ArticleNature communications2020
Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 90 papers, 2 of them syntheses that pooled it.
What it found
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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
90 citing papers in PubMed, 2 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Integrating cell-type-specific gene expression and genome-wide associations identifies risk genes for schizophrenia.Molecular psychiatry · 2026Pooled it
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- Firemaster 550 differentially alters gene expression underlying synaptic function in amygdala of prairie voles after gestational or lactational exposure.Neurotoxicology · 2026Article
- Transcriptome Analysis of Hippocampus After Weekly Binge Alcohol Exposure and Voluntary Exercise in Rats.Alcohol, clinical & experimental research · 2026Article
- Identifying causal genetic variants for high-altitude adaptation through blood eQTL analysis in plateau populations.Communications biology · 2026Article
- Aging increases ovarian cancer growth, metastasis, and immunosuppression that can be alleviated by inhibiting hedgehog signaling.bioRxiv : the preprint server for biology · 2026Article
- A scalable framework for single-cell eQTL mapping uncovers genetic regulators of meat production traits in pigs.Journal of animal science and biotechnology · 2026Article
- Identifying Single-Cell Expression Quantitative Trait Loci Using a Bootstrap Penalized Hurdle Model.Genes · 2026Article
- Integration of Bulk and Single-Cell RNA Sequencing Analyses in Biomedicine.International journal of molecular sciences · 2026Review
- Pan-cancer analysis reveals DDIAS as a potential diagnostic biomarker, prognostic indicator, and tumor-immune correlate.Discover oncology · 2026Article
- Associations of polymorphisms in the myeloid immunoregulatory receptor gene MRC1 with expression and prognosis in acute myeloid leukemia.Frontiers in immunology · 2026Article
- Cross-tissue enrichment patterns reveal functional clustering in normal human tissues from GTEx.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- High cell-type specificity of eQTLs revealed by single-nucleus analyses of brain and blood.bioRxiv : the preprint server for biology · 2025Article
- Mapping the landscape of cell type-dependent genetic regulation of DNA methylation across human tissues.Research square · 2025Article
- Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals.Genome biology · 2025Article
- Hepatitis B virus surface antigen drives T cell immunity through non-canonical antigen presentation in mice.Nature communications · 2025Article
- Trans-eQTL hotspots shape complex traits by modulating cellular states.Cell genomics · 2025Article
- Elongation factor 1A1 inhibition elicits changes in lipid droplet size, the bulk transcriptome, and cell type-associated gene expression in MASLD mouse liver.American journal of physiology. Gastrointestinal and liver physiology · 2024Article
- Cognitive resilience to Alzheimer's disease characterized by cell-type abundance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Ribosomes unraveled: The path from variant to impact.Cell genomics · 2024Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell types. Here, using gene expression signatures obtained from mouse cell types, we deconvolute bulk RNA-seq samples from 28 GTEx tissues to quantify cellular composition, which reveals striking heterogeneity across these samples. Conducting eQTL analyses for GTEx liver and skin samples using cell composition estimates as interaction terms, we identify thousands of genetic associations that are cell-type-associated. The skin cell-type associated eQTLs colocalize with skin diseases, indicating that variants which influence gene expression in distinct skin cell types play important roles in traits and disease. Our study provides a framework to estimate the cellular composition of GTEx tissues enabling the functional characterization of human genetic variation that impacts gene expression in cell-type-specific manners.
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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.