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Identifying regulatory loci across 38 lung cell types

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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Fig. 1: Mapping eQTLs across cell types in the human lung.


  1. Allen, R. J. et al. Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 201, 564–574 (2020). This paper reports a genome-wide meta-analysis across five genome-wide association studies of idiopathic pulmonary fibrosis risk.

    Article  CAS  PubMed  Google Scholar 

  2. Zhang, J. & Zhao, H. Expression quantitative trait locus studies in the era of single-cell omics. Front. Genet. 14, 1182579 (2023). A review article that presents current and future opportunities for eQTL studies.

    Article  Google Scholar 

  3. Fabo, T. & Khavari, P. Functional characterization of human genomic variation linked to polygenic diseases. Trends Genet. 39, 462–490 (2023). A review article that presents recent advances in the functional characterization of trait-associated variants.

    Article  CAS  PubMed  Google Scholar 

  4. Urbut, S. M., Wang, G., Carbonetto, P. & Stephens, M. Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions. Nat. Genet. 51, 187–195 (2019). A paper that presents a statistical method for analyzing data sets that measure many effects in many conditions.

    Article  CAS  PubMed  Google Scholar 

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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. (2024).

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Identifying regulatory loci across 38 lung cell types. Nat Genet 56, 561–562 (2024).

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