Dev Tools · 1h ago
Variant-confidence v0.1.0 adds calibration layer for pathogenicity scores
Variant-confidence wraps existing variant-effect predictors like AlphaMissense to produce calibrated, uncertainty-aware outputs. It uses Platt scaling or isotonic regression, conformal prediction, and reports Expected Calibration Error with confidence intervals. The tool is open-source under AGPL-3.0 and has passed 28 tests in a clean audit.
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A practical tool that addresses a real gap in computational genomics, but its impact depends on adoption by clinical labs and integration with existing workflows.
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variant-confidence v0.1.0: a calibrated confidence layer for variant-effect pathogenicity scores →
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