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Article

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

17 Jun 2024

Abstract excerpt

IFN-signaling gene (ISG) expression scores are potential markers of inflammation with significance from cancer to genetic syndromes. In Aicardi Goutières Syndrome (AGS), a disorder of abnormal DNA and RNA metabolism, this score has potential as a diagnostic biomarker, although the approach to ISG calculation has not been standardized or validated. To optimize ISG calculation and validate ISG as a diagnostic...

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PMID: 38885315
DOI: 10.1172/jci.insight.178456

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