Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim, Chiara Klöckner, Scott J. Myers, Katrine M. Johannesen, Arthur Stefanski, Gary Taylor, Eduardo Pérez‐Palma, Marie Macnee, Stéphanie Schorge, Rebekka S. Dahl, Hongjie Yuan, Riley E. Perszyk, Sukhan 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.
medRxiv · Mar 6, 2026 · PreprintGenetic & Genomic Medicine