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• W4294051824 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. scDRS associates individual cells in scRNA-seq with disease by scoring single-cell transcriptomes using GWAS gene signatures. Applied to 74 GWAS and 1.3 million single-cell profiles, scDRS identifies specific cellular subpopulations associated with these diseases." @default.
• W4294051824 created "2022-09-01" @default.
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• W4294051824 date "2022-09-01" @default.
• W4294051824 modified "2023-10-16" @default.
• W4294051824 title "Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data" @default.
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• W4294051824 doi "https://doi.org/10.1038/s41588-022-01167-z" @default.
• W4294051824 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36050550" @default.
• W4294051824 hasPublicationYear "2022" @default.
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