Evidence map›Paper›PMID 39809899›Full record

ArticleNature genetics2025

Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain.

Ya Cui, Frederick J Arnold, Jason Sheng Li, Jie Wu, Dan Wang, Julien Philippe, Michael R Colwin, Sebastian Michels, Chaorong Chen, Tamer Sallam and 3 more

Abstract read
In one paragraph

Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

15 citing papers in PubMed.

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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

13 authors.

Ya Cui *Division of Computational Biomedicine, Department of Biological Chemistry, University of California, Irvine, Irvine, CA, USA. yac7@uci.edu.ORCID http://orcid.org/0000-0003-1574-0928
Frederick J Arnold *Departments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry, and Neurobiology & Behavior, University of California, Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0003-1927-264X
Jason Sheng LiDivision of Computational Biomedicine, Department of Biological Chemistry, University of California, Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0003-0485-7194
Jie WuDepartments of Psychiatry and Human Behavior, Neurobiology and Behavior, and Biological Chemistry, University of California, Irvine, Irvine, CA, USA.
Dan WangDivision of Cardiology, Department of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-0313-5528
Julien PhilippeDepartments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry, and Neurobiology & Behavior, University of California, Irvine, Irvine, CA, USA.ORCID http://orcid.org/0000-0003-1906-7259
Michael R ColwinDepartments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry, and Neurobiology & Behavior, University of California, Irvine, Irvine, CA, USA.
Sebastian MichelsDepartments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry, and Neurobiology & Behavior, University of California, Irvine, Irvine, CA, USA.
Chaorong ChenDivision of Computational Biomedicine, Department of Biological Chemistry, University of California, Irvine, Irvine, CA, USA.
Tamer SallamDivision of Cardiology, Department of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Leslie M ThompsonDepartments of Psychiatry and Human Behavior, Neurobiology and Behavior, and Biological Chemistry, University of California, Irvine, Irvine, CA, USA. lmthomps@hs.uci.edu.ORCID http://orcid.org/0000-0003-4573-9514
Albert R La SpadaDepartments of Pathology & Laboratory Medicine, Neurology, Biological Chemistry, and Neurobiology & Behavior, University of California, Irvine, Irvine, CA, USA. alaspada@uci.edu.ORCID http://orcid.org/0000-0001-6151-2964
Wei LiDivision of Computational Biomedicine, Department of Biological Chemistry, University of California, Irvine, Irvine, CA, USA. wei.li@uci.edu.ORCID http://orcid.org/0000-0001-9931-5990

Funding

CARCINOGENESIST32CA009054 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI EDINGER, AIMEE L, FRUMAN, DAVID ALEXANDER · 1985 to 2025
$8.6M
La Spada Outstanding Investigator AwardR35NS122140 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI ALBERT R LA SPADA · 2021 to 2026
$7.2M
Computational and Experimental Modeling of Alternative PolyadenylationR01CA193466 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI LI, WEI · 2016 to 2025
$3.3M
Transfer: DNA Methylation Canyons in Human Cancers: Methods, Target Genes and Functional ConsequencesR01CA228140 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI LI, WEI · 2019 to 2023
$2.8M
Computational and Experimental Modeling of Epigenetic DNA MethylationR01HG007538 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI LI, WEI · 2014 to 2018
$1.9M
NCI NIH HHS R01 CA193466NCI NIH HHS R01 CA228140NCI NIH HHS T32 CA009054NHGRI NIH HHS R01 HG007538NINDS NIH HHS R35 NS122140
6 · The paper itself

Abstract

Tandem repeat (TR) size variation is implicated in ~50 neurological disorders, yet its impact on gene regulation in the human brain remains largely unknown. In the present study, we quantified the impact of TR size variation on brain gene regulation across distinct molecular phenotypes, based on 4,412 multi-omics samples from 1,597 donors, including 1,586 newly sequenced ones. We identified ~2.2 million TR molecular quantitative trait loci (TR-xQTLs), linking ~139,000 unique TRs to nearby molecular phenotypes, including many known disease-risk TRs, such as the G

Indexed as

BrainGene Expression RegulationQuantitative Trait LociTandem Repeat SequencesAlzheimer DiseaseAmyotrophic Lateral SclerosisC9orf72 ProteinFemaleGenetic VariationHumansMaleMultiomicsPhenotypeC9orf72 Protein

Identifiers

PMID39809899
PMCPMC13007772

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.