Genetic & Genomic MedicinemedRxivPreprint
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim…·Dennis Lal
The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.
DOI 10.64898/2026.03.05.26347086