Open access
Sep 2026
Identifying Putative Pathogenic Non-Coding Variants in Unresolved Rare Disease Patients Using Topologically Associated Domains
The GAVURD system serves an important role in prioritizing candidate non-coding causal variants for unresolved rare disease that can serve as the high value and informed focus of additional functional follow-up studies.
Anthony M. Gacita, M. Pahl, Manuel Diz Torres et al.
· bioRxiv · 0 citations