ArticlePLoS genetics2023
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
Article in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 4 of them syntheses that pooled it.
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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.
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.
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Who cites it
44 citing papers in PubMed, 4 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Pooled it
- Genome-wide association study reveals a novel tuberculosis susceptibility locus in multiple East Asian and European populations.Genome medicine · 2026Pooled it
- Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.Human molecular genetics · 2026Pooled it
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- OmicsPred as a centralized resource for genetic prediction of multi-omic traits.Nature genetics · 2026Article
- Scalable context-dependent single-cell eQTL mapping reveals disease-relevant regulatory variation beyond static models.medRxiv : the preprint server for health sciences · 2026Article
- SNPannotator: automated functional annotation of genetic variants and linked proxies.Bioinformatics (Oxford, England) · 2026Article
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- From GWAS Signals to Molecular Mechanisms: Explainable AI for Causal Gene Prioritization and Biomolecular Target Interpretation.Biomolecules · 2026Review
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.American journal of human genetics · 2026Article
- Cardiovascular Genetic Epidemiology in the Genome-Wide Era: From Association Discovery to Mechanistic Dissection and Clinical Translation.Cardiovascular drugs and therapy · 2026Review
- Integrative Single-Cell Transcriptomic, Mendelian Randomization and In Silico Perturbation Analyses Prioritize MUC20 as a Candidate Gene Associated with Osteoporosis and Metabolic Dysfunction-Associated Steatotic Liver Disease in the Liver-Bone Axis.International journal of molecular sciences · 2026Article
- OmicsPred as a centralised resource for genetic prediction of multi-omic traits.medRxiv : the preprint server for health sciences · 2026Article
- Ultra-fast genetic colocalisation across millions of association signals.PLoS genetics · 2026Article
- Design and interpretation of eQTL-GWAS colocalisation studies: Lessons from a large-scale evaluation.PLoS genetics · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.American journal of human genetics · 2026Article
- Single-Cell eQTL Revealing Brain Cell-Type-Specific Genetic Control of Insomnia.Journal of molecular neuroscience : MN · 2026Article
- EMBL's European Bioinformatics Institute (EMBL-EBI) in 2025.Nucleic acids research · 2026Review
- The IGVF catalog-from genetic variation to function.Nucleic acids research · 2026Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The eQTL Catalogue is an open database of uniformly processed human molecular quantitative trait loci (QTLs). We are continuously updating the resource to further increase its utility for interpreting genetic associations with complex traits. Over the past two years, we have increased the number of uniformly processed studies from 21 to 31 and added X chromosome QTLs for 19 compatible studies. We have also implemented Leafcutter to directly identify splice-junction usage QTLs in all RNA sequencing datasets. Finally, to improve the interpretability of transcript-level QTLs, we have developed static QTL coverage plots that visualise the association between the genotype and average RNA sequencing read coverage in the region for all 1.7 million fine mapped associations. To illustrate the utility of these updates to the eQTL Catalogue, we performed colocalisation analysis between vitamin D levels in the UK Biobank and all molecular QTLs in the eQTL Catalogue. Although most GWAS loci colocalised both with eQTLs and transcript-level QTLs, we found that visual inspection could sometimes be used to distinguish primary splicing QTLs from those that appear to be secondary consequences of large-effect gene expression QTLs. While these visually confirmed primary splicing QTLs explain just 6/53 of the colocalising signals, they are significantly less pleiotropic than eQTLs and identify a prioritised causal gene in 4/6 cases.
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Registered trials
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.