Article

Predicting Genetic Variant Pathogenicity Using Vector Embeddings

2025-08-12

Abstract excerpt

<h4>Background: </h4> 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 fully capture the complexity of multidimensional genomic annotations. <h4>Methods:</h4> We develope...

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Literature Corpus work: 8180400a-21a8-5464-a45c-5ca8e85c2b73
DOI: 10.1101/2025.08.08.25333318

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