BioinformaticsGenome biologyPeer-reviewed
A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
ELBAY E. ALIYEV, Akshay Kumar Avvaru, Wouter De Coster…·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.
DOI 10.1186/s13059-026-04210-y