Article

Screen-VarCal: An Interpretable Probabilistic Framework for Recalibrating ACMG Rule-Based Variant Classification in Preventive Medicine

2025-09-25

Abstract excerpt

<h4>Motivation</h4> hole-genome sequencing (WGS) is increasingly used for preventive genomics, yet rule-based ACMG engines such as InterVar were tuned for high pre-test probability diagnostics. In screening contexts, these heuristics can inflate pathogenic/likely pathogenic (P/LP) calls, prompting unnecessary follow-up. We sought an interpretable, data-driven recalibration tailored to proactive use. <h4>Results...

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Literature Corpus work: 0d828607-8d9c-5dc9-ad30-e6ebaa1639de
DOI: 10.1101/2025.09.23.678112

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