SIMLINK enables accurate variant pathogenicity prediction through modeling the gene-variant-feature association structure.

Abstract excerpt

MOTIVATION: Predicting variant pathogenicity is crucial for clinical genetics. Existing approaches face two primary limitations. First, biologically, data for pathogenicity prediction often lacks explicit modeling of the gene-variant-feature association structure. A single gene can harbor multiple variants, and each variant can be characterized by multiple features intrinsically associated with its parent gene....

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