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Analysis of mutational signatures

JL Jake June-Koo Lee
YJ Youngsook Lucy Jung
TC Taek-Chin Cheong
JV Jose Espejo Valle-Inclan
CC Chong Chu
DG Doga C. Gulhan
VL Viktor Ljungström
HJ Hu Jin
VV Vinayak V. Viswanadham
EW Emma V. Watson
IC Isidro Cortés-Ciriano
SE Stephen J. Elledge
RC Roberto Chiarle
DP David Pellman
PP Peter J. Park
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We calculated the mutational spectra of SNVs and indels using SigProfilerMatrixGenerator59 (v0.1.0) with the SBS-96 and ID-83 classification system. We performed de novo extraction of the mutational signatures, matched them to the reference catalogue, and refitted and validated them using MuSiCal60 (v1.0.0-beta). We used an expanded SBS and ID signatures catalogue described in the MuSiCal manuscript. One ID signature did not match to the ID catalogue but had high similarity to a recently described ID signature commonly observed in people with African ancestry61. We also separately analysed the mutational signatures near the SV breakpoints (Supplementary Fig. 4). In this analysis, the observed SBS mutational spectra were linearly decomposed using SBS1, SBS2, SBS5, SBS13 and SBS18.

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