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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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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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| 3. |
- Meng, Ying, et al.
(författare)
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Hydropower Production Benefits More From 1.5 °C than 2 °C Climate Scenario
- 2020
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Ingår i: Water resources research. - : Blackwell Publishing Ltd. - 0043-1397 .- 1944-7973. ; 56:5
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Tidskriftsartikel (refereegranskat)abstract
- Hydropower plays an important role as renewable and clean energy in the world's overall energy supply. Electricity generation from hydropower represented approximately 16.6% of the world's total electricity and 70% of all renewable electricity in 2015. Determining the different effects of 1.5 and 2 °C of global warming has become a hot spot in water resources research. However, there are still few studies on the impacts of different global warming levels on gross hydropower potential. This study used a coupled hydrological and techno-economic model framework to assess hydropower production under global warming levels of 1.5 and 2 °C, while also considering gross hydropower potential, power consumption, and economic factors. The results show that both global warming levels will have a positive impact on the hydropower production of a tropical island (Sumatra) relative to the historical period; however, the ratio of hydropower production versus power demand provided by 1.5 °C of global warming is 40% higher than that provided by 2 °C of global warming under RCP6.0. The power generation by hydropower plants shows incongruous changing trends with hydropower potential under the same global warming levels. This inconformity occurs because the optimal sites for hydropower plants were chosen by considering not only hydropower potential but also economic factors. In addition, the reduction in CO2 emissions under global warming of 1.5 °C (39.06 × 106 t) is greater than that under global warming of 2 °C (10.20 × 106 t), which reveals that global warming decreases the benefits necessary to relieve global warming levels. However, the hydropower generation and the reduction in CO2 emissions will be far less than the energy demand when protected areas are excluded as potential sites for hydropower plants, with a sharp decrease of 40–80%. Thus, government policy-makers should consider the trade-off between hydropower generation and forest coverage area in nationally determined contributions. © 2020 The Authors.
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| 4. |
- Montazeri, Z, et al.
(författare)
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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer
- 2020
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 69:8, s. 1460-1471
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Tidskriftsartikel (refereegranskat)abstract
- To provide an understanding of the role of common genetic variations in colorectal cancer (CRC) risk, we report an updated field synopsis and comprehensive assessment of evidence to catalogue all genetic markers for CRC (CRCgene2).DesignWe included 869 publications after parallel literature review and extracted data for 1063 polymorphisms in 303 different genes. Meta-analyses were performed for 308 single nucleotide polymorphisms (SNPs) in 158 different genes with at least three independent studies available for analysis. Scottish, Canadian and Spanish data from genome-wide association studies (GWASs) were incorporated for the meta-analyses of 132 SNPs. To assess and classify the credibility of the associations, we applied the Venice criteria and Bayesian False-Discovery Probability (BFDP). Genetic associations classified as ‘positive’ and ‘less-credible positive’ were further validated in three large GWAS consortia conducted in populations of European origin.ResultsWe initially identified 18 independent variants at 16 loci that were classified as ‘positive’ polymorphisms for their highly credible associations with CRC risk and 59 variants at 49 loci that were classified as ‘less-credible positive’ SNPs; 72.2% of the ‘positive’ SNPs were successfully replicated in three large GWASs and the ones that were not replicated were downgraded to ‘less-credible’ positive (reducing the ‘positive’ variants to 14 at 11 loci). For the remaining 231 variants, which were previously reported, our meta-analyses found no evidence to support their associations with CRC risk.ConclusionThe CRCgene2 database provides an updated list of genetic variants related to CRC risk by using harmonised methods to assess their credibility.
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| 6. |
- Wang, Z., et al.
(författare)
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Intelligent Monitoring and Control Technology of Cutting Chatter
- 2020
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Ingår i: Jixie Gongcheng Xuebao/Journal of Mechanical Engineering. - : Chinese Mechanical Engineering Society. - 0577-6686. ; 56:24, s. 1-23
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Tidskriftsartikel (refereegranskat)abstract
- Intelligent monitoring and control technology of cutting chatter is an indispensable part of intelligent machine tools and an important development direction of intelligent machining. It is of great significance to improve machining accuracy and efficiency of parts and increase the operation performance of enterprises. Based on the main line of sensor selection, feature extraction, chatter recognition and chatter suppression, the research progress of intelligent monitoring and control of chatter in cutting process is systematically reviewed. The selection of chatter signal and the methods of feature extraction in time domain, frequency domain, time-frequency domain and feature adaptive intelligent extraction are analyzed. The application of neural network, support vector machine, hidden Markov model, hybrid model and online intelligent evolution mode in chatter recognition are analyzed. The intelligent control method of chatter based on spindle speed variation are emphatically analyzed. On this basis, the research difficulties are analyzed and the existing problems are summarized in intelligent monitoring and control technology of cutting chatter. Finally, the development trend of intelligent monitoring and control technology of cutting chatter is forecasted.
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