Efficient near telomere-to-telomere assembly of nanopore simplex reads


Cheng and Qu et al. introduce hifiasm (ONT), the first algorithm to achieve near telomere-to-telomere (T2T) genome assemblies using standard Oxford Nanopore reads obtained with the Ligation Sequencing Kit — no ultra-long reads required. Providing greater contiguity at a lower cost and computational demand, this algorithm outperforms traditional methods and could make high-quality assemblies accessible for a broad range of applications, from clinical research to biodiversity genomics.

Key points:

  • Hifiasm (ONT) performs efficient error correction by using phasing information to distinguish true variants from errors

  • The algorithm assembled highly accurate and contiguous genomes across multiple human and non-human samples

  • Compared with PacBio HiFi assemblies, Oxford Nanopore assemblies exhibited substantially higher contiguity and comparable quality, even within repetitive regions

  • Hifiasm (ONT) outperformed Verkko+HERRO in T2T count and contiguity while running an order of magnitude faster and requiring less computational resource

  • It demonstrated the ability to resolve complex, medically relevant loci such as the highly homologous SMN1 and SMN2 genes that are linked to spinal muscular atrophy

  • Hifiasm (ONT) enables cost-effective, scalable genome assembly without the need for complex laboratory protocols or high computational overhead

Read our news summary or catch the talk by lead algorithm designer Haoyu Cheng at London Calling 2025 to find out more

Sample type: GIAB data and human cell lines

Kit: Ligation Sequencing Kit

Authors: Haoyu Cheng, Han Qu, Sean McKenzie, Katherine R. Lawrence, Rhydian Windsor, Mike Vella, Peter J. Park, Heng Li