Transcriptome analysis of PBMCs from patients with STAT1 activating mutation

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001006962	The transcriptome of peripheral blood cells (PBMCs) from control or patients with an activation mutation on the STAT1 gene was analyzed. This analysis aimed to identify the major changes in the circulating immune cells of patients with STAT1 mutation and compare this with the result of the perturbation prediction tool huva (human variation, R).	AB 5500xl Genetic Analyzer	6

Publications	Citations
Human variation in population-wide gene expression data predicts gene perturbation phenotype. Bonaguro L, Schulte-Schrepping J, Carraro C, Sun LL, Reiz B, Gemünd I, Saglam A, Rahmouni S, Georges M, Arts P, Hoischen A, Joosten LAB, van de Veerdonk FL, Netea MG, Händler K, Mukherjee S, Ulas T, Schultze JL, Aschenbrenner AC. iScience 25: 2022 105328	1