Article

Low-usage splice junctions underpin immune-mediated disease risk

2023-06-01

Abstract excerpt

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. 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 24 cellular conditions. We found that genes i...

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Literature Corpus work: 2eed8d1f-bab0-56bf-9779-95937e27739a
DOI: 10.1101/2023.05.29.542728

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