Article

P-KNN: Maximizing variant classification evidence through joint calibration of multiple pathogenicity prediction tools

2025-09-27

Abstract excerpt

<h4>ABSTRACT</h4> Clinical guidelines for Mendelian disease diagnosis require that outputs from variant pathogenicity prediction tools be converted into well-calibrated probabilities. However, the existing calibration process is only valid when pre-committing to a specific tool, preventing clinicians from using multiple tools with complementary strengths. To lift this restriction, we introduce Pathogenicity K-Nea...

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Literature Corpus work: 57ab4f07-2b37-5feb-a9b4-f7c3c69ba522
DOI: 10.1101/2025.09.24.678417

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