478-popEVE: A Proteome-Wide Model for Human Disease Genetics
The paper describes the development and validation of popEVE, a deep generative model designed to interpret missense genetic variants on a proteome-wide scale. By integrating deep evolutionary data with human population variation, the model creates a calibrated scoring system that allows researchers to compare the severity of mutations across different proteins. This approach addresses a major limitation in clinical genomics where previous tools often overpredicted pathogenicity or failed to distinguish between mild and life-threatening conditions. In practical applications, popEVE identified…
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