Evidence map›Paper›PMID 35332097›Full record

ArticleGenome research2022

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci.

Elisabeth J van Bree, Rita L F P Guimarães, Mischa Lundberg, Elena R Blujdea, Jimi L Rosenkrantz, Fred T G White, Josse Poppinga, Paula Ferrer-Raventós, Anne-Fleur E Schneider, Isabella Clayton and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
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  8. Widespread transposable element dysregulation in human aging brains with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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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

16 authors at 5 institutions in 3 countries.

Elisabeth J van Bree *Evolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Rita L F P Guimarães *Evolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Mischa LundbergMater Research Institute-University of Queensland, Woolloongabba, QLD 4102, Australia.
Elena R BlujdeaEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Jimi L RosenkrantzEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Fred T G WhiteEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Josse PoppingaEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Paula Ferrer-RaventósEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Anne-Fleur E SchneiderEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Isabella ClaytonEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
David HausslerUC Santa Cruz Genomics Institute, and Howard Hughes Medical Institute, UC Santa Cruz, Santa Cruz, California 95064, USA.
Marcel J T ReindersDelft Bioinformatics Lab, Delft University of Technology, 2628 XE Delft, The Netherlands.
Henne HolstegeGenomics of Neurodegenerative Diseases and Aging, Department of Human Genetics, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, 1081 HV Amsterdam, The Netherlands.ORCID 0000-0002-7688-3087
Adam D EwingMater Research Institute-University of Queensland, Woolloongabba, QLD 4102, Australia.
Colette MosesEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.
Frank M J JacobsEvolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, 1098 XH Amsterdam, The Netherlands.ORCID 0000-0003-4423-1479
Netherlands Institute for Neuroscience · NLThe University of Queensland · AUAmsterdam Neuroscience · NLDelft University of Technology · NLHoward Hughes Medical Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have been highly informative in discovering disease-associated loci but are not designed to capture all structural variations in the human genome. Using long-read sequencing data, we discovered widespread structural variation within SINE-VNTR-

Indexed as

DNA Transposable ElementsGenome-Wide Association StudyAlu ElementsGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansPolymorphism, Single NucleotideQuantitative Trait LociDNA Transposable Elements

Identifiers

PMID35332097
PMCPMC8997352
OpenAlexW4220719451

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.