SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Hoffmann Henry) "

Search: WFRF:(Hoffmann Henry)

  • Result 1-50 of 178
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Docherty, Anna R, et al. (author)
  • GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
  • 2023
  • In: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
  • Journal article (peer-reviewed)abstract
    • Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
  •  
2.
  • Hibar, Derrek P., et al. (author)
  • Novel genetic loci associated with hippocampal volume
  • 2017
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
  • Journal article (peer-reviewed)abstract
    • The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
  •  
3.
  • Mullins, Niamh, et al. (author)
  • Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
  • 2022
  • In: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 91:3, s. 313-327
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
  •  
4.
  • Satizabal, Claudia L., et al. (author)
  • Genetic architecture of subcortical brain structures in 38,851 individuals
  • 2019
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
  • Journal article (peer-reviewed)abstract
    • Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
  •  
5.
  •  
6.
  •  
7.
  • Christerson, Linus, et al. (author)
  • Typing of Lymphogranuloma Venereum Chlamydia trachomatis Strains
  • 2010
  • In: Emerging Infectious Diseases. - : Centers for Disease Control and Prevention (CDC). - 1080-6040 .- 1080-6059. ; 16:11, s. 1777-1779
  • Journal article (peer-reviewed)abstract
    • We analyzed by multilocus sequence typing 77 lymphogranuloma venereum Chlamydia trachomatis strains from men who have sex with men in Europe and the United States. Specimens from an outbreak in 2003 in Europe were monoclonal. In contrast, several strains were in the United States in the 1980s, including a variant from Europe.
  •  
8.
  • Donahue, N. M., et al. (author)
  • Aging of biogenic secondary organic aerosol via gas-phase OH radical reactions
  • 2012
  • In: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 109:34, s. 13503-13508
  • Journal article (peer-reviewed)abstract
    • The Multiple Chamber Aerosol Chemical Aging Study (MUCHACHAS) tested the hypothesis that hydroxyl radical (OH) aging significantly increases the concentration of first-generation biogenic secondary organic aerosol (SOA). OH is the dominant atmospheric oxidant, and MUCHACHAS employed environmental chambers of very different designs, using multiple OH sources to explore a range of chemical conditions and potential sources of systematic error. We isolated the effect of OH aging, confirming our hypothesis while observing corresponding changes in SOA properties. The mass increases are consistent with an existing gap between global SOA sources and those predicted in models, and can be described by a mechanism suitable for implementation in those models.
  •  
9.
  • Filieri, Antonio, et al. (author)
  • Automated Design of Self-Adaptive Software with Control-Theoretical Formal Guarantees
  • 2014
  • Conference paper (peer-reviewed)abstract
    • Self-adaptation enables software to execute successfully in dynamic, unpredictable, and uncertain environments. Control theory provides a broad set of mathematically grounded techniques for adapting the behavior of dynamic systems. While it has been applied to specific software control problems, it has proved difficult to define methodologies allowing non-experts to systematically apply control techniques to create adaptive software. These difficulties arise because computer systems are usually non-linear, with varying workloads and heterogeneous components, making it difficult to model software as a dynamic system; i.e., by means of differential or difference equations. This paper proposes a broad scope methodology for automatically constructing both an approximate dynamic model of a software system and a suitable controller for managing its non-functional requirements. Despite its generality, this methodology provides formal guarantees concerning the system's dynamic behavior by keeping its model continuously updated to compensate for changes in the execution environment and effects of the initial approximation. We apply the methodology to three case studies, demonstrating its generality by tackling different domains (and different non-functional requirements) with the same approach. Being broadly applicable and fully automated, this methodology may allow the adoption of control theoretical solutions (and their formal properties) for a wide range of software adaptation problems.
  •  
10.
  • Filieri, Antonio, et al. (author)
  • Automated Design of Self-Adaptive Software with Control-Theoretical Formal Guarantees
  • 2015
  • In: Software Engineering and Management 2015 : Multikonferenz der GI-Fachbereiche Softwaretechnik (SWT) und Wirtschaftsinformatik (WI), FA WI-MAW - Multikonferenz der GI-Fachbereiche Softwaretechnik (SWT) und Wirtschaftsinformatik (WI), FA WI-MAW. - 1617-5468. - 9783885796336 ; P-239, s. 112-113
  • Conference paper (peer-reviewed)abstract
    • Self-adaptation enables software to execute successfully in dynamic, unpredictable, and uncertain environments. However, most of the current approaches lack formal guarantees on the effectiveness and dependability of the adaptation mechanisms, limiting their applicability in practice. Control theory established a broad set of mathematically grounded techniques for the control of dynamic systems for several engineering fields. While control shares self-evident similarities with software adaptation, modeling software behavior as a system of differential or difference equations is not straightforward, nor is mastering the mathematical background needed for synthesizing a suitable controller. In this paper we focus on the automatic modeling and controller synthesis for systems with a single knob affecting the satisfaction of a quantitative requirements. Effectiveness and performance of the controller are guaranteed by construction. The approach is fully automated and implemented in several programming languages, empowering non-experts with the ability of applying control principles to a wide range of software adaptation problems.
  •  
11.
  • Filieri, Antonio, et al. (author)
  • Control Strategies for Self-Adaptive Software Systems
  • 2017
  • In: ACM Transactions on Autonomous and Adaptive Systems. - : Association for Computing Machinery (ACM). - 1556-4665 .- 1556-4703. ; 11:4
  • Journal article (peer-reviewed)abstract
    • The pervasiveness and growing complexity of software systems are challenging software engineering to design systems that can adapt their behavior to withstand unpredictable, uncertain, and continuously changing execution environments. Control theoretical adaptation mechanisms have received growing interest from the software engineering community in the last few years for their mathematical grounding, allowing formal guarantees on the behavior of the controlled systems. However, most of these mechanisms are tailored to specific applications and can hardly be generalized into broadly applicable software design and development processes.This article discusses a reference control design process, from goal identification to the verification and validation of the controlled system. A taxonomy of the main control strategies is introduced, analyzing their applicability to software adaptation for both functional and nonfunctional goals. A brief extract on how to deal with uncertainty complements the discussion. Finally, the article highlights a set of open challenges, both for the software engineering and the control theory research communities.
  •  
12.
  • Filieri, Antonio, et al. (author)
  • Software Engineering Meets Control Theory
  • 2015
  • In: 2015 10th International Symposium on Software Engineering for Adaptive and Self-Managing Systems. - Piscataway, NJ, USA : IEEE Press. - 9780769555676 ; , s. 71-82
  • Conference paper (peer-reviewed)abstract
    • The software engineering community has proposed numerous approaches for making software self-adaptive. These approaches take inspiration from machine learning and control theory, constructing software that monitors and modifies its own behavior to meet goals. Control theory, in particular, has received considerable attention as it represents a general methodology for creating adaptive systems. Control-theoretical software implementations, however, tend to be ad hoc. While such solutions often work in practice, it is difficult to understand and reason about the desired properties and behavior of the resulting adaptive software and its controller. This paper discusses a control design process for software systems which enables automatic analysis and synthesis of a controller that is guaranteed to have the desired properties and behavior. The paper documents the process and illustrates its use in an example that walks through all necessary steps for self-adaptive controller synthesis.
  •  
13.
  • Hoffmann, Henry, et al. (author)
  • A generalized software framework for accurate and efficient management of performance goals
  • 2013
  • In: 2013 Proceedings of the International Conference on Embedded Software, EMSOFT 2013. - 9781479914432
  • Conference paper (peer-reviewed)abstract
    • A number of techniques have been proposed to provide runtime performance guarantees while minimizing power consumption. One drawback of existing approaches is that they work only on a fixed set of components (or actuators) that must be specified at design time. If new components become available, these management systems must be redesigned and reimplemented. In this paper, we propose PTRADE, a novel performance management framework that is general with respect to the components it manages. PTRADE can be deployed to work on a new system with different components without redesign and reimplementation. PTRADE's generality is demonstrated through the management of performance goals for a variety of benchmarks on two different Linux/x86 systems and a simulated 128-core system, each with different components governing power and performance tradeoffs. Our experimental results show that PTRADE provides generality while meeting performance goals with low error and close to optimal power consumption.
  •  
14.
  • Hoffmann, Henry, et al. (author)
  • A Generalized Software System for Accurate and Efficient Management of Application Performance Goals
  • 2013
  • Conference paper (peer-reviewed)abstract
    • A number of techniques have been proposed to provide run- time performance guarantees while minimizing power consumption. One drawback of existing approaches is that they work only on a fixed set of components (or actuators) that must be specified at design time. If new components become available, these management systems must be redesigned and reimplemented. In this paper, we propose PTRADE, a novel performance management framework that is general with respect to the components it manages. PTRADE can be deployed to work on a new system with different components without redesign and reimplementation. PTRADE’s generality is demonstrated through the management of performance goals for a variety of benchmarks on two different Linux/x86 systems and a simulated 128-core system, each with different components governing power and performance tradeoffs. Our experimental results show that PTRADE provides generality while meeting performance goals and ap- proaching optimal power consumption. PTRADE consumes only 7% more power than optimal on the Linux/x86 systems and 3% more power than optimal on the simulated many-core.
  •  
15.
  • Hoffmann, Henry, et al. (author)
  • PCP: A Generalized Approach to Optimizing Performance Under Power Constraints through Resource Management
  • 2014
  • Conference paper (peer-reviewed)abstract
    • Many computing systems are constrained by power budgets. While they could temporarily draw more power, doing so creates unsustainable temperatures and unwanted electricity consumption. Developing systems that operate within power budgets is a constrained optimization problem: configuring the components within the system to maximize performance while maintaining sustainable power consumption. This is a challenging problem because many different components within a system affect power/performance tradeoffs and they interact in complex ways. Prior approaches address these challenges by fixing a set of components and designing a power budgeting framework that manages only that one set of components. If new components become available, then this framework must be redesigned and reimplemented. This paper presents PCP, a general solution to the power budgeting problem that works with arbitrary sets of components, even if they are not known at design time or change during runtime. To demonstrate PCP we implement it in software and deploy it on a Linux/x86 platform.
  •  
16.
  • Hoffmann, Henry, et al. (author)
  • Self-aware computing in the Angstrom processor
  • 2012
  • In: Proceedings of the 49th Annual Design Automation Conference. - New York, NY, USA : ACM. - 9781450311991 ; , s. 259-264
  • Conference paper (peer-reviewed)abstract
    • Addressing the challenges of extreme scale computing re- quires holistic design of new programming models and sys- tems that support those models. This paper discusses the Angstrom processor, which is designed to support a new Self-aware Computing (SEEC) model. In SEEC, applications explicitly state goals, while other systems components provide actions that the SEEC runtime system can use to meet those goals. Angstrom supports this model by ex- posing sensors and adaptations that traditionally would be managed independently by hardware. This exposure allows SEEC to coordinate hardware actions with actions specified by other parts of the system, and allows the SEEC runtime system to meet application goals while reducing costs (e.g., power consumption).
  •  
17.
  • Hudson, Lawrence N, et al. (author)
  • The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project
  • 2017
  • In: Ecology and Evolution. - : John Wiley & Sons. - 2045-7758. ; 7:1, s. 145-188
  • Journal article (peer-reviewed)abstract
    • The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional statistical models of how local biodiversity responds to these measures. We describe and make freely available this 2016 release of the database, containing more than 3.2 million records sampled at over 26,000 locations and representing over 47,000 species. We outline how the database can help in answering a range of questions in ecology and conservation biology. To our knowledge, this is the largest and most geographically and taxonomically representative database of spatial comparisons of biodiversity that has been collated to date; it will be useful to researchers and international efforts wishing to model and understand the global status of biodiversity.
  •  
18.
  • Imes, Connor, et al. (author)
  • POET: A Portable Approach to Minimizing Energy Under Soft Real-time Constraints
  • 2015
  • In: Real-Time and Embedded Technology and Applications Symposium (RTAS), 2015 IEEE. - 1545-3421. - 9781479986033 - 9781479986040 ; , s. 75-86
  • Conference paper (peer-reviewed)abstract
    • Embedded real-time systems must meet timing constraints while minimizing energy consumption. To this end, many energy optimizations are introduced for specific platforms or specific applications. These solutions are not portable, however, and when the application or the platform change, these solutions must be redesigned. Portable techniques are hard to develop due to the varying tradeoffs experienced with different application/platform configurations. This paper addresses the problem of finding and exploiting general tradeoffs, using control theory and mathematical optimization to achieve energy minimization under soft real-time application constraints. The paper presents POET, an open-source C library and runtime system that takes a specification of the platform resources and optimizes the application execution. We test POET's ability to deliver portable energy reduction on two embedded systems with different tradeoff spaces - the first with a mobile Intel Haswell processor, and the second with an ARM big.LITTLE System on Chip. POET achieves the desired latency goals with small error while consuming, on average, only 1.3% more energy than the dynamic optimal oracle on the Haswell and 2.9% more on the ARM. We believe this open-source, library-based approach to resource management will simplify the process of writing portable, energy-efficient code for embedded systems.
  •  
19.
  • Imes, Connor, et al. (author)
  • Portable Multicore Resource Management for Applications with Performance Constraints
  • 2016
  • In: IEEE 10th International Symposium on Embedded Multicore/Many-core Systems-on-Chip. - 9781509035304 ; , s. 305-312
  • Conference paper (peer-reviewed)abstract
    • Many modern software applications have performance requirements, like mobile and embedded systems that must keep up with sensor data, or web services that must return results to users within an acceptable latency bound. For such applications, the goal is not to run as fast as possible, but to meet their performance requirements with minimal resource usage, the key resource in most systems being energy. Heuristic solutions have been proposed to minimize energy under a performance constraint, but recent studies show that these approaches are not portable - heuristics that are near-optimal on one system can waste integer factors of energy on others. The POET library and runtime system provides a portable method for resource management that achieves near-optimal energy consumption while meeting soft real-time constraints across a range of devices. Although POET was originally designed and tested on embedded and mobile platforms, in this paper we evaluate it on a manycore server-class system. The larger scale of manycore systems adds some overhead to adjusting resource allocations, but POET still meets timing constraints and achieves near-optimal energy consumption. We demonstrate that POET achieves portable energy efficiency on platforms ranging from low-power ARM big.LITTLE architectures to powerful x86 server-class systems.
  •  
20.
  •  
21.
  • Laettig-Tuennemann, Gisela, et al. (author)
  • Backbone rigidity and static presentation of guanidinium groups increases cellular uptake of arginine-rich cell-penetrating peptides
  • 2011
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 2, s. 453-
  • Journal article (peer-reviewed)abstract
    • In addition to endocytosis-mediated cellular uptake, hydrophilic cell-penetrating peptides are able to traverse biological membranes in a non-endocytic mode termed transduction, resulting in immediate bioavailability. Here we analysed structural requirements for the non-endocytic uptake mode of arginine-rich cell-penetrating peptides, by a combination of live-cell microscopy, molecular dynamics simulations and analytical ultracentrifugation. We demonstrate that the transduction efficiency of arginine-rich peptides increases with higher peptide structural rigidity. Consequently, cyclic arginine-rich cell-penetrating peptides showed enhanced cellular uptake kinetics relative to their linear and more flexible counterpart. We propose that guanidinium groups are forced into maximally distant positions by cyclization. This orientation increases membrane contacts leading to enhanced cell penetration.
  •  
22.
  • Maggio, Martina, et al. (author)
  • ARPE : A tool to build equation models of computing systems
  • 2013
  • Conference paper (peer-reviewed)abstract
    • An important challenge in the design and implementation of self-optimizing systems is that of finding a model that maps changes in a tunable parameter (or “knob”) into an effect on the performance, power, or energy, of the overall system. This paper describes ARPE (Analyzing the Relationship between Parameters and Effectors), an open source tool to analyze the effect of parameter changes on the behavior of applications in a complex system with interrelated knobs. We evaluate ARPE in several case studies on real systems with different sensors and parameters. Our results show that ARPE can help determine the best sensors for a system designed to predict application execution time. For space limitations, only one case study is here shown, demonstrating that the error of modeling energy consumption is limited to the range 0.1−10% for previously unseen benchmarks.
  •  
23.
  • Maggio, Martina, et al. (author)
  • Automated Control of Multiple Software Goals using Multiple Actuators
  • 2017
  • In: ESEC/FSE 2017 Proceedings of the 2017 11th Joint Meeting on Foundations of Software Engineering. - New York, NY, USA : ACM. - 9781450351058 ; , s. 373-384
  • Conference paper (peer-reviewed)abstract
    • Modern software should satisfy multiple goals simultaneously: it should provide predictable performance, be robust to failures, handle peak loads and deal seamlessly with unexpected conditions and changes in the execution environment. For this to happen, software designs should account for the possibility of runtime changes and provide formal guarantees of the software's behavior. Control theory is one of the possible design drivers for runtime adaptation, but adopting control theoretic principles often requires additional, specialized knowledge. To overcome this limitation, automated methodologies have been proposed to extract the necessary information from experimental data and design a control system for runtime adaptation. These proposals, however, only process one goal at a time, creating a chain of controllers. In this paper, we propose and evaluate the first automated strategy that takes into account multiple goals without separating them into multiple control strategies. Avoiding the separation allows us to tackle a larger class of problems and provide stronger guarantees. We test our methodology's generality with three case studies that demonstrate its broad applicability in meeting performance, reliability, quality, security, and energy goals despite environmental or requirements changes.
  •  
24.
  • Maggio, Martina, et al. (author)
  • Comparison of Decision Making Strategies for Self-Optimization in Autonomic Computing Systems
  • 2012
  • In: ACM Transactions on Autonomous and Adaptive Systems. - : Association for Computing Machinery (ACM). - 1556-4665 .- 1556-4703. ; 7:4
  • Journal article (peer-reviewed)abstract
    • Autonomic computing systems are capable of adapting their behavior and resources thousands of times a second to automatically decide the best way to accomplish a given goal despite changing environmental conditions and demands. Different decision mechanisms are considered in the literature, but in the vast majority of the cases a single technique is applied to a given instance of the problem. This paper proposes a comparison of some state of the art approaches for decision making, applied to a self-optimizing autonomic system that allocates resources to a software application. A variety of decision mechanisms, from heuristics to control-theory and machine learning, are investigated. The results obtained with these solutions are compared by means of case studies using standard benchmarks. Our results indicate that the most suitable decision mechanism can vary depending on the specific test case but adaptive and model predictive control systems tend to produce good performance and may work best in a priori unknown situations.
  •  
25.
  • Maggio, Martina, et al. (author)
  • Power Optimization in Embedded Systems via Feedback Control of Resource Allocation
  • 2013
  • In: IEEE Transactions on Control Systems Technology. - 1558-0865. ; 21:1, s. 239-246
  • Journal article (peer-reviewed)abstract
    • Embedded systems often operate in so variable con- ditions that design can only be carried out for some worst-case scenario. This leads to over-provisioned resources, and undue power consumption. Feedback control is an effective (and not yet fully explored) way to tailor resource usage online, thereby making the system behave and consume as if it was optimized for each specific utilization case. A control-theoretical methodology is here proposed to complement architecture design in a view to said tailoring. Experimental results show that a so addressed architecture meets performance requirements, while consuming less power than any fixed (i.e., uncontrolled) one capable of attaining the same goals. Also, the methodology naturally induces computationally lightweight control laws.
  •  
26.
  • Maggio, Martina, et al. (author)
  • Self-Adaptive Video Encoder : Comparison of Multiple Adaptation Strategies Made Simple
  • 2017
  • In: Proceedings - 2017 IEEE/ACM 12th International Symposium on Software Engineering for Adaptive and Self-Managing Systems, SEAMS 2017. - Buenos Aires, Argentina. - 9781538615508 ; , s. 123-128
  • Conference paper (peer-reviewed)abstract
    • This paper presents an adaptive video encoder that can be used to compare the behavior of different adaptation strategies using multiple actuators to steer the encoder towards a global goal, composed of multiple conflicting objectives. A video camera produces frames that the encoder manipulates with the objective of matching some space requirement to fit a given communication channel. A second objective is to maintain a given similarity index between the manipulated frames and the original ones. To achieve the goal, the software can change three parameters: the quality of the encoding, the noise reduction filter radius and the sharpening filter radius. In most cases, the objectives - small encoded size and high quality - conflict, since a larger frame would have a higher similarity index to its original counterpart. This makes the problem difficult from the control perspective and makes the case study appealing to compare different adaptation strategies.
  •  
27.
  • Mullins, Niamh, et al. (author)
  • GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
  • 2019
  • In: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 176:8, s. 651-660
  • Journal article (peer-reviewed)abstract
    • Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association study (GWAS) on suicide attempt, using cohorts of individuals with major depressive disorder, bipolar disorder, and schizophrenia from the Psychiatric Genomics Consortium.Methods: The samples comprised 1,622 suicide attempters and 8,786 nonattempters with major depressive disorder; 3,264 attempters and 5,500 nonattempters with bipolar disorder; and 1,683 attempters and 2,946 nonattempters with schizophrenia. A GWAS on suicide attempt was performed by comparing attempters to nonattempters with each disorder, followed by a meta-analysis across disorders. Polygenic risk scoring was used to investigate the genetic relationship between suicide attempt and the psychiatric disorders.Results: Three genome-wide significant loci for suicide attempt were found: one associated with suicide attempt in major depressive disorder, one associated with suicide attempt in bipolar disorder, and one in the meta-analysis of suicide attempt in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with suicide attempt in major depressive disorder (R2=0.25%), bipolar disorder (R2=0.24%), and schizophrenia (R2=0.40%).Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size may help to robustly identify genetic associations and provide biological insights into the etiology of suicide attempt.
  •  
28.
  • O'Seaghdha, Conall M., et al. (author)
  • Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations
  • 2013
  • In: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 9:9, s. e1003796-
  • Journal article (peer-reviewed)abstract
    • Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in <= 21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P = 4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.
  •  
29.
  • Smith, Jennifer A, et al. (author)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • In: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
  • Journal article (peer-reviewed)abstract
    • Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
  •  
30.
  • Sonderby, Ida E., et al. (author)
  • Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
  • 2020
  • In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
  • Journal article (peer-reviewed)abstract
    • Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
  •  
31.
  • Stuart, Philip E., et al. (author)
  • Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture
  • 2015
  • In: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 97:6, s. 816-836
  • Journal article (peer-reviewed)abstract
    • Psoriasis vulgaris (PsV) is a common inflammatory and hyperproliferative skin disease. Up to 30% of people with PsV eventually develop psoriatic arthritis (PsA), an inflammatory musculoskeletal condition. To discern differences in genetic risk factors for PsA and cutaneous-only psoriasis (PsC), we carried out a genome-wide association study (GWAS) of 1,430 PsA case subjects and 1,417 unaffected control subjects. Meta-analysis of this study with three other GWASs and two targeted genotyping studies, encompassing a total of 9,293 PsV case subjects, 3,061 PsA case subjects, 3,110 PsC case subjects, and 13,670 unaffected control subjects of European descent, detected 10 regions associated with PsA and 11 with PsC at genome-wide (GW) significance. Several of these association signals (IFNLR1, IFIH1, NFKBIA for PsA; TNFRSF9, LCE3C/B, TRAF3IP2, IL23A, NFKBIA for PsC) have not previously achieved GW significance. After replication, we also identified a PsV-associated SNP near CDKAL1 (rs4712528, odds ratio [OR] = 1.16, p = 8.4 x 10(-11)). Among identified psoriasis risk variants, three were more strongly associated with PsC than PsA (rs12189871 near HLA-C, p = 5.0 x 10(-19); rs4908742 near TNFRSF9, p = 0.00020; rs10888503 near LCE3A, p = 0.0014), and two were more strongly associated with PsA than PsC (rs12044149 near IL23R, p = 0.00018; rs9321623 near TNFAIP3, p = 0.00022). The PsA-specific variants were independent of previously identified psoriasis variants near IL23R and TNFAIP3. We also found multiple independent susceptibility variants in the IL12B, NOS2, and IFIH1 regions. These results provide insights into the pathogenetic similarities and differences between PsC and PsA.
  •  
32.
  • Sønderby, Ida E., et al. (author)
  • 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
  • 2021
  • In: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
  • Journal article (peer-reviewed)abstract
    • Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
  •  
33.
  • Tsoi, Lam C., et al. (author)
  • Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants
  • 2017
  • In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
  • Journal article (peer-reviewed)abstract
    • Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts, with a combined effective sample size amp;gt;39,000 individuals. We identified 16 additional psoriasis susceptibility loci achieving genome-wide significance, increasing the number of identified loci to 63 for European-origin individuals. Functional analysis highlighted the roles of interferon signalling and the NFkB cascade, and we showed that the psoriasis signals are enriched in regulatory elements from different T cells (CD8(+) T-cells and CD4(+) T-cells including T(H)0, T(H)1 and T(H)17). The identified loci explain similar to 28% of the genetic heritability and generate a discriminatory genetic risk score (AUC = 0.76 in our sample) that is significantly correlated with age at onset (p = 2 x 10(-89)). This study provides a comprehensive layout for the genetic architecture of common variants for psoriasis.
  •  
34.
  • van der Meer, Dennis, et al. (author)
  • Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
  • 2020
  • In: JAMA psychiatry. - : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 77:4, s. 420-430
  • Journal article (peer-reviewed)abstract
    • Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019.Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks.Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.
  •  
35.
  • Aad, G., et al. (author)
  • 2011
  • swepub:Mat__t (peer-reviewed)
  •  
36.
  • Aad, G., et al. (author)
  • 2011
  • Journal article (peer-reviewed)
  •  
37.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
38.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
39.
  • Aad, G., et al. (author)
  • 2011
  • swepub:Mat__t (peer-reviewed)
  •  
40.
  • Aad, G., et al. (author)
  • 2013
  • swepub:Mat__t (peer-reviewed)
  •  
41.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
42.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
43.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
44.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
45.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
46.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
47.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
48.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
49.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
50.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-50 of 178
Type of publication
journal article (47)
conference paper (12)
book chapter (1)
Type of content
peer-reviewed (177)
Author/Editor
Abi, B. (144)
Abramowicz, H. (144)
Abreu, H. (144)
Adelman, J. (144)
Adomeit, S. (144)
Adye, T. (144)
show more...
Akimoto, G. (144)
Akimov, A. V. (144)
Aleksa, M. (144)
Alexandre, G. (144)
Alhroob, M. (144)
Allport, P. P. (144)
Amelung, C. (144)
Anastopoulos, C. (144)
Angerami, A. (144)
Annovi, A. (144)
Antonaki, A. (144)
Antonelli, M. (144)
Arabidze, G. (144)
Aracena, I. (144)
Arai, Y. (144)
Arguin, J-F. (144)
Arnaez, O. (144)
Artamonov, A. (144)
Asai, S. (144)
Asquith, L. (144)
Assamagan, K. (144)
Azuma, Y. (144)
Bachacou, H. (144)
Bachas, K. (144)
Backes, M. (144)
Bain, T. (144)
Baker, O. K. (144)
Banas, E. (144)
Barak, L. (144)
Barbero, M. (144)
Barillari, T. (144)
Barisonzi, M. (144)
Barklow, T. (144)
Bartoldus, R. (144)
Battistin, M. (144)
Bawa, H. S. (144)
Beau, T. (144)
Beck, H. P. (144)
Beckingham, M. (144)
Bella, G. (144)
Belotskiy, K. (144)
Beltramello, O. (144)
Benary, O. (144)
Benekos, N. (144)
show less...
University
Lund University (29)
Uppsala University (18)
Stockholm University (15)
Royal Institute of Technology (12)
Umeå University (10)
Karolinska Institutet (9)
show more...
University of Gothenburg (4)
Mälardalen University (3)
Linnaeus University (3)
Linköping University (2)
Stockholm School of Economics (1)
Chalmers University of Technology (1)
Swedish University of Agricultural Sciences (1)
show less...
Language
English (178)
Research subject (UKÄ/SCB)
Natural sciences (19)
Engineering and Technology (16)
Medical and Health Sciences (12)

Year

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view