ArticleNature genetics2022
Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data.
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 221 papers, 8 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
221 citing papers in PubMed, 8 syntheses or guidelines pooled it, 245 citations in OpenAlex.
- Integration of GWAS and single-cell analysis for psoriasis identifies disease-associated cell subtypes and therapeutic targets.Nature communications · 2026Pooled it
- Integrative GWAS identifies novel loci and genetic links between psychiatric and metabolic factors in anorexia nervosa.Molecular psychiatry · 2026Pooled it
- Investigating the shared genetic architecture between inflammatory bowel disease and pancreatitis: a genome-wide cross-trait analysis.Molecular genetics and genomics : MGG · 2026Pooled it
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- Multi-ancestry genome-wide association meta-analysis identifies candidate genes for computed tomography-based carcass composition traits in pigs.Genetics, selection, evolution : GSE · 2025Pooled it
- Dissecting the Genetic Architecture of Intracranial Aneurysms.Circulation. Genomic and precision medicine · 2025Pooled it
- Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.Biological psychiatry · 2025Pooled it
- Single-cell transcriptome landscape of circulating CD4Cell genomics · 2024Pooled it
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.American journal of human genetics · 2026Article
- Three dimensional reconstruction of the human nucleus accumbens reveals topographic organization and molecular heterogeneity of D1-islands across the anterior posterior axis.bioRxiv : the preprint server for biology · 2026Article
- Polygenic risk scores and plasma proteomics identify cancer-related proteins and trans-regulated protein networks.Cell genomics · 2026Article
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
- Dissecting the cell biology of the ISR in cognitive disorders at the single-cell resolution.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Unraveling the pathogenic mechanisms of osteoarthritis and obesity: An integration of GWAS, cellular specificity, and spatial transcriptomics.Osteoarthritis and cartilage open · 2026Article
- Shared genetic architecture and cellular convergence between female reproductive disorders and pulmonary function: a genome-wide cross-trait analysis.Functional & integrative genomics · 2026Article
- Article
- Multiancestry genome-wide association and multiomics analyses elucidate spatiocellular features of multiple sclerosis genetics.Nature genetics · 2026Article
- Article
- Protein-protein interaction network architecture of human polygenic traits reveals domain-spanning connectivity and evolutionary pressures.Genome biology · 2026Article
- Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
161 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
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an approach that links scRNA-seq with polygenic disease risk at single-cell resolution, independent of annotated cell types. scDRS identifies cells exhibiting excess expression across disease-associated genes implicated by genome-wide association studies (GWASs). We applied scDRS to 74 diseases/traits and 1.3 million single-cell gene-expression profiles across 31 tissues/organs. Cell-type-level results broadly recapitulated known cell-type-disease associations. Individual-cell-level results identified subpopulations of disease-associated cells not captured by existing cell-type labels, including T cell subpopulations associated with inflammatory bowel disease, partially characterized by their effector-like states; neuron subpopulations associated with schizophrenia, partially characterized by their spatial locations; and hepatocyte subpopulations associated with triglyceride levels, partially characterized by their higher ploidy levels. Genes whose expression was correlated with the scDRS score across cells (reflecting coexpression with GWAS disease-associated genes) were strongly enriched for gold-standard drug target and Mendelian disease genes.
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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.