Erik N. Bergstrom

TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

TL;DR: The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet- base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

TL;DR: The substantial dataset size compared to previous analyses enabled discovery of new signatures, separation of overlapping signatures and decomposition of signatures into components that may represent associated, but distinct, DNA damage, repair and or replication mechanisms.

TL;DR: The SigProfilerMatrixGenerator tool is the first to provide support for classifying doublet base substitutions and small insertions and deletions, and is also faster and more memory efficient than existing tools that generate only a single matrix.

TL;DR: SigProfilerExtractor is presented, an automated tool for accurate de novo extraction of mutational signatures for all types of somatic mutations and several novel mutational signature including a signature putatively attributed to direct tobacco smoking mutagenesis in bladder cancer and in normal bladder epithelium.