Comparison of driver and CH-related mutations between BMPC and ctDNA. (A) Frequency of mutations detected by combined BMPC-seq and ctDNA-seq analyses in RRMM cases (n = 161). Thirty-six genes detected in ≥3 cases are visualized. Reported CH-related genes are shown in blue. (B) Proportion of cases harboring mutations that are BMPC specific (red), ctDNA specific (blue), and detected by both (yellow). Cases with different BMPC-specific and ctDNA-specific mutations were counted as ctDNA-seq–specific. Thirty-six genes detected in ≥3 cases are visualized. (C) Diagonal plots showing mutant allele frequency in BMPC and ctDNA in representative cases. Mutations with a depth of ≥50× in both BMPC-seq and ctDNA-seq are shown; ND, not detected. (D) Comparison of mutant allele frequency between BMPC and ctDNA. An offset of 0.001 was added to each allele frequency before calculating log₂ ratio. Genes with mutation frequency of ≥5% in panel A and/or ctDNA-specific frequency of ≥0.7 in panel B are shown. Other CH consists of ASXL1, SF3B1, and EP300. Two-sided Brunner-Munzel test. (E) Number of mutations for each gene in each case detected by ctDNA-seq (n = 261). Two-sided Fisher exact test.