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Leveraging cell-type-specific regulatory networks to interpret genetic variants in abdominal aortic aneurysm

20 Dec 2021

Abstract excerpt

family of transcription factors in AAA disease. The analysis of regulatory elements that contain noncoding variants and also are differentially open between AAA patients and controls revealed the significance of the interleukin-6-mediated signaling pathway. This finding was further validated by including information from the deleteriousness effect of nonsynonymous single-nucleotide variants in AAA patients and...

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PMID: 34930827
DOI: 10.1073/pnas.2115601119

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