DeNovoSeer:a deep learning framework for pathogenicity prediction of De novo mutations.

Abstract excerpt

De novo mutations (DNMs) play a crucial role in the pathogenesis and clinical interpretation of genetic diseases. However, existing pathogenicity prediction methods either uniformly handle all variants or focus on specific variant types, lacking a systematic prediction framework for DNMs and failing to effectively integrate functional annotation with clinical evidence. In this study, we present DeNovoSeer, a deep...

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