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 lim...去小宇宙查看完整单集简介
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