rewire.it
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Benchmarks

A map of biological models and the tests that fit them, alongside independently measured rewire.it results and a separate collection of scores reported in research papers.

Explore by biology

Browse models and evaluation tasks by area of biology.

Find a model

Find a model, explore the tests that apply to it and see what each evaluation requires.

27 candidate models and comparators

Results reported in papers

Results from 100 papers, with datasets, evaluation methods and links to the source.

Explore literature →

Our measured runs

See how DNABERT-2 and specialist splicing tools compare with a simple baseline on MFASS.

Read the corrected result →

For rewire.it runs, the aim is to publish a floor that anyone can measure against and re-run. These six requirements guide each independent result and its published protocol.

  1. A trivial baseline always runs, with a fair tuning budget. A leaderboard without a floor is misleading, and in this field the floor frequently wins.
  2. The grouping rule and the independent-group count are published with every result. Splits leak in ways that never show up in the output file.
  3. Contamination is stated for every pretrained method: what was checked, and what is unknown. “Unknown” is an acceptable answer. Silence is not.
  4. Coverage reconciles against the original denominator. A method that cannot score an input has a coverage problem, not a negative prediction.
  5. Throughput sits beside accuracy, measured end to end.
  6. Configuration is recorded: checkpoint revision, pooling, context in bases and tokens, precision, batch size.

mfass-v1 · historical report

Superseded by MFASS v2. The original baseline centred sequence windows incorrectly for 7,770 eligible variants. Its score and comparisons below are the preserved v1 record, not current evidence for choosing a model. Read the corrected v2 result →

Splice-variant prioritisation against a functional assay. Does a model improve the ranking of splice-region variants over the tools a diagnostic laboratory already runs?

Built on MFASS, from Chong and colleagues, Molecular Cell 2018: 27,733 ExAC variants assayed for exon recognition in a minigene reporter, with 1,050 splice-disrupting at 3.8% prevalence. The labels come from a functional assay rather than clinical assertions. About 17% of the disrupting variants sit at canonical splice sites.

Results

Held-out set of 8,324 variants across 463 independent groups, grouped by connected exon and gene components. Primary metric is precision at a 100-variant review capacity.

MethodFamilyP@100APAUROCCoverages/variant
baseline-kmer-positiontrivial baseline0.6200.2860.7688324/83240.00002
spliceai-1.3.1specialist0.6400.2990.8068194/83240.54
pangolin (mask=False)specialist0.6500.3890.8768301/83241.64

Paired comparisons

Observed difference on the variants both methods scored, with a 95% interval from resampling whole groups. Bold means the interval excludes zero.

Candidate minus referenceP@100APAUROC
SpliceAI minus baseline+0.020 [−0.090, +0.105]+0.009 [−0.040, +0.056]+0.037 [+0.002, +0.075]
Pangolin minus baseline+0.030 [−0.054, +0.102]+0.102 [+0.061, +0.138]+0.108 [+0.081, +0.134]
Pangolin minus SpliceAI+0.010 [−0.039, +0.076]+0.092 [+0.061, +0.122]+0.070 [+0.043, +0.094]

Original v1 interpretation, superseded by the corrected v2 result: Across the scored variants, Pangolin leads on AUROC, followed by SpliceAI and the baseline. Among the first hundred variants an analyst would actually review, the three put 62, 64 and 65 confirmed disruptions in the queue and cannot be told apart.

By distance to the exon boundary

AUROC on the 8,194 variants all three methods scored.

BandVariantsSDVsbaselineSpliceAIPangolin
canonical, 0 to 2443410.8250.9020.925
near, 3 to 101,671770.7450.7980.857
mid, 11 to 304,1661590.7440.7850.868
distal, over 301,914310.7860.7440.844

These bands are descriptive and carry no comparison interval. The distal band holds only 31 positives, and the band variable is itself a fitted feature of the baseline, so a reversal involving the baseline there is confounded with its supervision rather than simply imprecise.

What this does not establish

MFASS measures exon recognition in a minigene construct. These are not predictions of splicing in patient RNA. The baseline is supervised on this assay’s training split while both specialists are zero-shot, so that comparison measures in-domain training against a specialist prior rather than the standalone quality of either tool. SpliceAI ran on its bundled GENCODE v24 annotation and Pangolin on v44, so the gap between them carries an annotation difference as well as a model difference. A matched-annotation run is needed before attributing the size or direction of that gap to the models alone. A frozen DNABERT-2 protocol is now reported separately in mfass-v2.

Reproduce the preserved v1 baseline

The benchmark code is MIT licensed; the MFASS source data remains the authors’ work. The baseline path uses pinned benchmark and MFASS revisions, with no genome retrieval, because every assayed sequence is a self-contained 170-base window.

git clone https://github.com/rewire-bio/rewire-benchmarks
cd rewire-benchmarks
git checkout edf5b5c0b83bec27975e8c8a30be88e7a3581a52
uv sync

curl -L -o benchmarks/mfass/data/snv_data_clean.txt \
  https://raw.githubusercontent.com/KosuriLab/MFASS/9a8e4f27106be52aeb11acad27f95f5cded663a8/processed_data/snv/snv_data_clean.txt
curl -L -o benchmarks/mfass/data/snv_func_annot.txt \
  https://raw.githubusercontent.com/KosuriLab/MFASS/9a8e4f27106be52aeb11acad27f95f5cded663a8/processed_data/snv/snv_func_annot.txt

uv run mfass-build
uv run mfass-split --key ensembl_id --key ensembl_gene_id \
  --out benchmarks/mfass/splits/split-v2.tsv
uv run mfass-baseline

The specialist runs additionally need a GRCh38 primary assembly and, for Pangolin, a GENCODE database. Both runners pin every flag explicitly, including the ones already at their defaults, because SpliceAI and Pangolin disagree about masking by default and that difference is easy to mistake for a difference between the models.

rewire-benchmarks on GitHub

Next

A matched-annotation SpliceAI run to close the confound above, Pangolin at its own masking default to measure what that setting is worth, and further pretrained encoders with declared scoring protocols. Further benchmarks will follow the same six rules.

If there is a task or dataset you would like evaluated this way, or you think a result here is wrong, the repository takes issues and so do I.

tim@rewire.it