Open access
Jul 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.
Ugo Sorrentino, M. Brugger, A. Saparov et al.
· Movement Disorders · 0 citations