Vision-Based Genomic Model for Copy Number Variant Pathogenicity Prediction
Ilia Buralkin, Jorge Botas, Kai-Li Chang, Yueqian Deng, Athanasios Papastathopoulos-Katsaros, Zhandong Liu, Junseok Park
This paper introduces a vision-based model for predicting CNV pathogenicity using track-based spatial representations, achieving improved performance on benchmarks and clinical datasets.
bioRxiv · May 26, 2026 · PreprintBioinformatics