Rosa Karlic

TL;DR: It is shown that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease.

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: It is found that histone modification levels and gene expression are very well correlated, and it is shown that only a small number of histone modifications are necessary to accurately predict gene expression.

TL;DR: It is shown that chromatin accessibility and modification, together with replication timing, explain up to 86% of the variance in mutation rates along cancer genomes, and that the cell type of origin of a cancer can be accurately determined based on the distribution of mutations along its genome.

TL;DR: It is established that germline nonsense and frameshift variants in PALB2, but not in ATM or CHEK2, can also give rise to the same signature and epigenetic silencing of RAD51C and BRCA1 by promoter methylation is strongly associated with signature 3.