Using single-cell RNA-sequencing (scRNA-seq) of lung tissue, expression quantitative trait loci (eQTLs) were mapped across 38 cell types, revealing both shared and cell-type-specific effects. Highly cell-type-specific disease-interaction eQTLs were linked to cellular dysregulation in lung disease and lung disease risk variants were connected to their regulatory targets in relevant cell types.
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This is a summary of: Natri, H. M. et al. Cell-type-specific and disease-associated expression quantitative trait loci in the human lung. Nat. Genet. https://doi.org/10.1038/s41588-024-01702-0 (2024).
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Identifying regulatory loci across 38 lung cell types. Nat Genet 56, 561–562 (2024). https://doi.org/10.1038/s41588-024-01701-1
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DOI: https://doi.org/10.1038/s41588-024-01701-1
