feat: add script to count unique variant effect measurements within ACMG-classified ranges#587
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bencap merged 1 commit intorelease-2025.5.1from Nov 24, 2025
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…CMG-classified ranges
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This pull request introduces a new analysis script for MaveDB that counts unique variant effect measurements falling within ACMG-classified functional ranges. The script provides summary statistics on the clinical interpretability of variant effect data using ACMG evidence strength frameworks. It is a read-only script intended for data analysis and reporting.
New ACMG classification analysis script:
calibrated_variant_effects.pyscript tosrc/mavedb/scripts/, which analyzes MaveDB score sets to count variants with functional scores in ACMG-classified calibration ranges, providing summary statistics on classification coverage.click, with options for dry-run and commit modes (though the script is read-only).