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Sökning: WFRF:(Hummel O)

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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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  • Gerkin, RC, et al. (författare)
  • The best COVID-19 predictor is recent smell loss: a cross-sectional study
  • 2020
  • Ingår i: medRxiv : the preprint server for health sciences. - : Cold Spring Harbor Laboratory.
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • BackgroundCOVID-19 has heterogeneous manifestations, though one of the most common symptoms is a sudden loss of smell (anosmia or hyposmia). We investigated whether olfactory loss is a reliable predictor of COVID-19.MethodsThis preregistered, cross-sectional study used a crowdsourced questionnaire in 23 languages to assess symptoms in individuals self-reporting recent respiratory illness. We quantified changes in chemosensory abilities during the course of the respiratory illness using 0-100 visual analog scales (VAS) for participants reporting a positive (C19+; n=4148) or negative (C19-; n=546) COVID-19 laboratory test outcome. Logistic regression models identified singular and cumulative predictors of COVID-19 status and post-COVID-19 olfactory recovery.ResultsBoth C19+ and C19-groups exhibited smell loss, but it was significantly larger in C19+ participants (mean±SD, C19+: -82.5±27.2 points; C19-: -59.8±37.7). Smell loss during illness was the best predictor of COVID-19 in both single and cumulative feature models (ROC AUC=0.72), with additional features providing negligible model improvement. VAS ratings of smell loss were more predictive than binary chemosensory yes/no-questions or other cardinal symptoms, such as fever or cough. Olfactory recovery within 40 days was reported for ∼50% of participants and was best predicted by time since illness onset.ConclusionsAs smell loss is the best predictor of COVID-19, we developed the ODoR-19 tool, a 0-10 scale to screen for recent olfactory loss. Numeric ratings ≤2 indicate high odds of symptomatic COVID-19 (4<OR<10), which can be deployed when viral lab tests are impractical or unavailable.
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  • Islar, Mine, et al. (författare)
  • Diverse values of nature for sustainability
  • 2022
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 620, s. 813-823
  • Tidskriftsartikel (refereegranskat)abstract
    • Twenty-five years since foundational publications on valuing ecosystem services for human well-being1,2, addressing the global biodiversity crisis3 still implies confronting barriers to incorporating nature’s diverse values into decision-making. These barriers include powerful interests supported by current norms and legal rules such as property rights, which determine whose values and which values of nature are acted on. A better understanding of how and why nature is (under)valued is more urgent than ever4. Notwithstanding agreements to incorporate nature’s values into actions, including the Kunming-Montreal Global Biodiversity Framework (GBF)5 and the UN Sustainable Development Goals6, predominant environmental and development policies still prioritize a subset of values, particularly those linked to markets, and ignore other ways people relate to and benefit from nature7. Arguably, a ‘values crisis’ underpins the intertwined crises of biodiversity loss and climate change8, pandemic emergence9 and socio-environmental injustices10. On the basis of more than 50,000 scientific publications, policy documents and Indigenous and local knowledge sources, the Intergovernmental Platform on Biodiversity and Ecosystem Services (IPBES) assessed knowledge on nature’s diverse values and valuation methods to gain insights into their role in policymaking and fuller integration into decisions7,11. Applying this evidence, combinations of values-centred approaches are proposed to improve valuation and address barriers to uptake, ultimately leveraging transformative changes towards more just (that is, fair treatment of people and nature, including inter- and intragenerational equity) and sustainable futures.
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  • Baud, A, et al. (författare)
  • Genomes and phenomes of a population of outbred rats and its progenitors
  • 2014
  • Ingår i: Scientific data. - : Springer Science and Business Media LLC. - 2052-4463. ; 1, s. 140011-
  • Tidskriftsartikel (refereegranskat)abstract
    • Finding genetic variants that contribute to phenotypic variation is one of the main challenges of modern genetics. We used an outbred population of rats (Heterogeneous Stock, HS) in a combined sequence-based and genetic mapping analysis to identify sequence variants and genes contributing to complex traits of biomedical relevance. Here we describe the sequences of the eight inbred progenitors of the HS and the variants that segregate between them. We report the genotyping of 1,407 HS rats, and the collection from 2,006 rats of 195 phenotypic measures that are relevant to models of anxiety, type 2 diabetes, hypertension and osteoporosis. We make available haplotype dosages for the 1,407 genotyped rats, since genetic mapping in the HS is best carried out by reconstructing each HS chromosome as a mosaic of the progenitor genomes. Finally, we have deposited an R object that makes it easy to incorporate our sequence data into any genetic study of HS rats. Our genetic data are available for both Rnor3.4 and Rnor5.0 rat assemblies.
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  • Bearden, IG, et al. (författare)
  • Deuteron and triton production with high energy sulphur and lead beams
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 23:2, s. 237-247
  • Tidskriftsartikel (refereegranskat)abstract
    • Proton and deuteron production has been observed in S+S and S+Pb collisions at 200 A-GeV and in Pb+Pb reactions at 158 A-GeV at the CERN SPS accelerator. For Pb+Pb triton production was also measured. The p and d spectra as well as the p and t spectra were observed in similar rapidity ranges and over similar ranges of transverse momenta per nucleon, making it possible to interpret the cross sections of the composite particles in terms of coalescence mechanisms. Volumes of homogeneity were extracted and compared to pion-pair HBT interferometry results. Special attention is given to the dependence on transverse mass, centrality and rapidity.
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  • Bearden, IG, et al. (författare)
  • Particle production in central Pb+Pb collisions at 158A GeV/c
  • 2002
  • Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 66:4
  • Tidskriftsartikel (refereegranskat)abstract
    • The NA44 experiment has measured single-particle inclusive spectra for charged pions, kaons, and protons as a function of transverse mass near midrapidity in 158A GeV/c Pb+Pb collisions. From the particle mass dependence of the observed m(T) distributions, we are able to deduce a value of about 120 MeV for the temperature at thermal freeze-out. From the observed ratios of the rapidity densities, we find values of the chemical potentials for light and strange quarks and a chemical freeze-out temperature of approximately 140 MeV.
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  • Hedman, Linnea, et al. (författare)
  • Receiving support to quit smoking and quit attempts among smokers with and without smoking related diseases : Findings from the EUREST-PLUS ITC Europe Surveys
  • 2018
  • Ingår i: Tobacco Induced Diseases. - Heraklion : European Publishing. - 1617-9625. ; 16
  • Tidskriftsartikel (refereegranskat)abstract
    • INTRODUCTION Having a chronic disease either caused or worsened by tobacco smoking does not always translate into quitting smoking. Although smoking cessation is one of the most cost-effective medical interventions, it remains poorly implemented in healthcare settings. The aim was to examine whether smokers with chronic and respiratory diseases were more likely to receive support to quit smoking by a healthcare provider or make a quit attempt than smokers without these diseases.METHODS This population-based study included a sample of 6011 adult smokers in six European countries. The participants were interviewed face-to-face and asked questions on sociodemographic characteristics, current diagnoses for chronic diseases, healthcare visits in the last 12 months and, if so, whether they had received any support to quit smoking. Questions on smoking behavior included nicotine dependence, motivation to quit smoking and quit attempts in the last 12 months. The results are presented as weighted percentages with 95% confidence intervals (CI) and as adjusted odds ratios with 95% CI based on logistic regression analyses.RESULTS Smokers with chronic respiratory disease, those aged 55 years and older, as well as those with one or more chronic diseases were more likely to receive smoking cessation advice from a healthcare professional. Making a quit attempt in the last year was related to younger age, high educational level, higher motivation to quit, lower nicotine dependence and having received advice to quit from a healthcare professional but not with having chronic diseases. There were significant differences between countries with smokers in Romania consistently reporting more support to quit as well as quit attempts.CONCLUSIONS Although smokers with respiratory disease did indeed receive smoking cessation support more often than smokers without disease, many smokers did not receive any advice or support to quit during a healthcare visit.
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  • Meyer, H., et al. (författare)
  • VANET mobility modeling challenged by feedback loops
  • 2011
  • Ingår i: IFIP Annu. Mediterr. Ad Hoc Networking Workshop, Med-Hoc-Net. - 9781457709005 ; , s. 95-102
  • Konferensbidrag (refereegranskat)abstract
    • VANET applications are often providing street traffic information to vehicles and drivers, regarding, for instance, traffic conditions and parking space availability. This information influences in turn the driving behavior in real-world settings. Mobility models used in current VANET simulations are mostly ignoring this feedback entirely. In cases the feedback is included, it is mainly based on ad-hoc approaches with lack of generality.
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  • Negoias, S., et al. (författare)
  • Localization of Odors Can Be Learned
  • 2013
  • Ingår i: Chemical Senses. - : Oxford University Press (OUP). - 0379-864X .- 1464-3553. ; 38:7, s. 553-562
  • Tidskriftsartikel (refereegranskat)abstract
    • Chemicals selectively stimulating the olfactory nerve typically cannot be localized in a lateralization task. Purpose of this study was to investigate whether the ability of subjects to localize an olfactory stimulus delivered passively to 1 of the 2 nostrils would improve under training. Fifty-two young, normosmic women divided in 2 groups participated. One group performed olfactory lateralization training, whereas the other group performed cognitive tasks. Results showed that only subjects performing lateralization training significantly improved in their ability to lateralize olfactory stimuli compared with subjects who did not undergo such training.
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  • Wittkowski, M., et al. (författare)
  • CalVin 3 - A New Release of the ESO Calibrator Selection Tool for the VLT Interferometer
  • 2011
  • Ingår i: The Messenger. - : ESO. ; 145, s. 7-9
  • Tidskriftsartikel (refereegranskat)abstract
    • Interferometric observations require frequent measurements of calibration stars of known diameter to estimate the instrumental transfer function. ESO offers the preparation tool CalVin to select suitable calibrators from an underlying list of calibrators. The latest version 3, first released in January 2011, offers major improvements in the number of available calibrators, the functionality of the search tool, as well as in terms of performance and ease of use. It has been developed in a collaboration between ESO and the French Jean-Marie Mariotti Center (JMMC).
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