Identifying Putative Pathogenic Non-Coding Variants in Unresolved Rare Disease Patients Using Topologically Associated Domains
Anthony M. Gacita, Matthew Pahl, Manuel Torres-Diz, Shiva Ganesan, Justin J. Blair, Khushbu Patel, Rajagopalan Ramakrishnan, Laura Kathleen Conlin, Ingo Helbig, Struan F.A. Grant
The paper introduces GAVURD, a system to identify putative pathogenic non-coding variants in unresolved rare disease patients using trio whole genome sequencing and TAD data, and identifies six potentially causal variants in ten probands.
bioRxiv · Sep 20, 2026 · PreprintGenomics