Evidence map›Paper›PMID 40389285›Full record

ArticleGenome research2025

Verkko2 integrates proximity-ligation data with long-read De Bruijn graphs for efficient telomere-to-telomere genome assembly, phasing, and scaffolding.

Dmitry Antipov, Mikko Rautiainen, Sergey Nurk, Brian P Walenz, Steven J Solar, Adam M Phillippy, Sergey Koren

Abstract read
In one paragraph

Article in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed.

  1. Article
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  10. Review
  11. Haplotype-aware long-read error correction.Algorithms for molecular biology : AMB · 2026
    Article
  12. Article
  13. Article
  14. Article
  15. Rapid centromere turnover and the adaptive radiation of lemurs.bioRxiv : the preprint server for biology · 2026
    Article
  16. Article
  17. Article
  18. Article
  19. A Complete Genome for the Common Marmoset.bioRxiv : the preprint server for biology · 2026
    Article
  20. The complete genome of the KOLF2.1J reference iPSC line.bioRxiv : the preprint server for biology · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Dmitry Antipov *Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0002-6087-0660
Mikko Rautiainen *Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Tukholmankatu 8, Biomedicum 2, Helsinki, Finland.ORCID 0000-0003-2971-267X
Sergey NurkOxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom.ORCID 0000-0003-1301-5749
Brian P WalenzGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0001-8431-1428
Steven J SolarGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0003-3051-9009
Adam M PhillippyGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; adam.phillippy@nih.gov sergey.koren@nih.gov.ORCID 0000-0003-2983-8934
Sergey KorenGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; adam.phillippy@nih.gov sergey.koren@nih.gov.ORCID 0000-0002-1472-8962

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Telomere-to-Telomere Consortium recently finished the first truly complete sequence of a human genome. To resolve the most complex repeats, this project relied on the semimanual combination of long, accurate Pacific Biosciences (PacBio) HiFi and ultralong Oxford Nanopore Technologies sequencing reads. The Verkko assembler later automated this process, achieving complete assemblies for approximately half of the chromosomes in a diploid human genome. However, the first version of Verkko was computationally expensive and could not resolve all regions of a typical human genome. Here we present Verkko2, which implements a more efficient read correction algorithm, improves repeat resolution and gap closing, introduces proximity-ligation-based haplotype phasing and scaffolding, and adds support for multiple long-read data types. These enhancements allow Verkko2 to assemble all regions of a diploid human genome, including the short arms of the acrocentric chromosomes and both sex chromosomes. Together, these changes increase the number of telomere-to-telomere scaffolds by twofold, reduce runtime by fourfold, and improve assembly correctness. On a panel of 19 human genomes, Verkko2 assembles an average of 39 of 46 complete chromosomes as scaffolds, with 21 of these assembled as gapless contigs. Together, these improvements enable telomere-to-telomere comparative genomics and pangenomics, at scale.

Indexed as

Genome, HumanGenomicsSoftwareTelomereAlgorithmsHaplotypesHumansSequence Analysis, DNA

Identifiers

PMID40389285
PMCPMC12212074

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.