Marta Paczkowska

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 largest investigation of predisposition variants in cancer to date finds 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types, informing future guidelines of variant classification and germline genetic testing in cancer.

TL;DR: ActivePathways as mentioned in this paper is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes, which improves systems-level understanding of cellular organization in health and disease through integration of multiple molecular datasets and pathway annotations.

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: Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations, and ActiveDriverDB is a comprehensive human proteo-genomics database that annotates disease mutations and population variants through the lens of PTMs.