Genetic & Genomic MedicinemedRxivPreprint
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing
Sophia B Gibson, Nikhita Damaraju, J. (Gus) Gustafson…·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.
DOI 10.64898/2026.04.30.26352103