Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph

Nat Methods. 2024 Jun;21(6):967-970. doi: 10.1038/s41592-024-02269-8. Epub 2024 May 10.


Despite advances in long-read sequencing technologies, constructing a near telomere-to-telomere assembly is still computationally demanding. Here we present hifiasm (UL), an efficient de novo assembly algorithm combining multiple sequencing technologies to scale up population-wide near telomere-to-telomere assemblies. Applied to 22 human and two plant genomes, our algorithm produces better diploid assemblies at a cost of an order of magnitude lower than existing methods, and it also works with polyploid genomes.

MeSH terms

  • Algorithms*
  • Diploidy*
  • Genome, Human
  • Genome, Plant
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Polyploidy*
  • Sequence Analysis, DNA / methods
  • Telomere* / genetics