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. 2023 Feb 23;37(5):1080–1091. doi: 10.1038/s41375-023-01857-5

Fig. 2. Transcriptomic analysis of patients carrying putative somatic UBA1 variants in comparison to other MDS patients.

Fig. 2

A UMAP of 816 (752 MDS patients, 64 healthy controls) samples color-coded based on selected co-mutations. B UMAP of 816 (752 MDS patients, 64 healthy controls) samples color-coded based on WHO sub-classification. MDS-EB (MDS with excess blast), MDS del5q (MDS with isolated del(5q)), MDS-RS (MDS with ring sideroblasts), MDS-MLD (MDS with multi-lineage dysplasia), MDS-SLD (MDS with single-lineage dysplasia) (C) GO analysis of upregulated genes of UBA1M41 patients compared to healthy controls. D ssGSEA (single-sample gene set enrichment analysis) scoring of neutrophil activation stratified by selected groups. Wilcoxon rank sum test was used with Benjamini & Hochberg correction. *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001.