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mito-overview v0.2.1

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@elissonnog elissonnog released this 07 Jul 16:56
2ba62b7

mito-overview v0.2.1

This release supports the free-format workflow/resource manuscript draft for mito-overview.

Release identifiers

Scope

This release supports a bounded software/resource claim: reproducible, mode-gated mtDNA reporting from aligned sequencing data with long-read-oriented evidence layers and an auxiliary reduced short-read compatibility path. It is not a clinical diagnostic validation, calibrated low-VAF benchmark, deletion-truth benchmark, pathogenicity classifier, formal NUMT classifier, or mtDNA methylation biology claim.

Validation summary

Passed checks include:

  • python -m mito_overview.cli --list-steps
  • python -m mito_overview.cli --config examples/configs/human_example.env --dry-run
  • synthetic long-read smoke workflow
  • synthetic reduced short-read smoke workflow
  • long-read no-methylation smoke workflow
  • local release-candidate validation packet with output inventories and checksums
  • fresh clone from the pushed v0.2.1 tag followed by CLI, dry-run, and all three smoke workflows

The public GM11906 reduced short-read proof-of-principle rerun reproduced the marker-level m.8344A>G representation reported in the manuscript draft. The full public GM12878 ONT FASTQ rerun remains deferred for the release gate because the source FASTQ is approximately 1.9 GB before alignment; the tracked public long-read asset pack remains included for workflow-output inspection.

Manuscript artifacts

The release assets include an inspectable DOCX and PDF export of the free-format manuscript draft. The canonical manuscript source remains paper/preprint_draft.md in the repository.

External archive

A Zenodo DOI or Software Heritage identifier has not yet been assigned. This GitHub tag archive is the versioned source reference until an external archive identifier is minted.