Figure 1.
Profiles of somatic variants in the bulk tumor population and SC exomes in an index case of amp1q21 MM. (A) VAFs of 46 high-confidence somatic variants in the bulk tumor population exome. (B) Two-way unsupervised clustering using Euclidean distance and complete linkage. Sample T52b (top) is an MM bulk population, and aligned below are representations of SC exome data derived from individual tumor cells. The genotypes (homozygous reference, 0, white [germ line]; heterozygous/homozygous alternative, 1, red [mutation]) of 69 mutations were used as input (high-confidence somatic mutations from the bulk tumor and 2 or more SC exomes). Acquired somatic mutations in tumor cells (red) reveal the span of mutational complexity in SCs not apparent in the bulk tumor population. Forty-nine genotypes were missing as a result of lack of coverage (gray). Genes RNF112 to CBX6 (labeled P1; bottom left) are examples of variants called in the bulk tumor exome but notably absent in many SCs.