A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
ELBAY E. ALIYEV, Akshay Kumar Avvaru, Wouter De Coster, Garrison M. Arner, Denis M. Nyaga, Sophia B Gibson, Ben Weisburd, Bida Gu, Claudia Gonzaga-Jauregui, Jonas A. Gustafson, Joy Goffena, Wayne E. Clarke, Evan E. Eichler, Theodore M. Nelson, Anthony A. Snead, , Harriet Dashnow
This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.
Genome biology · Aug 4, 2026Peer-reviewedBioinformatics