Figure 2.
Somatic signatures in GFI1-36S and -36N leukemic mice and de novo identification of mutational signatures in human GFI1-36N–mutated samples. (A-C) RNA-seq data of BM cells from leukemic GFI1-36S (n = 3) and GFI1-36S (n = 3) mice were analyzed regarding their somatic signatures. (A) The optimal number of signatures is estimated based on silhouette coefficient (black) and L2 error (red). (B) SBS profiles considering the mutated base but also the bases immediately 5′ and 3′ for each signature and (C) signature activities for each sample. (D-E) Human GFI1-36S (n = 1348) and GFI1-36N (n = 182) samples were analyzed for their mutational signatures. (D) Mutational signatures identified in somatically enriched set of variants occurring in coding regions of clinical samples harboring GFI1-36N. (E) Cosine similarity of signatures Sign.01 to Sign.04 to the COSMIC single-base substitution reference set of mutational signatures version 3.3.