Fig. 7: Mutational signature fitting with low numbers of mutations.

Mutational signature contributions were estimated for each patient in 100 randomly drawn catalogs of 2000, 1000, 500, 250, and 100 mutations. Boxplots show median and interquartile range with outliers drawn as dots. A Mutational signature profiles of two example patients (rows), showing the estimated mutational signature contributions (columns). Each data point represents the contribution of a given signature in one randomly drawn mutation set. B Sensitivity and specificity of mmsig to identify SBS-MM1 in MM (left), SBS2 in MM (middle) and SBS9 in CLL (right) when different criteria were applied (color legend). Each data point represents the mean estimated sensitivity or specificity across 100 replicates for a given patient and mutation count.