Evidence map›Paper›PMID 39505490›Full record

ArticleGenome research2024

Gapless assembly of complete human and plant chromosomes using only nanopore sequencing.

Sergey Koren, Zhigui Bao, Andrea Guarracino, Shujun Ou, Sara Goodwin, Katharine M Jenike, Julian Lucas, Brandy McNulty, Jimin Park, Mikko Rautiainen and 17 more

Abstract readEvaluation Study
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing 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

37 citing papers in PubMed.

  1. Article
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  7. Review
  8. Article
  9. Review
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  11. Article
  12. Review
  13. Article
  14. Efficient near telomere-to-telomere assembly of Nanopore Simplex reads.bioRxiv : the preprint server for biology · 2025
    Article
  15. CompletebioRxiv : the preprint server for biology · 2025
    Article
  16. Article
  17. Article
  18. Gapless near Telomer-to-Telomer Assembly ofJournal of fungi (Basel, Switzerland) · 2025
    Article
  19. Review
  20. Evaluation of sequencing reads at scale using rdeval.Bioinformatics (Oxford, England) · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Sergey KorenGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; sergey.koren@nih.gov adam.phillippy@nih.gov.ORCID 0000-0002-1472-8962
Zhigui BaoDepartment of Molecular Biology, Max Planck Institute for Biology Tübingen, 72076 Tübingen, Baden-Württemberg, Germany.ORCID 0000-0003-3601-460X
Andrea GuarracinoDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.ORCID 0000-0001-9744-131X
Shujun OuDepartment of Molecular Genetics, Ohio State University, Columbus, Ohio 43210, USA.ORCID 0000-0001-5938-7180
Sara GoodwinCold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
Katharine M JenikeDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.ORCID 0000-0002-7276-8110
Julian LucasGenomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA.
Brandy McNultyGenomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA.
Jimin ParkGenomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA.
Mikko RautiainenGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Arang RhieGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.ORCID 0000-0002-9809-8127
Dick RoelofsKeyGene, 6708 PW Wageningen, Netherlands.
Harrie SchneidersKeyGene, 6708 PW Wageningen, Netherlands.
Ilse VrijenhoekKeyGene, 6708 PW Wageningen, Netherlands.
Koen NijbroekKeyGene, 6708 PW Wageningen, Netherlands.
Olle NordesjoOxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom.
Sergey NurkOxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom.
Mike VellaOxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom.
Katherine R LawrenceOxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom.
Doreen WareCold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
Michael C SchatzDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.ORCID 0000-0002-4118-4446
Erik GarrisonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.ORCID 0000-0003-3821-631X
Sanwen HuangShenzhen Branch, Guangdong Laboratory of Lingnan Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture and Rural Affairs, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen 518120, China.
William Richard McCombieCold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
Karen H MigaGenomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA.ORCID 0000-0001-9709-4565
Alexander H J WittenbergKeyGene, 6708 PW Wageningen, Netherlands.ORCID 0000-0002-0482-2592
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; sergey.koren@nih.gov adam.phillippy@nih.gov.ORCID 0000-0003-2983-8934

Funding

Single-Cell Biology Shared ResourceP30CA045508 · NCI · COLD SPRING HARBOR LABORATORY · PI David A Tuveson · 1987 to 2026
$118.9M
ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
Telomere-to-telomere assemblies of human genomesR01HG011274 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Karen Hayden Miga · 2020 to 2026
$4.5M
The Development and Optimization of Long-Read Sequencing Applications to Cancer Genomics in a Core SettingR50CA243890 · NCI · COLD SPRING HARBOR LABORATORY · PI GOODWIN, SARA · 2019 to 2025
$920k
NCI NIH HHS P30 CA045508NCI NIH HHS R50 CA243890NHGRI NIH HHS R01 HG011274NHGRI NIH HHS U01 HG010971
6 · The paper itself

Abstract

The combination of ultra-long (UL) Oxford Nanopore Technologies (ONT) sequencing reads with long, accurate Pacific Bioscience (PacBio) High Fidelity (HiFi) reads has enabled the completion of a human genome and spurred similar efforts to complete the genomes of many other species. However, this approach for complete, "telomere-to-telomere" genome assembly relies on multiple sequencing platforms, limiting its accessibility. ONT "Duplex" sequencing reads, where both strands of the DNA are read to improve quality, promise high per-base accuracy. To evaluate this new data type, we generated ONT Duplex data for three widely studied genomes: human HG002,

Indexed as

Chromosome MappingNanopore SequencingChromosomes, HumanGenome, HumanSolanum lycopersicumZea mays

Identifiers

PMID39505490
PMCPMC11610574

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.