Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
Sophia B Gibson, Nikhita Damaraju, J. (Gus) Gustafson, Elsa V. Balton, Sirisak Chanprasert, Ian A. Glass, Martha J. Horike-Pyne, Runjun D. Kumar, Kathleen A. Leppig, Chris Lundberg, Jane E. Ranchalis, Elisabeth A. Rosenthal, Andrew K. Solomon, Andrew B. Stergachis, Mark Wener, , Danny E. Miller
The paper develops TRoLR, a pipeline using long-read sequencing to detect and prioritize pathogenic tandem repeat expansions in diverse populations, identifying known and novel expansions with clinical relevance.
medRxiv · May 1, 2026 · PreprintGenetic & Genomic Medicine