Fig. 7.

Somatic mutations and copy number alterations in matched cfDNA, CTCs, and BM tumor samples. a The alteration status of MM and actionable pan-cancer mutations and focal SCNAs are shown for bone marrow biopsies, cfDNA, and CTC samples from same MM patients. Hotspot mutation (black), missense mutation (green), nonsense mutation (purple), gain (red), and loss (blue) are indicated for specific SSNVs and SCNAs. Mutations that were not detected with ≥0.9 detection power (snow) and mutations with <0.9 detection power (gray) are distinguished in this figure. b The alteration status of MM and actionable pan-cancer mutations and focal SCNAs are shown for bone marrow biopsies and cfDNA samples from same MM patients. Hotspot mutation (black), missense mutation (green), nonsense mutation (purple), gain (red), and loss (blue) were indicated for specific SSNVs and SCNAs. Mutations that were not detected with ≥0.9 detection power (snow) and mutations with <0.9 detection power (gray) are distinguished in this figure. Mutations were predicted using Mutect and SCNAs were predicted using ReCapSeg