Extended Data Fig. 3: Proportion of cells captured in scRNA-seq and regulated genes.

a. Proportion of reads mapped to target genes in long read sequencing. b. Expression of cell type specific markers shown in Featureplots. c. Relative abundance of cells with coverage at patient-respective DNMT3A-mutation sites. d. Enrichment plot of mutated cells compared to wild type cell with distribution by class (each dot represents an individual sample, with the fill pattern of the dot representing a specific sample across the different cell types). e. Neighborhood distribution analysis by Milo. The Nodes represent the detected neighborhoods by MILO, which are colored by their log fold change between mutated and WT samples. Non-differential abundance neighborhoods (FDR 10%) are colored white, and sizes correspond to the number of cells in a neighborhood. Number of cells shared between adjacent neighborhoods are shown by the graph edges. The node position is set by the position of the neighborhood defining cells in the UMAP representation (left). f/g. Number of upregulated genes in DNMT3A mutant cells versus wild type cells by immune cell class (f) using all cells and (g) when down-sampling to the number of NK cells (that is 1599 cells per cell type). (Panels a-g: n = 5 for relative mutation analysis and pooled differential gene expression analysis. Panel d: data show means of each processed library ± SEM).