Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life.

Abstract excerpt

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. We developed VUS.Life, a multi-modal framework...

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