Johanna Bertl

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 authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery that discovers significantly enriched pathways across multiple datasets using statistical data fusion.

TL;DR: The results indicate that NER-deficiency increases the base substitution load twofold in liver but not in small intestinal ASCs, which coincides with the tissue-specific aging pathology observed in these mice.

TL;DR: It is demonstrated that genomic events are at the root of virtually all tumors, with each carrying on average 4.6 driver events, and a whole-genome panorama of driver events across more than 2,500 tumors from 37 types of cancer is obtained.

TL;DR: These analyses redefine the landscape of non-coding driver mutations in cancer genomes, confirming a few previously reported elements and raising doubts about others, while identifying novel candidate elements across 27 cancer types.