Evidence map›Paper›PMID 20877625›Full record

ArticlePloS one2010

Elusive copy number variation in the mouse genome.

Avigail Agam, Binnaz Yalcin, Amarjit Bhomra, Matthew Cubin, Caleb Webber, Christopher Holmes, Jonathan Flint, Richard Mott

Open access · goldAbstract readComparative Study
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
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

16 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
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  8. Article
  9. Review
  10. Article
  11. Article
  12. Copy number variation in the cattle genome.Functional & integrative genomics · 2012
    Review
  13. Next-generation sequencing of experimental mouse strains.Mammalian genome : official journal of the International Mammalian Genome Society · 2012
    Review
  14. Article
  15. Article
  16. 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

8 authors at 1 institution in 1 country.

Avigail AgamWellcome Trust Centre For Human Genetics, Oxford, United Kingdom. agam@well.ox.ac.uk
Binnaz Yalcin
Amarjit Bhomra
Matthew Cubin
Caleb Webber
Christopher Holmes
Jonathan Flint
Richard Mott
Centre for Human Genetics · GB

Funding

Medical Research Council G0500115Medical Research Council MC_U137761446Medical Research Council MC_UP_A390_1107Wellcome Trust 079912
6 · The paper itself

Abstract

backgroundArray comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation. Yet there are large discrepancies between studies, so that the extent of the genome affected by CNVs is unknown. We combined molecular and aCGH analyses of CNVs in inbred mouse strains to investigate this question. PRINCIPAL

findingsUsing a 2.1 million probe array we identified 1,477 deletions and 499 gains in 7 inbred mouse strains. Molecular characterization indicated that approximately one third of the CNVs detected by the array were false positives and we estimate the false negative rate to be more than 50%. We show that low concordance between studies is largely due to the molecular nature of CNVs, many of which consist of a series of smaller deletions and gains interspersed by regions where the DNA copy number is normal.

conclusionsOur results indicate that CNVs detected by arrays may be the coincidental co-localization of smaller CNVs, whose presence is more likely to perturb an aCGH hybridization profile than the effect of an isolated, small, copy number alteration. Our findings help explain the hitherto unexplored discrepancies between array-based studies of copy number variation in the mouse genome.

Indexed as

DNA Copy Number VariationsGene DosageGenomeAnimalsMiceMice, Inbred StrainsPolymorphism, Single Nucleotide

Identifiers

PMID20877625
PMCPMC2943477
OpenAlexW2001238177

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.