Feng pathogenic-versus-common SNP classification
Table 5 pathogenic-versus-common SNP classification; Feng et al. 2025 source-reported protocol.
Overview
Table 5 pathogenic-versus-common SNP classification; Feng et al. 2025 source-reported protocol.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
11 recorded evaluations, 22 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
11 evaluations · 22 results. Different protocols are not a single leaderboard.
Filter evaluations
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: Caduceus-Ph (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.696 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCaduceus-Ph 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, Caduceus-Ph row, AUC column (deterministic XML extraction) |
| Configuration: Caduceus-Ph (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.735 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCaduceus-Ph 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, Caduceus-Ph 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: Caduceus-Ph, long sequence (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.624 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCaduceus-Ph, long sequence 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, Caduceus-Ph, long sequence row, AUC column (deterministic XML extraction) |
| Configuration: Caduceus-Ph, long sequence (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.462 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCaduceus-Ph, long sequence 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, Caduceus-Ph, long sequence 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: DNABERT-2 (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.538 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceDNABERT-2 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, DNABERT-2 row, AUC column (deterministic XML extraction) |
| Configuration: DNABERT-2 (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.134 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceDNABERT-2 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, DNABERT-2 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: Enformer, hidden states* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.688 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEnformer, hidden states* 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, Enformer, hidden states* row, AUC column (deterministic XML extraction) |
| Configuration: Enformer, hidden states* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.727 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEnformer, hidden states* 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, Enformer, hidden states* 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: Enformer, output tracks* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.666 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEnformer, 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, Enformer, output tracks* row, AUC column (deterministic XML extraction) |
| Configuration: Enformer, output tracks* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.654 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEnformer, 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, Enformer, 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: GROVER (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.603 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceGROVER 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, GROVER row, AUC column (deterministic XML extraction) |
| Configuration: GROVER (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.369 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceGROVER 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, GROVER 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: HyenaDNA-450K, long sequence (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.626 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceHyenaDNA-450K, long sequence 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, HyenaDNA-450K, long sequence row, AUC column (deterministic XML extraction) |
| Configuration: HyenaDNA-450K, long sequence (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP long-window dataset | 0.449 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceHyenaDNA-450K, long sequence 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, HyenaDNA-450K, long sequence 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: HyenaDNA (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.612 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceHyenaDNA 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, HyenaDNA row, AUC column (deterministic XML extraction) |
| Configuration: HyenaDNA (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.395 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceHyenaDNA 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, HyenaDNA 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: NT-v2 (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.732 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceNT-v2 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, NT-v2 row, AUC column (deterministic XML extraction) |
| Configuration: NT-v2 (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.881 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceNT-v2 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, NT-v2 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, hidden states* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.66 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSei, hidden states* 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, hidden states* row, AUC column (deterministic XML extraction) |
| Configuration: Sei, hidden states* (pathogenic/common SNP classification) | Protocol: Feng pathogenic-versus-common SNP classification Dataset: Feng pathogenic/common SNP short-window dataset | 0.557 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSei, hidden states* 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, hidden states* 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 | 0.664 pathogenic/common SNP AUC AUC · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSei, 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 pathogenic/common SNP Cohen's d Cohen's d · unknown Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceSei, 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. |
Source checking is not independent reproduction. Release 2026-10-07-1448159e6a81.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Recorded evaluations
Each evaluation records what was tested and under which conditions.
- Caduceus-Ph pathogenic/common SNP evaluation
- Caduceus-Ph, long sequence pathogenic/common SNP evaluation
- DNABERT-2 pathogenic/common SNP evaluation
- Enformer, hidden states* pathogenic/common SNP evaluation
- Enformer, output tracks* pathogenic/common SNP evaluation
- GROVER pathogenic/common SNP evaluation
- HyenaDNA pathogenic/common SNP evaluation
- HyenaDNA-450K, long sequence pathogenic/common SNP evaluation
- NT-v2 pathogenic/common SNP evaluation
- Sei, hidden states* pathogenic/common SNP evaluation
- Sei, output tracks* pathogenic/common SNP evaluation
Baseline coverage
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- External evaluations
- 11
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Null control
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Training-set class prior where supervised fitting is permitted
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Conventional reference
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Regularised classifier on simple permitted features, or protocol's conventional reference
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This is a suggested selection rule, not a validated method or a measured score.
Protocol coverage CSV · Model evaluation matrix · Source table · Release and checksums
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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Stable ID: amp-feng-20261007-protocol-pathogenic-common-variant-classification
- areas
- dna-genomes
- missing metadata
- None recorded
- scope note
- Alternate-minus-reference embedding representations scored by a supervised random forest classifier. Three disjoint outer chromosome test groups (3/6/9/12/16/18/19/21; 2/5/11/14/17/20/22/X; 1/4/7/8/10/13/15), each held out in turn with fourfold inner-chromosome cross-validation for hyperparameter tuning. Short and long are separate scored populations by window-size boundary exclusion, never pooled; see each configuration/dataset for its exact window assignment. Exact immutable checkpoints are unreported; configurations retain the printed model name and input representation only.
- task
- Pathogenic-versus-common SNP discrimination (AUC, Cohen's d)
- version
- Table 5
Related records
- protocol: Caduceus-Ph pathogenic/common SNP evaluation
- protocol: Caduceus-Ph, long sequence pathogenic/common SNP evaluation
- protocol: DNABERT-2 pathogenic/common SNP evaluation
- protocol: Enformer, hidden states* pathogenic/common SNP evaluation
- protocol: Enformer, output tracks* pathogenic/common SNP evaluation
- protocol: GROVER pathogenic/common SNP evaluation
- protocol: HyenaDNA pathogenic/common SNP evaluation
- protocol: HyenaDNA-450K, long sequence pathogenic/common SNP evaluation
- protocol: NT-v2 pathogenic/common SNP evaluation
- protocol: Sei, hidden states* pathogenic/common SNP evaluation
- protocol: Sei, output tracks* pathogenic/common SNP evaluation