Evidence map›Paper›PMID 30674876›Full record

ArticleNature communications2019

Exploring the landscape of focal amplifications in cancer using AmpliconArchitect.

Viraj Deshpande, Jens Luebeck, Nam-Phuong D Nguyen, Mehrdad Bakhtiari, Kristen M Turner, Richard Schwab, Hannah Carter, Paul S Mischel, Vineet Bafna

Abstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 245 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
245citing 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

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

  1. Pooled it
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  15. Examining the role of extrachromosomal DNA in lung cancer.Journal of the National Cancer Institute · 2026
    Article
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185 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

9 authors.

Viraj DeshpandeDepartment of Computer Science and Engineering, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA. virajbdeshpande@gmail.com.ORCID http://orcid.org/0000-0002-4859-9409
Jens LuebeckBioinformatics and Systems Biology Program, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Nam-Phuong D NguyenDepartment of Computer Science and Engineering, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Mehrdad BakhtiariDepartment of Computer Science and Engineering, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0001-9027-9858
Kristen M TurnerLudwig Institute for Cancer Research, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Richard SchwabDepartment of Medicine, Division of Hematology-Oncology, School of Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0002-0488-1226
Hannah CarterDepartment of Medicine, Division of Medical Genetics, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.ORCID http://orcid.org/0000-0002-1729-2463
Paul S MischelLudwig Institute for Cancer Research, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
Vineet BafnaDepartment of Computer Science and Engineering, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA. vbafna@cs.ucsd.edu.ORCID http://orcid.org/0000-0002-5810-6241

Funding

GRADUATE TRAINING PROGRAM IN BIONFORMATICST32GM008806 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET, REN, BING · 2001 to 2020
$6.2M
Refining Mendelian disease analysis via detection of clinically relevant repeat variantsR01HG010149 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Vineet Bafna, Vikas Bansal · 2018 to 2026
$4.5M
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
NHGRI NIH HHS R01 HG010149NIGMS NIH HHS R01 GM114362NIGMS NIH HHS T32 GM008806NIH HHS HG010149NIH HHS R01GM114362NINDS NIH HHS R01 NS073831
6 · The paper itself

Abstract

Focal oncogene amplification and rearrangements drive tumor growth and evolution in multiple cancer types. We present AmpliconArchitect (AA), a tool to reconstruct the fine structure of focally amplified regions using whole genome sequencing (WGS) and validate it extensively on multiple simulated and real datasets, across a wide range of coverage and copy numbers. Analysis of AA-reconstructed amplicons in a pan-cancer dataset reveals many novel properties of copy number amplifications in cancer. These findings support a model in which focal amplifications arise due to the formation and replication of extrachromosomal DNA. Applying AA to 68 viral-mediated cancer samples, we identify a large fraction of amplicons with specific structural signatures suggestive of hybrid, human-viral extrachromosomal DNA. AA reconstruction, integrated with metaphase fluorescence in situ hybridization (FISH) and PacBio sequencing on the cell-line UPCI:SCC090 confirm the extrachromosomal origin and fine structure of a Forkhead box E1 (FOXE1)-containing hybrid amplicon.

Indexed as

Gene AmplificationAlgorithmsCell LineCell Line, TumorChromosome DuplicationChromosomes, HumanComputers, MolecularForkhead Transcription FactorsGenes, ViralHumansIn Situ Hybridization, FluorescenceNeoplasmsForkhead Transcription FactorsFOXE1 protein, human

Identifiers

PMID30674876
PMCPMC6344493

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.