Figure 2.
Distribution of mutations identified in BM DNA and cfDNA in 70 patients with MDS. Results of the sequencing are shown in the plot, where each column represents a patient and each row represents a gene. The number of mutations identified per patient is represented as columns above the top row. Genes are grouped by function and are in order from the most to the least frequently mutated. Frequencies for each gene are displayed at the right, as well as the mutation type (nonsense, missense, insertion/deletion, splice site or translation start site). Discordant mutations are represented with a square, as shown in the legend: filled squares show mutations only identified in cfDNA and unfilled squares show mutations only identified in BM DNA. Del, deletion; Ins, insertion; SS, start site.