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Genomi

v0.1.0 Feature

This release adds 3 notable features for engineering teams evaluating rollout.

✓ No known CVEs patched
Read the diff → Tool health → What is this tool? →

✓ No known CVEs patched in this version

Topics

agent-harness genome-analysis whole-genome-sequencing

Summary

AI summary

Updates Genome Indexing, Highlights, and Decode Dashboard across a mixed release.

Full changelog

Genomi 0.1.0 is the first public release. These notes focus on release-specific
changes and upgrade-relevant behavior; see README.md for the broader product
overview, source support, privacy model, and setup flow.

Highlights

  • First public package metadata and install/update path for genomi.
  • Local decode dashboard generation is available for broad first-pass genome
    review.
  • Active Genome Index parsing now supports variant-ready gVCF imports with
    background reference-block completion.
  • .genome/1.0 bundle intake is supported alongside the source formats
    described in the README.
  • Pharmacogenomic and ClinVar review paths now report clearer evidence state,
    missing-source state, and sample-specific context.
  • Install/update runs are idempotent, so re-running genomi install or
    genomi update is the supported maintenance path.

Decode Dashboard

  • Dashboard panels now distinguish ready, empty, blocked, and unavailable
    states.
  • Missing libraries, unavailable sources, or insufficient overlap are shown as
    limitations instead of negative findings.
  • Pharmacogenomic findings are ordered by finding severity.
  • Journal content is no longer included in the dashboard; the dashboard focuses
    on current evidence panels.
  • Dashboard output is staged for local browser viewing.

Pharmacogenomics And ClinVar

  • Medication-response review separates guideline evidence, label evidence,
    association evidence, sample-specific evidence, and missing evidence more
    clearly.
  • PharmCAT workflows handle preflight checks, generated artifacts, imported
    results, calls-only TSV files, and VCF header edge cases more reliably.
  • ClinVar matching preserves the connection between public assertions and the
    observed allele evidence from the local genome index.
  • Missing optional evidence libraries are reported as blocked evidence scope,
    not as absence of findings.

Genome Indexing

  • Source detection is content-based and can handle compressed or archived inputs.
  • gVCF parsing becomes usable for variant interpretation before reference-block
    processing is fully complete.
  • Consumer-array no-calls and downstream genotype matching have clearer
    behavior.
  • VCF export for downstream pharmacogenomic workflows now normalizes metadata
    and invalidates stale export caches.

Install And Update

genomi install and genomi update are the same update path. Re-running either
command is safe and will only refresh what needs refreshing unless a forced
download is requested.

The updater can:

  • Refresh the Genomi runtime.
  • Install or update selected public reference libraries.
  • Repair host-agent skill links.
  • Refresh public retrieval indexes.
  • Keep older local Active Genome Index records aligned with the current runtime.

Genomi now also follows modern data-directory defaults when available, while
still supporting GENOMI_HOME for explicit installs.

Known Limits

  • Genomi is still experimental, and the tool surface may continue to change.
  • Some evidence areas require optional public libraries or external tools before
    they can answer.
  • External public sources may be temporarily unavailable.
  • Missing data, missing libraries, or low overlap are limitations, not negative
    evidence.
  • Polygenic, ancestry, nutrigenomic, and common-trait findings should be
    interpreted qualitatively unless a cited source provides a validated number.

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Related context

Beta — feedback welcome: [email protected]