ArticleScience (New York, N.Y.)2020
The GTEx Consortium atlas of genetic regulatory effects across human tissues.
Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3,453 papers, 7 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
3,453 citing papers in PubMed, 7 syntheses or guidelines pooled it, 5,473 citations in OpenAlex.
- GWAS meta-analysis provides new insights into uveal melanoma risk.British journal of cancer · 2026Pooled it
- Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations.Nature human behaviour · 2026Pooled it
- Integration of GWAS and single-cell analysis for psoriasis identifies disease-associated cell subtypes and therapeutic targets.Nature communications · 2026Pooled it
- Multiancestry and Multitrait GWAS Meta-Analysis on Schizophrenia With a Sample of 322,321 Unveils Genetic Links to Chronic Lung Diseases.Genes, brain, and behavior · 2026Pooled it
- Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis.Nature genetics · 2026Pooled it
- Genome-wide meta-analysis of quantitatively measured generalized anxiety symptoms in individuals of European ancestry.Nature human behaviour · 2026Pooled it
- Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders.Nature genetics · 2026Pooled it
- Integrative post-GWAS analysis prioritizes immune regulatory pathways and candidate effector signals in systemic lupus erythematosus.Journal of translational autoimmunity · 2026Article
- Infant respiratory syncytial virus and childhood asthma: a nationwide registry-based, sibling-controlled, and genome-wide association study.The Lancet regional health. Europe · 2026Article
- Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026Review
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- High-Risk Rhabdomyosarcomas Feature a Convergent Cell State.Cancer research · 2026Article
- Genetic evidence supports a cortical neuroprotective role of GLP-1 receptor activation in Alzheimer's disease: A drug-target Mendelian randomization study.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Plasma VGF as a Predictive Biomarker for Early Acute Kidney Injury in Critically Ill Elderly Patients:Saudi medical journal · 2026Article
- Article
- APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease.Nature genetics · 2026Article
- Predicted brain-regional gene expression patterns in individuals living with Alzheimer's disease.Neurobiology of aging · 2026Article
- ASF1A: A versatile histone chaperone bridging chromatin dynamics, disease mechanisms and clinical potential (Review).Experimental and therapeutic medicine · 2026Review
- Suzetrigine as Part of Multimodal Therapy Enables Opioid-Free Recovery after Laparoscopic or Arthroscopic Procedures.Pain and therapy · 2026Article
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.American journal of human genetics · 2026Article
3,393 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author at 3 institutions in 2 countries.
Funding
Abstract
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human 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 OpenQuestion graph.