Research Article

Cell type–specific genetic regulation of gene expression across human tissues

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Science  11 Sep 2020:
Vol. 369, Issue 6509, eaaz8528
DOI: 10.1126/science.aaz8528

Cell type–specific quantitative trait loci

Understanding how human genetic variation affects phenotype requires tissue- or even cell type–specific measurements. Kim-Hellmuth et al. used computational methods to identify cell-type proportions within bulk tissues in the Genotype-Tissue Expression (GTEx) project dataset to identify cell-type interaction quantitative trait loci and map these to genetic variants correlated with expression or splicing differences between individuals. By characterizing the cellular context, this study illustrates how genetic variants that operate in a cell type–specific manner affect gene regulation and can be linked to complex traits. This deconvolution and analysis of cell types from bulk tissues allows greater precision in understanding how phenotypes are linked to genetic variation.

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