| 1. |
- Roy, Sushmita, et al.
(författare)
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Identification of functional elements and regulatory circuits by Drosophila modENCODE.
- 2010
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 330:6012, s. 1787-1797
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Tidskriftsartikel (refereegranskat)abstract
- To gain insight into how genomic information is translated into cellular and developmental programs, the Drosophila model organism Encyclopedia of DNA Elements (modENCODE) project is comprehensively mapping transcripts, histone modifications, chromosomal proteins, transcription factors, replication proteins and intermediates, and nucleosome properties across a developmental time course and in multiple cell lines. We have generated more than 700 data sets and discovered protein-coding, noncoding, RNA regulatory, replication, and chromatin elements, more than tripling the annotated portion of the Drosophila genome. Correlated activity patterns of these elements reveal a functional regulatory network, which predicts putative new functions for genes, reveals stage- and tissue-specific regulators, and enables gene-expression prediction. Our results provide a foundation for directed experimental and computational studies in Drosophila and related species and also a model for systematic data integration toward comprehensive genomic and functional annotation.
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| 2. |
- Asselbergs, Folkert W., et al.
(författare)
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Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
- 2012
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 91:5, s. 823-838
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom similar to 50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering similar to 2,000 candidate genes. SNP-lipid associations were replicated either in a cohort comprising an additional 24,736 samples or within the Global Lipid Genetic Consortium. We identified four, six, ten, and four unreported SNPs in established lipid genes for HDL-C, LDL-C, TC, and TGs, respectively. We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs. The proportion of explained phenotypic variance in the subset of studies providing individual-level data was 9.9% for HDL-C, 9.5% for LDL-C, 10.3% for TC, and 8.0% for TGs. This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
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| 3. |
- Furberg, Helena, et al.
(författare)
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Genome-wide meta-analyses identify multiple loci associated with smoking behavior
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 134-441
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Tidskriftsartikel (refereegranskat)abstract
- Consistent but indirect evidence has implicated genetic factors in smoking behavior1,2. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKline (Ox-GSK) consortia to follow up the 15 most significant regions (n > 140,000). We identified three loci associated with number of cigarettes smoked per day. The strongest association was a synonymous 15q25 SNP in the nicotinic receptor gene CHRNA3 (rs1051730[A], b = 1.03, standard error (s.e.) = 0.053, beta = 2.8 x 10(-73)). Two 10q25 SNPs (rs1329650[G], b = 0.367, s. e. = 0.059, beta = 5.7 x 10(-10); and rs1028936[A], b = 0.446, s. e. = 0.074, beta = 1.3 x 10(-9)) and one 9q13 SNP in EGLN2 (rs3733829[G], b = 0.333, s. e. = 0.058, P = 1.0 x 10(-8)) also exceeded genome-wide significance for cigarettes per day. For smoking initiation, eight SNPs exceeded genome-wide significance, with the strongest association at a nonsynonymous SNP in BDNF on chromosome 11 (rs6265[C], odds ratio (OR) = 1.06, 95% confidence interval (Cl) 1.04-1.08, P = 1.8 x 10(-8)). One SNP located near DBH on chromosome 9 (rs3025343[G], OR = 1.12, 95% Cl 1.08-1.18, P = 3.6 x 10(-8)) was significantly associated with smoking cessation.
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| 4. |
- Silfverskiöld, Stefan, et al.
(författare)
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Technology Forecast 2013 Military Utility of Six Technologies : a Report from Seminars at the SNDC Department of Military-Technology
- 2013
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Four technology forecast reports from the Fraunhofer Institute and two internet based search reports from Recorded Future have been reviewed by staff at the Department of Military- Technology at the Swedish National Defence College (Note that there probably are other technology areas, equally interesting, but not included in this study). The task given by FMV was to assess the military utility of the chosen technologies in a time frame from 2025 to 2030, from a SwAF viewpoint.We assess the military utility of a certain technology, as its contribution to the operational capabilities of the SwAF, within identified relevant scenarios.The technologies were grouped in three classes; technologies with potentially significant, uncertain or negligible military utility.The following technologies were assessed to have a potential for significant military utility;Alternative fuelsHigh altitude platformsUnmanned Aerial VehiclesCyber DefenceThe forecasting and analysis technology described in the report "Future of Cyber Threats" if the tool is combined with advanced artificial intelligence algorithmsThe following technology was assessed to have uncertain military utility;The forecasting and analysis technology described in the report "Future of Cyber Threats" in its present formThe following technology was assessed to have negligible military utility;Walking machinesThe method used was first to make a summary of each forecast report. The technology was then put into one or more scenarios that are assessed to be the best in order to show possible military utility as well as possibilities and drawbacks of the technologies. Based on a SWOT-analysis, the contribution to SwAF capabilities and the cost in terms of acquisition, C2 footprint, logistic footprint, doctrine/TTP, training, facilities and R&D were assessed. Conclusions regarding the military utility of the technology were drawn.Our evaluation of the method used shows that there is a risk that the assessment is biased by the participating experts’ presumptions and experiences from their own field of research. The scenarios that were chosen do not cover all aspects of the technology and their possible contribution to operational capabilities. It should be stressed that we have assessed the six technologies’ potential military utility within the presented scenarios, not the technology itself.The chosen definition of military utility clearly affects the result of the study. The definition (the military utility of a certain technology is its contribution to the operational capabilities of the SwAF, within identified relevant scenarios) has been slightly modified from the one used in the Technology Forecast 2012. It is believed to be good enough for this report, but could be further elaborated in the future.The greatest value of the method used is its simplicity, cost effectiveness and the tradeoff that it promotes learning within the working group. The composition of the working group and the methodology used is believed to provide for a broad and balanced coverage of the technologies under study. This report provides executive summaries of the Fraunhofer and Recorded Future reports and helps the SwAF Headquarter to evaluate the military utility of emerging technologies within identified relevant scenarios.Given the limited quantitative base (only 2 reports) for assessing the potential value of using the tool Temporal Analytics™ used by Recorded Future, our conclusion is nevertheless that the overall value of using the tool for technology forecasting is rather poor. Our assessment is that Recorded Future at present can’t be used as an alternative to the Fraunhofer Institute. Overall, the quality of the Fraunhofer reports is considered to be balanced and of a high level of critical analysis regarding technology development. These reports are in line with our task to evaluate the military utility of the emerging technologies. In the case of Recorded Future’s technology forecast, the sources that are relevant for making military predictions are considered to be ill-suited for aggregation in the form the tool in focus, Temporal Analytics™, provides. The tool requires further development to fit military purposes. Further use of Recorded Future in the technology forecast process is therefore not recommended, at least not until the tool has been combined with advanced artificial intelligence algorithms.We propose that the Department of Military Technology at SNDC could be involved in the early phase of the Technology Forecast process giving support to FMV in choosing which technology areas that should be selected to be studied by the Fraunhofer Institute within the framework of the Technology Forecast project (Teknisk Prognos).
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| 5. |
- Silfverskiöld, Stefan, et al.
(författare)
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Technology Forecast 2014 Military Utility of Four Technologies : A Report from Seminars at the SNDC Department of Military-Technology
- 2014
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Four technology forecast reports from the Fraunhofer Institute have been reviewed by staff at the Department of Military-Technology at the Swedish National Defence College. The task given by the Swedish Defence Material Administration, FMV, was to assess the military utility of the given technologies in a time frame to 2040, from a Swedish Armed Forces (SwAF) point of view.We assess the military utility of a certain technology as its contribution to the operational capabilities of the SwAF, based on identified relevant scenarios. Since a new capability catalogue is under development at the SwAF Headquarters, we will only present general assessments of the capability impact from the technologies under study.The technologies were grouped in three classes; technologies with potentially significant, uncertain or negligible military utility. The classification uncertain is given for technologies that are difficult to put in the two other classes, however it is not because the technology readiness level (TRL) is not reached by 2040.The following technologies were assessed to have a potential for significant military utility;Kinodynamic motion planning This technology is a prerequisite for reaching full autonomy of highly agile unmanned systems and is probably a logical, evolutionary way to go forward. It will affect most SwAF capabilities through enhanced mobility. This technology should be studied by the SwAF, preferably within all operational environments.Bio-inspired Adaptive Camouflage Surfaces "Bio-inspired camouflage" should be viewed in a broad multispectral perspective involving design requirements for low contrast in the visual- and IR-spectrum as well as, for most applications, low reflectivity in the radar-band. There is an ongoing duel between sensor development and camouflage systems and our assessment is that the fewer and more valuable platforms we have, we will need better camouflage performance in order to maintain low probability of detection and short detection distances for an adversary, at least if faced with a technologically mature adversary. Our overall assessment is that bio-inspired adaptive camouflage systems have significant potential for military utility.UCAV If the idea that UCAV are superior in air combat is realizable, we may be facing a paradigm shift of the same magnitude as that which airborne radar or air-to-air missiles introduced. Thus, UCAV are deemed to have potential for significant military utility in future air operations even though it is, at present, hard to predict how they will be used to maximize their military utility.The following technology was assessed to have uncertain military utility;Bulk metallic glass (BMG) If BMG innovations prove to form a new performance step in armour and weapons development, it will from a Swedish perspective be crucial to take part in that development or else take the risk of being inferior on the battlefield. Given the many uncertainties concerning production and applications, we assess BMGs to have uncertain potential for military utility in 2040. However, the SwAF should monitor the development and applications in this area.None of the studied technologies were found to have negligible military utility. .The method used in this technology forecast report was to assign each Fraunhofer report to one reviewer in the working group. First, a summary of each forecast report was made. The Fraunhofer assessment of technical readiness level (TRL) in 2030-40 was held to be correct. The technology was then put into one or more scenarios that were assessed to be suitable in order to assess the military utility as well as indicate possibilities and drawbacks of the technologies. Based on a SWOT-analysis, the contribution to SwAF capabilities and the cost in terms of acquisition, C2 footprint, logistic footprint, doctrine/TTP, training, facilities and R&D were assessed. Finally, conclusions regarding the potential military utility of the technology were drawn.The chosen definition of military utility clearly affects the result of the study. The definition (the military utility of a certain technology is its contribution to the operational capabilities of the SwAF, within identified relevant scenarios) is the same that was used in the Technology Forecast 2013. It is believed to be good enough for this report, but could be further elaborated in the future. An article that in depth presents our concept of military utility has been elaborated at the department.1Our evaluation of the method used shows that there is a risk that the assessment is biased by the participating experts’ presumptions and experiences from their own field of research. The scenarios that were chosen do not cover all aspects of the technology and their possible contribution to operational capabilities. It should be stressed that we have assessed the four technologies’ potential military utility within the specific presented scenarios, not the technology itself. When additional results have been found in the analysis this is mentioned.The greatest value of the method used is its simplicity, cost effectiveness and the tradeoff that it promotes learning within the working group. The composition of the working group and the methodology used is believed to provide for a broad and balanced coverage of the technologies under study. This report provides executive summaries of the Fraunhofer and Recorded Future reports and the intention is to help the SwAF Headquarter to evaluate the military utility of emerging technologies within identified relevant scenarios.Overall, the quality of the Fraunhofer reports is considered to be balanced and of a high level of critical analysis regarding technology development. These reports are in line with our task to evaluate the military utility of the emerging technologies.We appreciate that the Department of Military Technology at SNDC this time has been involved in the early phase of the Technology Forecast process.
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| 6. |
- Ambatipudi, Radhika, 1982-
(författare)
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High Frequency (MHz) Planar Transformers for Next Generation Switch Mode Power Supplies
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Increasing the power density of power electronic converters while reducing or maintaining the same cost, offers a higher potential to meet the current trend inrelation to various power electronic applications. High power density converters can be achieved by increasing the switching frequency, due to which the bulkiest parts, such as transformer, inductors and the capacitor's size in the convertercircuit can be drastically reduced. In this regard, highly integrated planar magnetics are considered as an effective approach compared to the conventional wire wound transformers in modern switch mode power supplies (SMPS). However, as the operating frequency of the transformers increase from several hundred kHz to MHz, numerous problems arise such as skin and proximity effects due to the induced eddy currents in the windings, leakage inductance and unbalanced magnetic flux distribution. In addition to this, the core losses whichare functional dependent on frequency gets elevated as the operating frequency increases. Therefore, this thesis provides an insight towards the problems related to the high frequency magnetics and proposes a solution with regards to different aspects in relation to designing high power density, energy efficient transformers.The first part of the thesis concentrates on the investigation of high power density and highly energy efficient coreless printed circuit board (PCB) step-down transformers useful for stringent height DC-DC converter applications, where the core losses are being completely eliminated. These transformers also maintain the advantages offered by existing core based transformers such as, high coupling coefficient, sufficient input impedance, high energy efficiency and wide frequencyband width with the assistance of a resonant technique. In this regard, several coreless PCB step down transformers of different turn’s ratio for power transfer applications have been designed and evaluated. The designed multilayered coreless PCB transformers for telecom and PoE applications of 8,15 and 30W show that the volume reduction of approximately 40 - 90% is possible when compared to its existing core based counterparts while maintaining the energy efficiency of the transformers in the range of 90 - 97%. The estimation of EMI emissions from the designed transformers for the given power transfer application proves that the amount of radiated EMI from a multilayered transformer is lessthan that of the two layered transformer because of the decreased radius for thesame amount of inductance.The design guidelines for the multilayered coreless PCB step-down transformer for the given power transfer application has been proposed. The designed transformer of 10mm radius has been characterized up to the power level of 50Wand possesses a record power density of 107W/cm3 with a peak energy efficiency of 96%. In addition to this, the design guidelines of the signal transformer fordriving the high side MOSFET in double ended converter topologies have been proposed. The measured power consumption of the high side gate drive circuitvitogether with the designed signal transformer is 0.37W. Both these signal andpower transformers have been successfully implemented in a resonant converter topology in the switching frequency range of 2.4 – 2.75MHz for the maximum load power of 34.5W resulting in the peak energy efficiency of converter as 86.5%.This thesis also investigates the indirect effect of the dielectric laminate on the magnetic field intensity and current density distribution in the planar power transformers with the assistance of finite element analysis (FEA). The significanceof the high frequency dielectric laminate compared to FR-4 laminate in terms of energy efficiency of planar power transformers in MHz frequency region is also explored.The investigations were also conducted on different winding strategies such as conventional solid winding and the parallel winding strategies, which play an important role in the design and development of a high frequency transformer and suggested a better choice in the case of transformers operating in the MHz frequency region.In the second part of the thesis, a novel planar power transformer with hybrid core structure has been designed and evaluated in the MHz frequency region. The design guidelines of the energy efficient high frequency planar power transformerfor the given power transfer application have been proposed. The designed corebased planar transformer has been characterized up to the power level of 50W and possess a power density of 47W/cm3 with maximum energy efficiency of 97%. This transformer has been evaluated successfully in the resonant converter topology within the switching frequency range of 3 – 4.5MHz. The peak energy efficiency ofthe converter is reported to be 92% and the converter has been tested for the maximum power level of 45W, which is suitable for consumer applications such as laptop adapters. In addition to this, a record power density transformer has been designed with a custom made pot core and has been characterized in thefrequency range of 1 - 10MHz. The power density of this custom core transformer operating at 6.78MHz frequency is 67W/cm3 and with the peak energy efficiency of 98%.In conclusion, the research in this dissertation proposed a solution for obtaining high power density converters by designing the highly integrated, high frequency(1 - 10MHz) coreless and core based planar magnetics with energy efficiencies inthe range of 92 - 97%. This solution together with the latest semiconductor GaN/SiC switching devices provides an excellent choice to meet the requirements of the next generation ultra flat low profile switch mode power supplies (SMPS).
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| 7. |
- Andersson, Kent, et al.
(författare)
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Technology Forecast 2012: Military utility of ten technologies : a report from seminars at the SNDC Department of Military Technology
- 2012
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Ten technology forecast reports from the Fraunhofer Institute have been reviewed by staff at the Department of Military-Technology at the Swedish National Defence College (Note that there probably are other technology areas, equally interesting, but not included in this study). The task given by FMV was to assess the military utility of the chosen technologies in a time frame from 2025 to 2030, from a SwAF viewpoint.The method used was first to make a summary of each forecast report. The technology was then put into one or more scenarios that are assessed to be the best in order to show possible utility as well as possibilities and drawbacks of the technology. Based on a SWOT-analysis, the contribution to SwAF capabilities and the cost in terms of acquisition, C2 footprint, logistic footprint, doctrine/TTP, training, facilities and R&D were assessed. Conclusions regarding the military utility of the technology were drawn.We introduce our definition of military utility as being activities that efficiently and with the lowest cost in terms of lives and materiel lead to fulfilment of the mission objectives.The technologies were grouped in three classes; technologies with a significant potential, with uncertain potential and with negligible potential.The following technologies were assessed to have a significant potential for military utility;Augmented RealityNano air vehiclesSolid State Laser weaponsIn the scenarios studied, Augmented Reality (AR) is assessed to have a positive impact on several SwAF capabilities, especially for C2 and intelligence. AR is a relatively mature technology, applicable in many different branches. There are examples where AR is already applied with great success, e.g. Head-Up-Displays, HUD. The technology has proven its value. However, there are well known drawbacks to the technology such as weaknesses regarding models, increased weight for dismounted soldiers, power consumption etc. There is also a risk that personnel will have problems solving their tasks when AR systems fail, not being used to fighting without supporting systems.Nano air vehicles (NAV’s) have been assessed to contribute to a large range of capabilities, primarily intelligence. Their lifecycle cost has been assessed to be low, since development in this area is commercially driven, bringing down acquisition costs. Also, FAA has decided to allow NAV’s in controlled air space from 2015, which is expected to lead to an increase in civilian use of NAV’s. The technology is relatively mature even though there are obstacles concerning suitable materials, energy efficient propulsion systems as well as miniaturized microprocessors and software to control them.In the scenario studied, High Energy Solid State Lasers are assessed to have a positive impact on SwAF capabilities to engage targets on surface and in the air. The technology can be used to protect vessels on the surface and thereby increase survivability. The development of SSL in the given timeframe is expected to lower cost per shot and avoid the environmental problems with use of chemical lasers. Neighbouring military powers are expected to use laser weapons in the future, therefore SwAF should monitor the development of the laser weapons technology and develop and purchase adequate countermeasures.The following technologies were assessed to have uncertain potential for military utility;Metamaterial cloakingElectromagnetic gunSmall satellitesUltra-violet communicationMetamaterial cloaking, if realisable in the future, is assessed to be firstly implemented in the acoustic spectrum, since manufacturing of small structured cloaks for the shorter wavelengths in the optic and radar spectra is believed to be more difficult. Cloaking of submarines is primarily assessed to increase the survivability against torpedoes having active sonar. The use of cloaked mines could pose a deterring threat, even to advanced amphibious operations against Sweden. The technological development in this area should be closely monitored and compared to existing, maturing techniques for countermeasures and for the development of broad spectrum active torpedoes. The greatest concern is that cloaking will have negative impact on submarine manoeuvrability.The electro-thermal chemical (ETC) gun seems to be a first step towards a fully electrical gun such as the rail-gun or the coil-gun. The fully electrical guns have been a work in progress for some decades and there are still remaining challenges both concerning electrical power supply and design materials. When or if, they will be operational is difficult to say.The military utility of small satellites is disputed, despite an assessed contribution to several of the SwAF capabilities. The main reason for this is that there seems to be other alternatives which provide the desired capabilities, at a lower cost. Furthermore, the realisability and performance of small productionline manufactured nanosatellites is uncertain. However the scenario has shown that there are benefits to the military utility not met by other resources, e.g. the capability to perform surveillance and reconnaissance in operational areas globally without risking violation of the territorial integrity of other states or the lives of military personnel. Since there is a great interest in the technology area and several programmes are ongoing internationally the knowledgebase is assessed to be significantly better in a five year period. Also, the Swedish in depth study of space exploitation is soon to report.Ultra-violet communication has uncertain potential for military utility within the period, but the technology is assessed to have a positive impact on SwAF capability to maintain communications. The theoretical understanding of the area is low It is therefore uncertain if systems can be realized in the time frame. However, if commercial applications are developed, the prospect of military applications might change. In that case UV-communication could be a complement to RF- communication but is not foreseen to replace it. The following technologies were assessed to have negligible potential for military utility;Biomimetic unmanned underwater vehicles (UUV)Automated behaviour AnalysisEvolutionary RoboticsBiomimetic UUV’s could be used for covert surveillance and inconspicuous naval reconnaissance missions at sea or in amphibious missions. Even though the report focuses on fishlike propulsion, the military utility of UUV’s is assessed to be mostly dependent on the development of advanced automation and learning systems. As of now, we assess other existing technologies as being preferable due to lower cost and less complexity. The performance of UUV’s needed for SwAF capabilities are assessed to be far off into the future. Simpler UUV systems could however be used by potential adversaries for monitoring our own base areas and hence the development should be monitored from a protection point of view.Automated behaviour analysis may be of some relevance for increased security screening and surveillance. The primary military utility of the technology will however probably be for international activities and to a lesser extent for increased base security in Sweden. Generally the main applications for this kind of technology are assessed to be for civilian use in public spaces and close to high value areas like airports, important official buildings and other similar objects.Evolutionary Robotics, here restricted to the sub domain Advanced Robotics, has uncertain potential for military utility within the period. In the scenarios studied the technology is assessed to have a positive impact on a broad range of SwAF capabilities. The area is large and inconsistent comprising sub areas that are assessed to have significant potential, but also those that are believed to have negligible potential or where technological obstacles might retard the development.Our evaluation of the used method shows that there is a risk that the assessment is biased by the participating experts’ presumptions and experiences from their own field of research. The scenarios that were chosen do not cover all possible aspects of the technology and their possible contribution to operational capabilities. It should be stressed that we have assessed the ten technologies’ military utility in the presented scenarios, not the technology itself. The chosen definition of military utility clearly affects the result of the study. The definition is believed to be good enough for this report, but could be further elaborated in the future.The greatest value of the method used is its simplicity, cost effectiveness and the trade off that it promotes learning within the working group. The composition of the working group and the methodology used is believed to provide for a broad and balanced coverage of the technologies under study.
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| 8. |
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| 9. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 10. |
- Austeng, Dordi, et al.
(författare)
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Incidence of and risk factors for neonatal morbidity after active perinatal care : extremely preterm infants study in Sweden (EXPRESS)
- 2010
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 99:7, s. 978-992
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Tidskriftsartikel (refereegranskat)abstract
- Aims: The aim of this study was to determine the incidence of neonatal morbidity in extremely preterm infants and to identify associated risk factors. Methods: Population based study of infants born before 27 gestational weeks and admitted for neonatal intensive care in Sweden during 2004-2007. Results: Of 638 admitted infants, 141 died. Among these, life support was withdrawn in 55 infants because of anticipation of poor long-term outcome. Of 497 surviving infants, 10% developed severe intraventricular haemorrhage (IVH), 5.7% cystic periventricular leucomalacia (cPVL), 41% septicaemia and 5.8% necrotizing enterocolitis (NEC); 61% had patent ductus arteriosus (PDA) and 34% developed retinopathy of prematurity (ROP) stage >= 3. Eighty-five per cent needed mechanical ventilation and 25% developed severe bronchopulmonary dysplasia (BPD). Forty-seven per cent survived to one year of age without any severe IVH, cPVL, severe ROP, severe BPD or NEC. Tocolysis increased and prolonged mechanical ventilation decreased the chances of survival without these morbidities. Maternal smoking and higher gestational duration were associated with lower risk of severe ROP, whereas PDA and poor growth increased this risk. Conclusion: Half of the infants surviving extremely preterm birth suffered from severe neonatal morbidities. Studies on how to reduce these morbidities and on the long-term health of survivors are warranted.
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