Science
Cell type–specific genetic regulation of gene expression across human tissues – Science Magazine
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)…
The Genotype-Tissue Expression (GTEx) project (1) and other studies (25) have shown that genetic regulation of the transcriptome is widespread. The GTEx Consortium in particular has built an extensive catalog of expression and splicing quantitative trait loci in cis (cis-eQTLs and cis-sQTLs, respectively) across a large range of tissues, showing that these cis-eQTLs and cis-sQTLs (collectively referred to here as QTLs) are generally either highly tissue specific or widely shared, even across dis…
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