GemLogic WAVE
Workflow Accuracy and Variant Evidence Product preview

Pipelines can lose real variants. WAVE checks the evidence.

A genomic workflow turns read evidence into a final call list. A filter can remove a real variant, and a caller can never propose one. WAVE checks each pipeline decision against the reads and searches the reads for what no call list holds. It records the reason for every conclusion, and stays unresolved where the evidence does not permit a claim.

Implemented Event Rescue: discovery
  1. Synthetic BAM
  2. Truth-blind scan
  3. candidate observations
  4. Not truth classified
Implemented Event Assurance
  1. Supplied synthetic event evidence
  2. Deterministic reasons
  3. Review status
  4. Independent verification
Built outside this preview

Discovery candidates joined to independent benchmark evaluation, built and run on development data, not on this page. Here the two checks run on separate fixtures and share no data: no discovery candidate appears in the Event Assurance check.

Implemented

Event Rescue: blind discovery

The scan reads a declared region of a synthetic BAM. It is never given the benchmark truth or the pipeline's VCFs, and it runs twice to prove its output is reproducible.

What the scan received

Read back from the recorded invocation and matched to discovery inputs by content.

    Generator
    Reference
    Bases scanned

    Candidate observations

    IDLocusChangeUsable depthAlt reads Alt fractionFwd / rev
    Discovery candidate
    Candidate observation, not yet truth classified

    Read support at this position

    Evidence from the scan

    Scan inputs
    Generator
    Discovery manifest
    First run
    Repeat run
    Repeatable
    Implemented

    Event Assurance

    A separate check over a separate fixture. Comparator output here is a supplied synthetic fixture input: the benchmark comparator does not run. Read evidence is counted from the fixture's synthetic BAM. None of these events is a discovery candidate.

    Assurance event

    Each result compares the reads with the pipeline's own decision, so a filtered variant with strong read support is Contradicted too.

    Pipeline disposition . Benchmark truth is not a WAVE policy input. Each reason is shown beside the counted value that made it hold. Not measured by this extractor: .

    ReasonCondition testedCounted value
    Assurance event
    Claim refused

    Technical evidence is not benchmark truth

    Technical evidence assessment
    Benchmark classification
    TP or FP claim

    The policy assessed the counted technical evidence without the benchmark outcome. The benchmark layer then declines to classify an event outside its assessable region. A technical assessment, supporting or contradicting, permits a statement about the evidence only; it does not make the call a true or false positive.

    Implemented

    Verification

    An independent verifier recomputes the published package. A copy changed after certification is rejected, so review conclusions stay bound to the declared inputs and the published artifacts.

    ArtifactResultEvidence

    Profile
    Package
    Change made
    ()
    CheckOriginalChanged copy

    Claim boundary

    Implemented here

      Built outside this preview

        Planned

          Not claimed here

          • Clinical accuracy
          • Sensitivity or specificity
          • Reduced review time
          • Performance on laboratory or patient data
          • Equivalence to a production variant caller