ArticleNature genetics2021
A compendium of uniformly processed human gene expression and splicing quantitative trait loci.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 284 papers, 15 of them syntheses that pooled 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.
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.
Who cites it
284 citing papers in PubMed, 15 syntheses or guidelines pooled it, 437 citations in OpenAlex.
- Pooled it
- Global Genetic Variation in Circulating 25-Hydroxyvitamin D: A Systematic Review of GWAS Evidence Across Different Ancestral Groups.Nutrients · 2026Pooled 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
- Multi-layered functional genomics prioritizes candidate effectors and regulatory mechanisms of ankylosing spondylitis.Frontiers in immunology · 2026Pooled it
- Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.The British journal of dermatology · 2025Pooled it
- Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus.Nature communications · 2025Pooled it
- Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.Nature communications · 2025Pooled it
- Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.Nature communications · 2025Pooled it
- Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Pooled it
- Genetic analyses of inflammatory polyneuropathy and chronic inflammatory demyelinating polyradiculoneuropathy identified candidate genes.HGG advances · 2024Pooled it
- Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy.Human reproduction (Oxford, England) · 2023Pooled it
- European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nature communications · 2023Pooled it
- Meta-analysis of genome-wide association studies of gestational duration and spontaneous preterm birth identifies new maternal risk loci.PLoS genetics · 2023Pooled it
- Common Variants onCirculation. Heart failure · 2023Pooled it
- Integrative post-GWAS analysis prioritizes immune regulatory pathways and candidate effector signals in systemic lupus erythematosus.Journal of translational autoimmunity · 2026Article
- Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026Review
- Cell-resolved testing of network-pharmacology candidates in dilated cardiomyopathy: PI3K-AKT-associated transcriptional differences are distributed across cardiac lineages and are not enriched above a genome-wide background.Functional & integrative genomics · 2026Article
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224 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 3 institutions in 3 countries.
Funding
Abstract
Many gene expression quantitative trait locus (eQTL) studies have published their summary statistics, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and co-localization. However, technical differences between these datasets are a barrier to their widespread use. Consequently, target genes for most genome-wide association study (GWAS) signals have still not been identified. In the present study, we present the eQTL Catalogue ( https://www.ebi.ac.uk/eqtl ), a resource of quality-controlled, uniformly re-computed gene expression and splicing QTLs from 21 studies. We find that, for matching cell types and tissues, the eQTL effect sizes are highly reproducible between studies. Although most QTLs were shared between most bulk tissues, we identified a greater diversity of cell-type-specific QTLs from purified cell types, a subset of which also manifested as new disease co-localizations. Our summary statistics are freely available to enable the systematic interpretation of human GWAS associations across many cell types and tissues.
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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 Socratic graph.