Evidence map›Paper›PMID 36321867›Full record

ArticleBioinformatics (Oxford, England)2023

GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads.

Philip C Dishuck, Allison N Rozanski, Glennis A Logsdon, David Porubsky, Evan E Eichler

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Article
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  4. A global view of human centromere variation and evolution.bioRxiv : the preprint server for biology · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Genome research · 2024
    Article
  9. Article
  10. Article
  11. Independent expansion, selection and hypervariability of thebioRxiv : the preprint server for biology · 2024
    Article
  12. The variation and evolution of complete human centromeres.bioRxiv : the preprint server for biology · 2023
    Article
  13. 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

5 authors.

Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-2223-9787
Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

Funding

Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, CHARLES LEE · 2019 to 2026
$17.2M
Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U24 HG007497NIH HHS
6 · The paper itself

Abstract

motivationHighly contiguous de novo phased diploid genome assemblies are now feasible for large numbers of species and individuals. Methods are needed to validate assembly accuracy and detect misassemblies with orthologous sequencing data to allow for confident downstream analyses.

resultsWe developed GAVISUNK, an open-source pipeline that detects misassemblies and produces a set of reliable regions genome-wide by assessing concordance of distances between unique k-mers in Pacific Biosciences high-fidelity assemblies and raw Oxford Nanopore Technologies reads. AVAILABILITY AND IMPLEMENTATION: GAVISUNK is available at https://github.com/pdishuck/GAVISUNK. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

NanoporesSoftwareGenomeHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNA

Identifiers

PMID36321867
PMCPMC9805576

What OpenQuestion holds

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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.