Extended Data Fig. 10: Single-cell transcriptome and copy-number analysis of RS patients.
From: Evolutionary history of transformation from chronic lymphocytic leukemia to Richter syndrome
a, UMAP visualization of single-cells from patient 4 (left) with associated allelic copy-number ratio plot inferred by CNVsingle (top right) and RS WES (bottom right). b, UMAP visualization of CLL and RS cells from Patient 18 (left top panel) with flow-sorting annotations (right top panel). Inferred CNAs from CNVSingle (bottom panel) are shown as heatmap with CLL (green) and RS (pink) events highlighted. c, UMAP visualization of CLL and RS cells from Patient 41 (left top panel) with flow-sorting annotations (right top panel). Inferred CNAs from CNVSingle (bottom panel) with CLL (green) and RS (pink) events highlighted. d, Plasma of patient 44 shows RS-specific sCNVs on chromosome 9 and 13 leading up to RS diagnosis, which are not reflected in circulating CLL e, Plasma of patient 99 at the start of CLL-directed therapy (top) and just ahead of diagnosis of RS (bottom) during CLL response. f, Chromothripsis in post-transplant RS plasma cfDNA at time of relapse (Pt 112). g, Plot showing allele frequency of RS (purple) and CLL (green) mutations in RS WES (bottom) and plasma cfDNA WES (top) for patient 5 (top) and patient 44 (bottom).
