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Sökning: WFRF:(Shriver Thomas)

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1.
  • Campbell, PJ, et al. (författare)
  • Pan-cancer analysis of whole genomes
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
  • Tidskriftsartikel (refereegranskat)abstract
    • Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. 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.
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  • Szabo, Adriana, et al. (författare)
  • Environmental threats and activism against extractive industries: The case of gold mining in Rosia Montană, Romania
  • 2022
  • Ingår i: Journal of Rural Studies. - : Elsevier BV. - 0743-0167 .- 1873-1392. ; 92, s. 26-34
  • Tidskriftsartikel (refereegranskat)abstract
    • Extractive industries often promise prosperity to less economically developed regions of the world. However, projects that rely on extractive industries such as mining often pose significant environmental threats to the host regions. The tension between economic promises and environmental impacts can spark significant conflict in rural communities. This study analyzes a proposed mining project in Roșia Montană, Romania, which pitted pro-mining proponents against local residents and activists. The data from this project come from in-depth interviews, company and NGO documents and extensive newspaper coverage of the proposed mine. The research examines how political threats can exacerbate environmental threats in cases of rural protest movements, as well as how the confluence of opportunities and threats shaped resistance to the proposed mine. Findings indicate that environmental threats can serve as a powerful mobilizing force in opposing risky development projects, even in economically depressed regions.
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