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Trans-eQTLs Can Be Used to Identify Tissue-Specific Gene Regulatory Networks

2025· preprint· en· W4411322848 on OpenAlexafffund
Majid Nikpay

Bibliographic record

VenuePreprints.org · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsUniversity of Ottawa
FundersAlliance de recherche numérique du Canada
KeywordsComputational biologyGeneGene regulatory networkBiologyGeneticsComputer scienceGene expression

Abstract

fetched live from OpenAlex

Previous high throughput screening studies indicated trans-eQTLs tend to be tissue specific. In this study, I probed if this feature can be used to find tissue-specific gene regulatory networks. eQTL data for 19,960 genes were obtained from the eQTLGen study. Next, eQTLs that display both cis and trans regulatory effects (P<5e-8) were selected and the association between their corresponding genes were examined by Mendelian randomization. The findings were once more validated using eQTL data from the INTERVAL study. The trans-regulatory impact of 138 genes on 342 genes were detected (P≤5e-8). Majority of the identified gene-pairs aggregated into networks with scale free topology. Examining the function of genes indicated they are involved in immune processes. The hub genes mainly shared transcription regulation activity. On average a gene in the network was under the regulatory control of 34 cis-eQTLs and 6 trans-eQTLs and genes with higher heritability tended to exert higher regulatory impact. This study indicates tissue-specific gene-regulatory networks can be detected by investigating their genomic underpinnings. The identified networks displayed scale-free topology indicating hub genes of a network could be targeted to correct abnormalities at cellular level.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.006
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.011
Threshold uncertainty score0.037

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.006
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0040.003
Science and technology studies0.0000.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0110.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.066
GPT teacher head0.328
Teacher spread0.262 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes2
Has abstractyes

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