rewirebio.iobenchmarks

Use caseDNA and genomesResearch and clinical research

Select a plasma ctDNA methylation detection workflow

Which measured methylation workflow detects tumour-derived plasma DNA and, where separately supported, identifies tissue of origin?

In this release 1 evaluated endpoint · 1 tested configuration · Direct evidence for the stated endpoint · 2 recorded evidence gaps

Question and applicability

Inspect the cfMethyl-Seq repeated-split sensitivity/specificity evidence before selecting a workflow and validation design for the intended cancer-detection population.

Who this is for
  • Clinical researchers scoping the available diagnostic-genomics evidence
  • Computational researchers comparing exact evaluated configurations
Research setting

Research and clinical research. See Clinical research scope for what the evidence does not establish.

Biological setting
cfMethyl-Seq achieves 80.7% all-stage cancer-detection sensitivity (95% CI 68.6-90.7) at 97.9% specificity, under a repeated random 25% test split (cohort 217 cancers/191 non-cancers, test n=102).

Outside this use case

  • Tissue-of-origin identification (not ingested in this bounded intake)
  • Prospective screening validation

Inputs and expected output

Inputs you need

  • Plasma cell-free DNA for targeted/genome-wide methylation sequencing
  • The target specificity constraint for the intended use

Expected output

A sourced all-stage cancer-detection sensitivity/specificity figure from a repeated random test split; no tissue-of-origin claim is ingested in this bounded intake.

Clinical research scope

Clinical applicability is not established as prospective screening performance: this is a repeated random test-split evaluation on one assembled cohort, not an independent prospective validation.

Evaluated evidence

Evidence is grouped by its protocol. Relevance refers to the stated endpoint and context; it is separate from clinical validation and from the review method. Limits specific to each evaluation are listed with it.

cfMethyl-Seq random-split four-cancer detection

Current source-reviewed mapping

Direct evidence for the stated endpoint

A repeated-split cross-validated sensitivity/specificity figure at a declared specificity directly measures plasma cfDNA methylation cancer-detection performance, the declared endpoint.

Assessed endpoint
All-stage cancer-detection sensitivity (95% CI) at a declared specificity for cfMethyl-Seq on a repeated random 25% test split
Evaluation protocol
cfMethyl-Seq random-split four-cancer detection
Computational task
A reviewed task relationship is not recorded for this protocol.
Input and population constraints
  • Inspect every linked evaluation's source locator and preserved conflicts before citing a result.
  • Do not combine this mapping's evaluations with any other protocol's results.

Limits on interpretation

  • No foundation-model comparison
  • No prospective screening benefit
  • No independent reproduction

Automated source review · 2026-10-07 · Claude Sonnet AMP-integration worker, bounded transcription of Codex-checked primary values; independently reviewed by Codex (workbench/amp-supervision/primary-review.md, integration-review-corrections.md)

Bounded primary-source transcription, independently Codex-checked. No new model execution, independent experimental reproduction, qualified human scientific review or clinical validation.

Evaluated configurations

Each configuration below belongs to this protocol. Inspect its inputs, population and scoring conditions before comparing it with another evaluation.

cfMethyl-Seq stacked ensemble (2022)

Author-reported evaluation · Source checked

Scoped author-reported evidence candidate; no clinical recommendation.

Inspect results, conditions and reproduction (1 recorded result)
Population and split
217 cancers /191 noncancers total; held-out repeated25% splits; test Fig3c n102 · 10 repeated random 75:25 train/test splits
Inputs and adaptation
Plasma cfMethyl-Seq methylation markers · Not reported
Evaluation budget
Not reported
Runtime and memory

Runtime and memory measurements are not reported in this evaluation. A study budget is not a runtime or memory measurement.

Recorded results for this configuration
MetricValueCoverageUncertainty and source
sensitivity_at_97_9_percent_specificity80.7%

percent · higher

Not reported scored / Not reported eligible

95% CI 68.6%–90.7%

Result provenance

Evaluation methods, evidence and reproduction

No execution recipe has been verified for this exact configuration and evaluation. Inspect its methods and original run documentation before attempting reproduction.

Open the protocol's results and comparison checks →

Mapping sources and review metadata

Mapping use-case-mapping-amp-20261007-issue16 · revision 1

Add Codex-checked primary-source protocol evidence from the bounded AMP intake (rewire.it#365).

Reviewed evidence fingerprint a4557cbe344cb50f36f257abb924d6a0f31b765c965dd695fae27dd18cf9327b

Limitations and missing evidence

These gaps apply to the question as a whole. Absence of evidence is not a zero score.

  • No per-run scored denominator beyond the printed test n=102 is inferred.
  • A correction/source-reuse note on this source is tracked separately from the assay sensitivity/specificity values and must not be conflated with them.

Planned work

These plans do not contribute measured results or evaluated winners above.

Contribute evidence or propose a correction

Evidence collection plan

Collecting evidence

Mapped evidence already covers 1 evaluated endpoint, in the evaluated evidence above. The status above describes only the specific comparison in this plan, which remains open; it does not mean no evidence has been collected. The plan defines a comparison to investigate; it does not establish model performance or suitability.

Comparison question

Which measured methylation workflow detects tumour-derived plasma DNA and, where separately supported, identifies tissue of origin?

Baselines, outcomes and validation requirements

Baselines to include

  • The conventional/author-introduced workflow measured in the linked primary source(s).

Outcomes to measure

  • The declared endpoint in this use case's active mapping(s); see evidence_gaps for what remains open.

Validation requirements

  • Independent held-out population matched to the intended clinical setting.
  • Qualified human scientific review before any clinical-validation claim.

Next collection task

A dedicated rewire-benchmarks protocol/run task with an independent prospective cohort and an explicit tissue-of-origin evaluation if pursued.

Sources and review

Automated source review · 2026-10-07 · Claude Sonnet AMP-integration worker, bounded transcription of Codex-checked primary values; independently reviewed by Codex (workbench/amp-supervision/primary-review.md, integration-review-corrections.md)

Bounded primary-source transcription, independently Codex-checked. No new model execution, independent experimental reproduction, qualified human scientific review or clinical validation.

Release provenance and downloads

Release 2026-10-07-1448159e6a81

Use-case input digest d60fd7f669bfec7bd34ec6e5080d8e1cb4e8186f8286ead60888848f1e20e001

Download questions, collection plans and review metadata (JSON) · Verify release checksums

Question use-case-plasma-ctdna-methylation. Any numerical results on this page come from this release's existing evaluation records.