Fig. 6. Mutational signature analyses of validated de novo SNVs in IRASFS families.

Decomposition and fitting analyses of the de novo SBS mutational signature (SBS96A Original) extracted by SigProfilerExtractor from the validated de novo SNVs using: A COSMIC SBS signatures; B human germline mutational signatures; and C mutational signatures from targeted CRISPR-Cas9 Knockouts of DNA repair genes in human iPSCs. For each mutational signature dataset, the left panel shows the extracted signature, the fitted signatures with their percent contribution, and the reconstructed signature with the cosine similarity value; the tile plot on the right reports a visual representation of the identified proportion of each signature and its etiology/annotation.