Evidence map›Paper›PMID 22144907›Full record

ArticlePLoS genetics2011

Repetitive elements may comprise over two-thirds of the human genome.

A P Jason de Koning, Wanjun Gu, Todd A Castoe, Mark A Batzer, David D Pollock

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 633 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
633citing papers in PubMed, 1 pooled it
67.6field-weighted citation impact, top 1% 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

633 citing papers in PubMed, 1 synthesis or guideline pooled it, 1,132 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Disruption of RNA metabolism and its impact on protein homeostasis.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2026
    Review
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  7. Article
  8. LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026
    Review
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  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
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  20. Article

573 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

5 authors at 3 institutions in 1 country.

A P Jason de KoningDepartment of Biochemistry and Molecular Genetics, School of Medicine, University of Colorado, Aurora, Colorado, USA.
Wanjun Gu
Todd A Castoe
Mark A Batzer
David D Pollock
University of Colorado Anschutz Medical Campus · USLouisiana State University · USUniversity of Colorado Denver · US

Funding

Computational Bioscience Program Training GrantT15LM009451 · NLM · UNIVERSITY OF COLORADO DENVER · PI Katherina Kechris-Mays, Arjun Krishnan · 2007 to 2026
$11.7M
POPULATION GENETICS OF MOBILE ELEMENTSR01GM059290 · NIGMS · UNIVERSITY OF UTAH · PI BATZER, MARK A, FESCHOTTE, CEDRIC · 1999 to 2018
$8.5M
Modeling evolution of functional context in proteinsR01GM083127 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI POLLOCK, DAVID D · 2009 to 2019
$2.7M
NIGMS NIH HHS R01 GM059290NIGMS NIH HHS R01 GM083127NIGMS NIH HHS R01 GM59290NLM NIH HHS LM009451NLM NIH HHS T15 LM009451
6 · The paper itself

Abstract

Transposable elements (TEs) are conventionally identified in eukaryotic genomes by alignment to consensus element sequences. Using this approach, about half of the human genome has been previously identified as TEs and low-complexity repeats. We recently developed a highly sensitive alternative de novo strategy, P-clouds, that instead searches for clusters of high-abundance oligonucleotides that are related in sequence space (oligo "clouds"). We show here that P-clouds predicts >840 Mbp of additional repetitive sequences in the human genome, thus suggesting that 66%-69% of the human genome is repetitive or repeat-derived. To investigate this remarkable difference, we conducted detailed analyses of the ability of both P-clouds and a commonly used conventional approach, RepeatMasker (RM), to detect different sized fragments of the highly abundant human Alu and MIR SINEs. RM can have surprisingly low sensitivity for even moderately long fragments, in contrast to P-clouds, which has good sensitivity down to small fragment sizes (∼25 bp). Although short fragments have a high intrinsic probability of being false positives, we performed a probabilistic annotation that reflects this fact. We further developed "element-specific" P-clouds (ESPs) to identify novel Alu and MIR SINE elements, and using it we identified ∼100 Mb of previously unannotated human elements. ESP estimates of new MIR sequences are in good agreement with RM-based predictions of the amount that RM missed. These results highlight the need for combined, probabilistic genome annotation approaches and suggest that the human genome consists of substantially more repetitive sequence than previously believed.

Indexed as

AlgorithmsAlu ElementsComputational BiologyConsensus SequenceDNA Transposable ElementsGenome, HumanHumansLong Interspersed Nucleotide ElementsMolecular Sequence AnnotationRepetitive Sequences, Nucleic AcidSoftwareDNA Transposable Elements

Identifiers

PMID22144907
PMCPMC3228813
OpenAlexW2109293112

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.