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Fig. 3 | Genome Biology

Fig. 3

From: deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution

Fig. 3

Specific TCGA patient examples. Comparison of tumor mutational profiles and reconstructed profiles output from deconstructSigs and WTSI Mutational Signature Framework. The reconstructed tumor profiles generated by using the signature weights assigned by the deconstructSigs method and the WTSI Mutational Signature Framework method are given for three tumor samples. a A signature associated with POLE hypermutation, signature 10, was identified in TCGA patient TCGA-D5-6931 using the WTSI Mutational Signature Framework (signature weight = 0.204) but not with deconstructSigs. However, a POLE exonuclease domain mutation was not observed in this patient. b The mutational profile of patient TCGA-67-6215 showed activity of Signature 17 but as this signature was not considered a possible signature extracted in the first step of the WTSI Mutational Signature Framework output, it was only called with deconstructSigs (signature weight = 0.634). c A signature associated with DNA mismatch repair deficiency, signature 6, was identified by deconstructSigs (signature weight = 0.481) in patient TCGA-AN-A0AK but was not identified by the WTSI Mutational Signature Framework. An MSH6 frameshift mutation was identified in TCGA-AN-A0AK indicating the DNA mismatch repair deficiency signature identified is unlikely to be spurious

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