Evidence map›Paper›PMID 36402840›Full record

ArticleNature communications2022

Transposable element-mediated rearrangements are prevalent in human genomes.

Parithi Balachandran, Isha A Walawalkar, Jacob I Flores, Jacob N Dayton, Peter A Audano, Christine R Beck

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed
16.2field-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

65 citing papers in PubMed, 82 citations in OpenAlex.

  1. Article
  2. Machine learning reveals sequence and genomic context features underlyingbioRxiv : the preprint server for biology · 2026
    Article
  3. Review
  4. Article
  5. Chromosomal evolution and speciation inferred from chromosome-scale genome assemblies in three Cupressaceae species.DNA research : an international journal for rapid publication of reports on genes and genomes · 2026
    Article
  6. Article
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  13. Review
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  15. Article
  16. Benchmark for simple and complex genome inversions.bioRxiv : the preprint server for biology · 2025
    Article
  17. Article
  18. Article
  19. Article
  20. Review

5 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

6 authors at 2 institutions in 1 country.

Parithi BalachandranThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0003-3256-1403
Isha A WalawalkarThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Jacob I FloresThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Jacob N DaytonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Peter A AudanoThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-5187-0415
Christine R BeckThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. christine.beck@jax.org.ORCID 0000-0001-7821-8489
Jackson Laboratory · USUniversity of Connecticut · US

Funding

Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9M
Repetitive sequences drive genome variation and plasticityR35GM133600 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Christine R Beck · 2019 to 2026
$3.0M
Mechanisms of Repetitive Element Mediated Genomic RearrangementsR00GM120453 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI BECK, CHRISTINE R · 2018 to 2019
$498k
NCI NIH HHS P30 CA034196NIGMS NIH HHS R00 GM120453NIGMS NIH HHS R35 GM133600
6 · The paper itself

Abstract

Transposable elements constitute about half of human genomes, and their role in generating human variation through retrotransposition is broadly studied and appreciated. Structural variants mediated by transposons, which we call transposable element-mediated rearrangements (TEMRs), are less well studied, and the mechanisms leading to their formation as well as their broader impact on human diversity are poorly understood. Here, we identify 493 unique TEMRs across the genomes of three individuals. While homology directed repair is the dominant driver of TEMRs, our sequence-resolved TEMR resource allows us to identify complex inversion breakpoints, triplications or other high copy number polymorphisms, and additional complexities. TEMRs are enriched in genic loci and can create potentially important risk alleles such as a deletion in TRIM65, a known cancer biomarker and therapeutic target. These findings expand our understanding of this important class of structural variation, the mechanisms responsible for their formation, and establish them as an important driver of human diversity.

Indexed as

DNA Transposable ElementsGenome, HumanDNA Copy Number VariationsGene RearrangementHumansTripartite Motif ProteinsUbiquitin-Protein LigasesDNA Transposable ElementsTRIM65 protein, humanTripartite Motif ProteinsUbiquitin-Protein Ligases

Identifiers

PMID36402840
PMCPMC9675761
OpenAlexW4309665152

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.