10 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

    Criteria and tools for objectively analysing the vocal accuracy of a popular song

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    This study aims to validate our method for measuring accuracy in a melodic context. We analysed the popular song “Happy Birthday” sung by 63 occasional and 14 professional singers thanks to AudioSculpt and OpenMusic (Ircam, Paris, France). In terms of evaluation of the pitch interval deviation, we replicated the profile of occasional singers described in the literature (the slower the performance, the more accurate it is). Our results also confirm that the professional singers sing more accurately than occasional singers but not when a Western operatic singing technique is involved. These results support the relevance of our method for analysing vocal accuracy of occasional and professional singers and led us to discuss adaptations to be implemented for analysing the accuracy of operatic voices

    Survival and fatty acid composition of UV-C treated Staphylococcus aureus

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    Ultraviolet irradiation (UV-C) is proven to be effective to inactivate microorganisms. The present study investigates the effect of sublethal UV-C rays on the membrane fatty acid profile of four Staphylococcus aureus strains isolated from air, patient, food and animal. Our results show that S. aureus isolated from patients and air are the most sensitive to UV-C rays and that their inactivation achieves a greater than 2-log reduction after a UV-C exposure of 210 mJ cm−2. However, the strain isolated from food is the most resistant one. The fatty acid analysis indicates that this strain (food) reveals a decrease of branched chain fatty acids (BCFA iso and anteiso) and an increase of straight chain saturated fatty acids (SCFA)

    Formulation, Delivery and Stability of Bone Morphogenetic Proteins for Effective Bone Regeneration

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    Drug Delivery Technolog

    River Continuity Restoration and Diadromous Fishes: Much More than an Ecological Issue

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