23 research outputs found

    Pan-cancer analysis of whole genomes

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    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(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 promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

    The distribution of scleractinian corals in the Bay of Biscay, NE Atlantic

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    Studies on the distribution of scleractinian corals in the Bay of Biscay were relatively numerous during the nineteenth and the first half of the twentieth century. Yet, recent reports are scattered, sometimes unpublished, and therefore knowledge about the current coral occurrence in the area is limited. This study aims at compiling the available historical and more recently collected information on the occurrence of scleractinian corals in the Bay of Biscay. Data from two recent cruises are included and compared with previous explored coral sites from as early as 1830 up to 1995. A database of 347 records including 34 described species of scleractinians highlights that the slope of the Bay of Biscay is an important habitat for scleractinians. This could be expected due to the high topographic relief providing the necessary hard substrate and accelerated bottom current flow that corals require. Further exploration of the occurrence and ecology of corals in the area is recommended to support the conservation of cold-water coral reefs along the European margin

    Towards an Ecosystem Approach to Environmental Impact Assessment for Deep-Sea Mining

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    Pulmonary-intestinal cross-talk in mucosal inflammatory disease

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