Article

VUS. Life: Leveraging Vector Embeddings for Rapid and Accurate Pathogenicity Prediction of Genetic Variants

2026-01-21

Abstract excerpt

<title>Abstract</title> <p> Background Interpreting the pathogenicity of genetic variants remains a critical bottleneck in genomic medicine. Millions of variants of uncertain significance (VUS) hinder the clinical application of genetic findings. Traditional computational approaches often rely on hand-engineered features and fail to capture the complexity of multidimensional genomic annotations fully. Methods...

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Literature Corpus work: da546165-d27f-5b93-9ade-9c0d3cf1841a
DOI: 10.21203/rs.3.rs-8605164/v1

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