Article

Gene-based calibration of high-throughput functional assays for clinical variant classification

2025-05-04

Abstract excerpt

High-throughput assays measure a broad range of variant effects on gene function and hold promise for supporting genomic medicine. Current clinical guidelines for rare Mendelian diseases rely on establishing gene-specific score thresholds for each assay that separate pathogenic from benign variants. This introduces inconsistencies and subjectivity, ultimately lacking the rigor of calibration; i.e., mapping a varia...

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Literature Corpus work: 644695f1-4703-5fc0-97b1-863092c32377
DOI: 10.1101/2025.04.29.651326

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