Evidence map›Paper›PMID 32873787›Full record

ArticleNature communications2020

AmpliconReconstructor integrates NGS and optical mapping to resolve the complex structures of focal amplifications.

Jens Luebeck, Ceyda Coruh, Siavash R Dehkordi, Joshua T Lange, Kristen M Turner, Viraj Deshpande, Dave A Pai, Chao Zhang, Utkrisht Rajkumar, Julie A Law and 2 more

Abstract readValidation Study
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 1 pooled it
–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

65 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Targeting extrachromosomal DNA in human cancers.Nature reviews. Drug discovery · 2026
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Review
  20. Article

5 more citing papers are in PubMed but not listed here.

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

12 authors.

Jens LuebeckBioinformatics and Systems Biology Graduate Program, University of California at San Diego, La Jolla, CA, 92093, USA.
Ceyda CoruhPlant Molecular and Cellular Biology Laboratory, Salk Institute for Biological Studies, La Jolla, CA, 92037, USA.
Siavash R DehkordiDepartment of Computer Science and Engineering, University of California at San Diego, La Jolla, CA, 92093, USA.
Joshua T LangeBiomedical Sciences Graduate Program, University of California at San Diego, La Jolla, CA, 92093, USA.
Kristen M TurnerLudwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA, 92093, USA.
Viraj DeshpandeDepartment of Computer Science and Engineering, University of California at San Diego, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0002-4859-9409
Dave A PaiBionano Genomics, Inc., San Diego, CA, 92121, USA.
Chao ZhangBioinformatics and Systems Biology Graduate Program, University of California at San Diego, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0002-4222-9968
Utkrisht RajkumarDepartment of Computer Science and Engineering, University of California at San Diego, La Jolla, CA, 92093, USA.
Julie A LawPlant Molecular and Cellular Biology Laboratory, Salk Institute for Biological Studies, La Jolla, CA, 92037, USA.ORCID http://orcid.org/0000-0001-7472-7753
Paul S MischelLudwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0002-4560-2211
Vineet BafnaDepartment of Computer Science and Engineering, University of California at San Diego, La Jolla, CA, 92093, USA. vbafna@cs.ucsd.edu.

Funding

VIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Jesse Nodora · 1985 to 2026
$124.9M
U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0M
TrainingP41GM103484 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BANDEIRA, NUNO · 2012 to 2018
$8.7M
GRADUATE TRAINING PROGRAM IN BIONFORMATICST32GM008806 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET, REN, BING · 2001 to 2020
$6.2M
CENTER FOR COMPUTATIONAL MASS-SPECTROMETRYP41RR024851 · NCRR · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PEVZNER, PAVEL A · 2008 to 2011
$5.2M
The role of mTORC2 in reprogramming cancer cell metabolismR01NS073831 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MISCHEL, PAUL S · 2011 to 2020
$3.4M
Computational methods for detecting patterns of complex genomic variationR01GM114362 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna · 2016 to 2026
$3.1M
NCI NIH HHS P30 CA023100NCRR NIH HHS P41 RR024851NIGMS NIH HHS P41 GM103484NIGMS NIH HHS R01 GM114362NIGMS NIH HHS T32 GM008806NINDS NIH HHS P30 NS047101NINDS NIH HHS R01 NS073831
6 · The paper itself

Abstract

Oncogene amplification, a major driver of cancer pathogenicity, is often mediated through focal amplification of genomic segments. Recent results implicate extrachromosomal DNA (ecDNA) as the primary driver of focal copy number amplification (fCNA) - enabling gene amplification, rapid tumor evolution, and the rewiring of regulatory circuitry. Resolving an fCNA's structure is a first step in deciphering the mechanisms of its genesis and the fCNA's subsequent biological consequences. We introduce a computational method, AmpliconReconstructor (AR), for integrating optical mapping (OM) of long DNA fragments (>150 kb) with next-generation sequencing (NGS) to resolve fCNAs at single-nucleotide resolution. AR uses an NGS-derived breakpoint graph alongside OM scaffolds to produce high-fidelity reconstructions. After validating its performance through multiple simulation strategies, AR reconstructed fCNAs in seven cancer cell lines to reveal the complex architecture of ecDNA, a breakage-fusion-bridge and other complex rearrangements. By reconstructing the rearrangement signatures associated with an fCNA's generative mechanism, AR enables a more thorough understanding of the origins of fCNAs.

Indexed as

Gene AmplificationCell Line, TumorChromosome MappingCytogenetic AnalysisGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansNeoplasmsOncogenes

Identifiers

PMID32873787
PMCPMC7463033

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.