Evidence map›Paper›PMID 38565144›Full record

ArticleCell genomics2024

Trans-eQTL mapping in gene sets identifies network effects of genetic variants.

Lili Wang, Nikita Babushkin, Zhonghua Liu, Xuanyao Liu

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
12.1field-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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
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  14. Improved chromatin QTL mapping with CACTI.bioRxiv : the preprint server for biology · 2025
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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

4 authors at 2 institutions in 1 country.

Lili WangThe Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA; Department of Medicine, Section of Genetic Medicine, University of Chicago, Chicago, IL 60637, USA.
Nikita BabushkinDepartment of Medicine, Section of Genetic Medicine, University of Chicago, Chicago, IL 60637, USA.
Zhonghua LiuDepartment of Biostatistics, Columbia University, New York, NY 10032, USA.
Xuanyao LiuThe Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA; Department of Medicine, Section of Genetic Medicine, University of Chicago, Chicago, IL 60637, USA; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. Electronic address: xuanyao@uchicago.edu.
University of Chicago · USColumbia University · US

Funding

Statistical Methods to Study the Genetic Basis and Mechanisms of Trans Gene RegulationR35GM138084 · NIGMS · UNIVERSITY OF CHICAGO · PI LIU, XUANYAO · 2020 to 2024
$2.0M
NIGMS NIH HHS R35 GM138084
6 · The paper itself

Abstract

Nearly all trait-associated variants identified in genome-wide association studies (GWASs) are noncoding. The cis regulatory effects of these variants have been extensively characterized, but how they affect gene regulation in trans has been the subject of fewer studies because of the difficulty in detecting trans-expression quantitative loci (eQTLs). We developed trans-PCO for detecting trans effects of genetic variants on gene networks. Our simulations demonstrate that trans-PCO substantially outperforms existing trans-eQTL mapping methods. We applied trans-PCO to two gene expression datasets from whole blood, DGN (N = 913) and eQTLGen (N = 31,684), and identified 14,985 high-quality trans-eSNP-module pairs associated with 197 co-expression gene modules and biological processes. We performed colocalization analyses between GWAS loci of 46 complex traits and the trans-eQTLs. We demonstrated that the identified trans effects can help us understand how trait-associated variants affect gene regulatory networks and biological pathways.

Indexed as

Genome-Wide Association StudyQuantitative Trait LociGene Expression RegulationGene Regulatory NetworksPhenotypegene regulatory network and biological pathwaytrait mechanismtrans gene regulation

Identifiers

PMID38565144
PMCPMC11019359
OpenAlexW4393386120

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.