Genetic & Genomic MedicinemedRxivPreprint
A machine-learning framework to characterize functional disease architectures and prioritize disease variants
Siliangyu Cheng, Artem Kim, Dhrithi Deshpande, Steven Gazal
The paper introduces a machine-learning framework to model disease effect sizes from GWAS data, identifying constrained regulatory variants as key functional components and improving variant prioritization.
DOI 10.1101/2025.10.23.25338598