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Computational Prioritization of BARD1 Missense Variants of Uncertain Significance Using Integrated REVEL, CADD, and AlphaMissense Predictions with gnomAD Population Frequency Stratification

2026-08-28

Abstract excerpt

<title>Abstract</title> BARD1 (BRCA1-associated RING domain 1) is a moderate-penetrance breast and ovarian cancer susceptibility gene, yet the majority of missense variants identified through clinical genetic testing remain classified as variants of uncertain significance (VUS) in ClinVar. Unlike BRCA1, ATM, and RAD51C, no published study has systematically integrated multiple orthogonal in silico pathogenicit...

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Literature Corpus work: fa0cbe36-0fc7-577b-a780-68a876fa4b54
DOI: 10.21203/rs.3.rs-10808240/v2

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