 18, 19, 21), not averaged)AUROC (task: pathogenic vs common snp; outer test group 2 only (chromosomes 2, 5, 11, 14, 17, 20, 22, X), not averaged)AUROC (task: pathogenic vs common snp; outer test group 3 only (chromosomes 1, 4, 7, 8, 10, 13, 15), not averaged)AUROC (task: pathogenic vs common snp)Cohen's d (task: pathogenic vs common snp)
Sei, output tracks* (pathogenic/common SNP classification)Evaluation0.6750.6490.667Not reportedNot reported
Sei, output tracks* (pathogenic/common SNP classification)EvaluationNot reportedNot reportedNot reported0.6640.605
All 5 result rows with coverage, uncertainty and sources
Filter evaluations

Applied filters: All linked evaluations

Exact evaluated configurations and original reported results
Tested configurationProtocol and datasetFindingEvidence and details
Configuration: Sei, output tracks* (pathogenic/common SNP classification)Protocol: Feng pathogenic-versus-common SNP classification
Dataset: Feng pathogenic/common SNP short-window dataset
0.664 AUROC (task: pathogenic vs common snp)
unitless · higher

Uncertainty: Not yet extracted

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Sei, output tracks* pathogenic/common SNP evaluation

Table 5, frozen embeddings + random forest classifier

Aggregation: Not reported

Benchmarking DNA foundation models for genomic and genetic tasks · Table 5, Sei, output tracks* row, AUC column (deterministic XML extraction)
Configuration: Sei, output tracks* (pathogenic/common SNP classification)Protocol: Feng pathogenic-versus-common SNP classification
Dataset: Feng pathogenic/common SNP short-window dataset
0.605 Cohen's d (task: pathogenic vs common snp)
unitless · unknown

Uncertainty: Not yet extracted

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Sei, output tracks* pathogenic/common SNP evaluation

Table 5, frozen embeddings + random forest classifier

Aggregation: Not reported

Benchmarking DNA foundation models for genomic and genetic tasks · Table 5, Sei, output tracks* row, Cohen's d column (deterministic XML extraction). Signed effect size; the source does not state a universal desirable sign/direction, so direction is recorded as unknown rather than assumed higher-is-better.
Configuration: Sei, output tracks* (pathogenic/common SNP classification)Protocol: Feng pathogenic-versus-common SNP classification
Dataset: Feng pathogenic/common SNP short-window dataset
0.675 AUROC (task: pathogenic vs common snp; outer test group 1 only (chromosomes 3, 6, 9, 12, 16, 18, 19, 21), not averaged)
unitless · higher

Uncertainty: Not reported by the source: Supplementary Data 4 prints one AUC per test group, with no interval.

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Sei, output tracks Pathogenic variants vs common per-test-group evaluation

Table 5 set-up, AUC reported separately for each outer chromosome test group (Supplementary Data 4); frozen embeddings + random forest classifier

Aggregation: Not reported

Benchmarking DNA foundation models for genomic and genetic tasks: Supplementary Data 1-6 · Supplementary Data 4 (workbook sheet 'Data 4'), block 'Pathogenic variants vs common', row 'Sei, output tracks', column 'Test Group 1 AUC' (cell B13). Test group 1 is chromosomes 3, 6, 9, 12, 16, 18, 19, 21 (Methods, 'Variant effect quantification benchmark').
Configuration: Sei, output tracks* (pathogenic/common SNP classification)Protocol: Feng pathogenic-versus-common SNP classification
Dataset: Feng pathogenic/common SNP short-window dataset
0.649 AUROC (task: pathogenic vs common snp; outer test group 2 only (chromosomes 2, 5, 11, 14, 17, 20, 22, X), not averaged)
unitless · higher

Uncertainty: Not reported by the source: Supplementary Data 4 prints one AUC per test group, with no interval.

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Sei, output tracks Pathogenic variants vs common per-test-group evaluation

Table 5 set-up, AUC reported separately for each outer chromosome test group (Supplementary Data 4); frozen embeddings + random forest classifier

Aggregation: Not reported

Benchmarking DNA foundation models for genomic and genetic tasks: Supplementary Data 1-6 · Supplementary Data 4 (workbook sheet 'Data 4'), block 'Pathogenic variants vs common', row 'Sei, output tracks', column 'Test Group 2 AUC' (cell C13). Test group 2 is chromosomes 2, 5, 11, 14, 17, 20, 22, X (Methods, 'Variant effect quantification benchmark').
Configuration: Sei, output tracks* (pathogenic/common SNP classification)Protocol: Feng pathogenic-versus-common SNP classification
Dataset: Feng pathogenic/common SNP short-window dataset
0.667 AUROC (task: pathogenic vs common snp; outer test group 3 only (chromosomes 1, 4, 7, 8, 10, 13, 15), not averaged)
unitless · higher

Uncertainty: Not reported by the source: Supplementary Data 4 prints one AUC per test group, with no interval.

Coverage: Not reported scored / Not reported eligible

Independent external evaluation · Source checked
Methods, coverage and source

Sei, output tracks Pathogenic variants vs common per-test-group evaluation

Table 5 set-up, AUC reported separately for each outer chromosome test group (Supplementary Data 4); frozen embeddings + random forest classifier

Aggregation: Not reported

Benchmarking DNA foundation models for genomic and genetic tasks: Supplementary Data 1-6 · Supplementary Data 4 (workbook sheet 'Data 4'), block 'Pathogenic variants vs common', row 'Sei, output tracks', column 'Test Group 3 AUC' (cell D13). Test group 3 is chromosomes 1, 4, 7, 8, 10, 13, 15 (Methods, 'Variant effect quantification benchmark').

Source checking is not independent reproduction. Release 2026-11-02-a7f03c9e55a5.

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Evidence

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Evidence table

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1 evidence row matching the loaded filters

Claims, original sources and review scope · Release 2026-11-02-a7f03c9e55a5
Property and statementOriginal source and locationReview and provenance
Facets: method types
1 values
  • supervised_machine_learning
Individual claims
Benchmarking DNA foundation models for genomic and genetic tasks

Original source ↗

The store's Enformer and Sei model records (regulatory-variant-20261009-model-enformer, regulatory-variant-20261009-model-sei) are supervised_machine_learning

Version: PMC12663285.1
Retrieved: 2026-09-17T07:54:51.004119+00:00

conflicting claim

["automated-source-review"] · 2026-10-12

Audit details

Correct the method type from conventional_pipeline to supervised_machine_learning (use-case baseline review 2026-10-12, table 2). The review did not read the Feng source. These configurations have no method link. catalog-model-alphagenome is tagged foundation_model; Feng prints AlphaGenome with an asterisk as a non-DNA-foundation comparator. Evidence from docs/reviews/use-cases/baselines-2026-10-12.md. Independent review 2026-10-12: approved. See docs/reviews/2026-10-12-method-type-corrections.md.

Conflicting source claim: "[\"supervised_machine_learning\"]". Claim record status: source_checked.

Field: facets.method_types

Claim: metadata-correction-tags-20261012-f243e94c160e04f31a55

Source artifact SHA-256: 5d8ca9bcf88cc1b38ad667906a2e4699b1aefa6d31c6f49259784930353f3202

Hash scope: Exact retrieved primary paper artifact bytes.

Inspected artifact

Sources and history

Release 2026-11-02-a7f03c9e55a5 · Record review: source checked

1 source record and release historyDownload this release (gzip)
Technical metadata and extraction receipts

Stable ID: amp-feng-20261007-config-variant-sei-output-tracks

method types
supervised_machine_learning
actual input bp
4096
foundation model eligible
false
head
Supervised random forest fitted separately for this task
missing metadata
head revision: reason: unextracted; output aggregation bp: reason: unextracted; version: reason: unreported; note: Printed model name and input representation only; immutable checkpoint/head revision is unreported in the inspected primary text.
reported name
Sei, output tracks*
representation
Alternate-minus-reference frozen representation
task
pathogenic/common SNP classification
provenance note
Sei, output tracks* (pathogenic/common SNP classification); Feng et al. 2025 source-reported, task-scoped configuration. Printed in the source with an asterisk as a non-DNA-foundation specialised genomic comparator, not one of the paper's own DNA foundation models. Actual DNA input consumed by the model: 4096 bp (a crop of the dataset's generated window where smaller).
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