Mutation calling with scRaCH-seq and FLAMES. (A) Dot plot showing the SF3B1 point mutations identified using FLAMES (left panel). After consolidating reads with UMIs, the reads from all the samples were aligned to the GRCh38 reference genome. The size of each dot in the plot corresponds to the proportion of altered transcripts. (B) A graphical representation highlights the precise locations of these high-frequency (>10%) alterations within the SF3B1 gene. The bottom graph shows the frequency of altered SF3B1 transcripts in each sample. (C) Bar plots showing the cells with a SF3B1 K700E mutation (left panel) or transcripts (UMIs) with SF3B1 K700E mutation (right panel) detected by short-read scRNA-seq, long-read scFLT-seq, or long-read scRaCH-seq.
