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

Huixin Zhan, Jason H. Moore, Zijun Zhang

2025Nature Machine Intelligence8 citationsDOI

Topics & Concepts

PathogenicityDiseaseGenomicsComputational biologyBiologyMedicineGeneGeneticsGenomePathologyMicrobiologyGenomics and Rare DiseasesRNA and protein synthesis mechanismsCardiomyopathy and Myosin Studies
A disease-specific language model for variant pathogenicity in cardiac and regulatory genomics | Litcius