Evidence map›Paper›PMID 24939897›Full record

ArticleNucleic acids research2014

The elusive evidence for chromothripsis.

Marcus Kinsella, Anand Patel, Vineet Bafna

Abstract read
In one paragraph

Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing 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

27 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. NAR molecular medicine · 2024
    Article
  5. Article
  6. Review
  7. SDRAP for annotating scrambled or rearranged genomes.NAR genomics and bioinformatics · 2023
    Article
  8. Review
  9. Review
  10. Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Telomere Length Dynamics and the Evolution of Cancer Genome Architecture.International journal of molecular sciences · 2018
    Review
  18. Identifying simultaneous rearrangements in cancer genomes.Bioinformatics (Oxford, England) · 2018
    Article
  19. Review
  20. Modeling cancer rearrangement landscapes.Current opinion in systems biology · 2017
    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

3 authors.

Marcus KinsellaBioinformatics and Systems Biology Program, University of California, San Diego, CA, USA.
Anand PatelDepartment of Computer Science and Engineering, University of California, San Diego, CA, USA adp002@ucsd.edu.
Vineet BafnaDepartment of Computer Science and Engineering, University of California, San Diego, CA, USA.

Funding

VIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DIANE M SIMEONE · 1985 to 2026
$124.9M
iDASH: Integrating Data for Analysis, Anonymization, and SharingU54HL108460 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI OHNO-MACHADO, LUCILA · 2010 to 2015
$19.1M
Project 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7M
Algorithmic strategies for detecting structural variation in genomesR01HG004962 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET · 2009 to 2012
$1.3M
NCI NIH HHS P30 CA023100NHGRI NIH HHS 5R01-HG004962NHLBI NIH HHS U54 HL108460NICHD NIH HHS 1P01HD070494
6 · The paper itself

Abstract

The chromothripsis hypothesis suggests an extraordinary one-step catastrophic genomic event allowing a chromosome to 'shatter into many pieces' and reassemble into a functioning chromosome. Recent efforts have aimed to detect chromothripsis by looking for a genomic signature, characterized by a large number of breakpoints (50-250), but a limited number of oscillating copy number states (2-3) confined to a few chromosomes. The chromothripsis phenomenon has become widely reported in different cancers, but using inconsistent and sometimes relaxed criteria for determining rearrangements occur simultaneously rather than progressively. We revisit the original simulation approach and show that the signature is not clearly exceptional, and can be explained using only progressive rearrangements. For example, 3.9% of progressively simulated chromosomes with 50-55 breakpoints were dominated by two or three copy number states. In addition, by adjusting the parameters of the simulation, the proposed footprint appears more frequently. Lastly, we provide an algorithm to find a sequence of progressive rearrangements that explains all observed breakpoints from a proposed chromothripsis chromosome. Thus, the proposed signature cannot be considered a sufficient proof for this extraordinary hypothesis. Great caution should be exercised when labeling complex rearrangements as chromothripsis from genome hybridization and sequencing experiments.

Indexed as

Chromosome AberrationsChromosome BreakpointsAlgorithmsComputer SimulationModels, Genetic

Identifiers

PMID24939897
PMCPMC4117757

What OpenQuestion holds

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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.