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v0.1.0 — Calibrated confidence layer for variant-effect pathogenicity

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@amurlaniakea amurlaniakea released this 18 Jul 03:26

variant-confidence v0.1.0

Calibrated confidence layer for protein variant-effect pathogenicity predictions (AlphaMissense / ESM-1v / EVE). Does not train a new model — adds an auditable calibration layer on top of existing predictors.

Verified in clean clone (no network)

  • ruff check . → All checks passed!
  • pytest tests/28 passed in 8.90s

What's in 0.1.0

  • Calibration (AC1, AC1b): Platt scaling, isotonic regression, and split/Mondrian conformal prediction.
  • ECE metric (AC2, AC9): equal-width + adaptive bins, bootstrap CI, low-count bins flagged as low-reliability.
  • Leakage-free split (AC3): temporal by ClinVar release date + gene isolation; index-alignment bug fixed (silent-liar class).
  • Missing data (AC4, T13b): explicit missing-score handling + structured-missing detection.
  • Non-deceptive reporting (AC7): CLI emits score + interval + method + ECE before/after.
  • AlphaMissense join (T13): license-safe integration.
  • Degenerate-ECE bug fixed: synthetic generator is now discriminative; AUC preserved after calibration (no collapse to base rate).

License

AGPL-3.0-or-later — Pedro Sordo Martínez (amurlaniakea@gmail.com), 2026.

Install

pip install variant-confidence
variant-confidence --help