https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:45113 Wed 26 Oct 2022 13:33:42 AEDT ]]> Pan-cancer analysis of whole genomes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:46707 1-3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10-18.]]> Tue 29 Nov 2022 11:22:06 AEDT ]]> A Multi-Layer Functional Genomic Analysis to Understand Noncoding Genetic Variation in Lipids https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50411 Tue 25 Jul 2023 17:30:33 AEST ]]> The power of genetic diversity in genome-wide association studies of lipids https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:48599 Tue 04 Apr 2023 19:22:25 AEST ]]> Spatial, temporal, and demographic patterns in prevalence of chewing tobacco use in 204 countries and territories, 1990-2019: A systematic analysis from the Global Burden of Disease Study 2019 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53399 Thu 23 Nov 2023 13:44:14 AEDT ]]> Sex differences in oncogenic mutational processes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:42354 Mon 22 Aug 2022 14:01:38 AEST ]]> Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:53055 Fri 17 Nov 2023 11:47:02 AEDT ]]> Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life Years for 29 Cancer Groups From 2010 to 2019 A Systematic Analysis for the Global Burden of Disease Study 2019 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47334 Fri 13 Jan 2023 11:55:34 AEDT ]]>