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- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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- Watson, H. J., et al.
(författare)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
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Tidskriftsartikel (refereegranskat)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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| 15. |
- Turcot, Valerie, et al.
(författare)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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- Natali, S. M., et al.
(författare)
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Large loss of CO2 in winter observed across the northern permafrost region
- 2019
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Ingår i: Nature Climate Change. - : Springer Science and Business Media LLC. - 1758-678X .- 1758-6798. ; 9:11, s. 852-857
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Tidskriftsartikel (refereegranskat)abstract
- Recent warming in the Arctic, which has been amplified during the winter(1-3), greatly enhances microbial decomposition of soil organic matter and subsequent release of carbon dioxide (CO2)(4). However, the amount of CO2 released in winter is not known and has not been well represented by ecosystem models or empirically based estimates(5,6). Here we synthesize regional in situ observations of CO2 flux from Arctic and boreal soils to assess current and future winter carbon losses from the northern permafrost domain. We estimate a contemporary loss of 1,662 TgC per year from the permafrost region during the winter season (October-April). This loss is greater than the average growing season carbon uptake for this region estimated from process models (-1,032 TgC per year). Extending model predictions to warmer conditions up to 2100 indicates that winter CO2 emissions will increase 17% under a moderate mitigation scenario-Representative Concentration Pathway 4.5-and 41% under business-as-usual emissions scenario-Representative Concentration Pathway 8.5. Our results provide a baseline for winter CO2 emissions from northern terrestrial regions and indicate that enhanced soil CO2 loss due to winter warming may offset growing season carbon uptake under future climatic conditions.
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- Arsene, I. C., et al.
(författare)
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Rapidity and centrality dependence of particle production for identified hadrons in Cu + Cu collisions at s NN =200 GeV
- 2016
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 94:1
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Tidskriftsartikel (refereegranskat)abstract
- The BRAHMS collaboration has measured transverse momentum spectra of pions, kaons, protons, and antiprotons at rapidities 0 and 3 for Cu+Cu collisions at sNN=200 GeV. As the collisions become more central the collective radial flow increases while the temperature of kinetic freeze-out decreases. The temperature is lower and the radial flow weaker at forward rapidity. Pion and kaon yields with transverse momenta between 1.5 and 2.5 GeV/c are suppressed for central collisions relative to scaled p+p collisions. This suppression, which increases as the collisions become more central, is consistent with jet quenching models and is also present with comparable magnitude at forward rapidity. At such rapidities, initial state effects may also be present and persistence of the meson suppression to high rapidity may reflect a combination of jet quenching and nuclear shadowing. The ratio of protons to mesons increases as the collisions become more central and is largest at forward rapidities.
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- Boudjadar, Abdeldjalil, et al.
(författare)
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A reconfigurable framework for compositional schedulability and power analysis of hierarchical scheduling systems with frequency scaling
- 2015
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Ingår i: Science of Computer Programming. - : ELSEVIER SCIENCE BV. - 0167-6423 .- 1872-7964. ; 113, s. 236-260
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a compositional framework for the modeling and analysis of hierarchical scheduling systems. We consider both schedulability and energy consumption of individual components, while analyzing a single core setting with a voltage frequency scaling CPU. According to the CPU frequency scaling, each task has a set of different execution times. Thus, the energy consumption of the whole system varies from one execution to another. We analyze each component individually by checking the feasibility of its workload against both the CPU availability and energy consumption constraints of such a component. Our periodic task model considers both static and dynamic priorities together with preemptive and non-preemptive behaviors. The models are realized using different forms of Hybrid Automata, all of which are analyzed using variants of UPPAAL. The CPU frequencies, task behavior and scheduling policies used in each component are some of the reconfigurable parameters of the system. Finally, we demonstrate the applicability and scalability of our framework by analyzing the schedulability and power consumption of an avionics system. (C) 2015 Elsevier B.V. All rights reserved.
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- Boudjadar, Abdeldjalil, 1983-, et al.
(författare)
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Statistical and exact schedulability analysis of hierarchical scheduling systems
- 2016
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Ingår i: Science of Computer Programming. - : Elsevier. - 0167-6423 .- 1872-7964. ; 127, s. 103-130
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Tidskriftsartikel (refereegranskat)abstract
- This paper contains two contributions: 1) A development methodology involving two techniques to enhance the resource utilization and 2) a new generic multi-core resource model for hierarchical scheduling systems.As the first contribution, we propose a two-stage development methodology relying on the adjustment of timing attributes in the detailed models during the design stage. We use a lightweight method (statistical model checking) for design exploration, easily assuring high confidence in the correctness of the models. Once a satisfactory design has been found, it can be proved schedulable using the computation costly method (symbolic model checking). In order to analyze a hierarchical scheduling system compositionally, we introduce the notion of a stochastic supplier modeling the supply of resources from each component to its child components in the hierarchy. We specifically investigate two different techniques to widen the set of provably schedulable systems: 1) a new supplier model; 2) restricting the potential task offsets.We also provide a way to estimate the minimum resource supply (budget) that a component is required to provide. In contrast to analytical methods, we prove non-schedulable cases via concrete counterexamples. By having richer and more detailed scheduling models this framework, has the potential to prove the schedulability of more systems.As the second contribution, we introduce a generic resource model for multi-core hierarchical scheduling systems, and show how it can be instantiated for classical resource models: Periodic Resource Models (PRM) and Explicit Deadline Periodic (EDP) resource models. The generic multi-core resource model is presented in the context of a compositional model-based approach for schedulability analysis of hierarchical scheduling systems.The multi-core framework presented in this paper is an extension of the single-core framework used for the analysis in the rest of the paper.
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| 20. |
- Kim, Jin-Hyun, et al.
(författare)
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Optimizing the Resource Requirements of Hierarchical Scheduling Systems
- 2016
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Ingår i: SIGBED Review. - : Association for Computing Machinery (ACM). - 1551-3688 .- 1551-3688. ; 13:3, s. 41-48
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Compositional reasoning on hierarchical scheduling systems is a well-founded formal method that can construct schedulable and optimal system configurations in a compositional way. However, a compositional framework formulates the resource requirement of a component, called an interface, by assuming that a resource is always supplied by the parent components in the most pessimistic way. For this reason, the component interface demands more resources than the amount of resources that are really sufficient to satisfy sub-components. We provide two new supply bound functions which provides tighter bounds on the resource requirements of individual components. The tighter bounds are calculated by using more information about the scheduling system.We evaluate our new tighter bounds by using a model-based schedulability framework for hierarchical scheduling systems realized as Uppaal models. The timed models are checked using model checking tools Uppaal and Uppaal SMC, and we compare our results with the state of the art tool CARTS.
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| 21. |
- Takeuchi, Fumihiko, et al.
(författare)
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Interethnic analyses of blood pressure loci in populations of East Asian and European descent
- 2018
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.
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