A disease-specific language model for variant pathogenicity in cardiac and regulatory genomics

Nature Machine Intelligence, Published online: 24 March 2025; doi:10.1038/s42256-025-01016-8

DYNA fine-tunes genomic foundation models with disease specificity using a Siamese network. It generalizes to rare-variant test sets and replicates results in ClinVar, advancing variant effect prediction for cardiovascular diseases and RNA splicing.

​Nature Machine Intelligence, Published online: 24 March 2025; doi:10.1038/s42256-025-01016-8DYNA fine-tunes genomic foundation models with disease specificity using a Siamese network. It generalizes to rare-variant test sets and replicates results in ClinVar, advancing variant effect prediction for cardiovascular diseases and RNA splicing. Read More