Evidence map›Paper›PMID 21921916›Full record

ArticleNature2011

Sequence-based characterization of structural variation in the mouse genome.

Binnaz Yalcin, Kim Wong, Avigail Agam, Martin Goodson, Thomas M Keane, Xiangchao Gan, Christoffer Nellåker, Leo Goodstadt, Jérôme Nicod, Amarjit Bhomra and 8 more

Abstract read
In one paragraph

Article in Nature, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 232 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
232citing papers in PubMed, 2 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

232 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
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  9. bioRxiv : the preprint server for biology · 2025
    Article
  10. Low-coverage whole-genome sequencing facilitates accurate and cost-effective haplotype reconstruction in complex mouse crosses.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
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  18. bioRxiv : the preprint server for biology · 2024
    Article
  19. Article
  20. Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Binnaz YalcinThe Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.
Kim Wong
Avigail Agam
Martin Goodson
Thomas M Keane
Xiangchao Gan
Christoffer Nellåker
Leo Goodstadt
Jérôme Nicod
Amarjit Bhomra
Polinka Hernandez-Pliego
Helen Whitley
James Cleak
Rebekah Dutton
Deborah Janowitz
Richard Mott
David J Adams
Jonathan Flint

Funding

Cancer Research UK 13031Medical Research Council G0800024Medical Research Council MC_EX_G0802457Medical Research Council MC_U137761446Wellcome Trust 079912Wellcome Trust 082356Wellcome Trust 090532Wellcome Trust 098051
6 · The paper itself

Abstract

Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 711,920 SVs at 281,243 sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 160,000 SVs were mapped to base pair resolution, allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One-third of the genes so affected have immunological functions.

Indexed as

PhenotypeAnimalsChromosome BreakpointsExonsFemaleGene ExpressionGenetic VariationGenomeGenomicsGenotypeMaleMiceMice, Inbred StrainsMutagenesis, InsertionalQuantitative Trait LociRatsRetroelements

Identifiers

PMID21921916
PMCPMC3428933

What OpenQuestion holds

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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.