scRNA-seq reveals distinct cell type profiles in CH. (A) Cells from 17 patients with CH and 7 controls were processed via scRNA-seq. Mutational lineage tracing was performed to link genomic variants to scRNA-seq results. (B) UpSet plot displaying CH mutations for each patient with accompanying dot plot showing variant allele frequency for each mutation. Color corresponds to mutational group. Dots correspond to mutations, so patients with multiple CH mutations have separate dots for each mutation. (C) UMAP displaying cell type clusters, as defined by unsupervised clustering. Clusters were annotated using ScType. (D) Radar plot showing cell type proportions for controls, patients with TET2 mutations, and patients with DNMT3A mutations. NK cell, natural killer cell.