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Alice Barnett on Muck Rack

Alice Barnett

As seen in: Nature
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Articles

Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases - Nature Communications

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By María Imaz, Alice Barnett, Carl A. Anderson, Jesse Cheruiyot Rop
| Nature Verified
Abstract Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contexts, such as stimulated immune cells. Here, we used human iPSC-derived macrophages to map eQTLs across 24 cellular conditions. We found that 76% of eQTLs detected in at least one stimulated condition were also found in naive cells.
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Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk - Nature Communications

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By Omar El Garwany, Nikolaos Panousis, Andrew J. Knights, Natsuhiko Kumasaka, María Imaz, Alex Tokolyi, Cristina Martin Verified, Tobi Alegbe, Tim Raine, Alice Barnett, Daniel J Gaffney, Lorena Boquete Vilarino
| Nature Verified
Abstract The majority of immune-mediated disease (IMD) risk loci are located in non-coding regions of the genome, making it difficult to decipher their functional effects in relevant physiological contexts. To assess the extent to which alternative splicing contributes to IMD risk, we mapped genetic variants associated with alternative splicing (splicing quantitative trait loci or sQTL) in macrophages exposed to a wide range of environmental stimuli.
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