Fig. 6
From: Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma
Whole-exome sequencing of matched cfDNA and BM tumor samples. a Presence of clonal (navyblue) and subclonal (yellow) somatic mutations in BM and cfDNA WES is presented. Mutations that were not detected with ≥0.9 detection power are shown in snow, and mutation sites with <0.9 detection power are shown in gray. MM and actionable pan-cancer related genes and purity of each sample are indicated. b Left Venn diagram shows the number of clonal mutations that were present in bone marrow biopsies (green) and confirmed in cfDNA samples (orange). Right Venn diagram shows the number of clonal mutations that were present in cfDNA samples (orange) and confirmed in bone marrow biopsies (green). c Cancer cell fraction (CCF) for clusters of SSNVs detected in bone marrow and cfDNA samples from the same MM patient. Mutations were clustered by CCF for each pair of samples using a PHYLOGIC. Clonal (navyblue) SSNVs were defined as events having ≥0.9 CCF in both samples. Subclonal (yellow) SSNVs were defined as events having <0.9 CCF in samples. Size of circles indicated the fraction of SSNVs. Mutations having ≥0.9 detection power in both samples are shown and clusters with <3 mutations are excluded
