130 research outputs found

    A Review of Translational Magnetic Resonance Imaging in Human and Rodent Experimental Models of Small Vessel Disease

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    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

    Evaluation of Methods for the Analysis of Untreated and Processed Lignocellulosic Biomasses

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    The overall efficiency of the transformation of lignocellulosic materials to usable products as chemicals and fuels must be governed by adequate analysis of products before and after treatments. Using some promising technologies, lignocelluloses which are biomasses from marine plant and trees, grains, food and non-food crops, and woodbased can give products as fuel alcohol and other chemicals. Various methods of transformation from feedstock to valuable end products are discussed in the scientific literature. Therefore, yields must justify methods used for biomass transformations. As a result, adequate compositional analysis of these processing stages is needed. In this chapter, standard common methods such as gravimetric, chromatography, spectroscopic and their variations for analysis on both untreated and treated lignocelluloses are highlighted. The ease of the use and challenges with recommendations to their applicability to quantifying lignocelluloses fractionations for reproducibility and to be representative are discussed. With biomass technology, virtually all and even more products that can be produced from fossil energy can also be produced from biomass energy. Adequate analysis is therefore necessary
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