| 1. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 2. |
- Conti, David, V, et al.
(författare)
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
- 2021
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:1, s. 65-75
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Tidskriftsartikel (refereegranskat)abstract
- Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction. A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.
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| 3. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)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.
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| 4. |
- Abate, E., et al.
(författare)
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Combined performance tests before installation of the ATLAS Semiconductor and Transition Radiation Tracking Detectors
- 2008
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- The ATLAS (A Toroidal LHC ApparatuS) Inner Detector provides charged particle tracking in the centre of the ATLAS experiment at the Large Hadron Collider (LHC). The Inner Detector consists of three subdetectors: the Pixel Detector, the Semiconductor Tracker (SCT), and the Transition Radiation Tracker (TRT). This paper summarizes the tests that were carried out at the final stage of SCT+TRT integration prior to their installation in ATLAS. The combined operation and performance of the SCT and TRT barrel and endcap detectors was investigated through a series of noise tests, and by recording the tracks of cosmic rays. This was a crucial test of hardware and software of the combined tracker detector systems. The results of noise and cross-talk tests on the SCT and TRT in their final assembled configuration, using final readout and supply hardware and software, are reported. The reconstruction and analysis of the recorded cosmic tracks allowed testing of the offline analysis chain and verification of basic tracker performance parameters, such as efficiency and spatial resolution, in combined operation before installation.
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| 5. |
- Adomas, Aleksandra, et al.
(författare)
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Identification and analysis of differentially expressed cDNAs during nonself-competitive interaction between Phlebiopsis gigantea and Heterobasidion parviporum
- 2006
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Ingår i: FEMS Microbiology Ecology. - : Blackwell Publishing. - 0168-6496 .- 1574-6941. ; 57:1, s. 26-39
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Tidskriftsartikel (refereegranskat)abstract
- The molecular factors regulating interspecific interaction between the saprotrophic biocontrol fungus Phlebiopsis gigantea and the conifer pathogen Heterobasidion parviporum were investigated. We constructed cDNA libraries and used expressed sequence tag analysis for the identification and characterization of genes expressed during the self and nonself-hyphal interaction. cDNA clones from either the pathogen or biocontrol agent were arrayed on nylon membrane filters and differentially screened with cDNA probes made from mycelia forming the barrage zone during nonself-interactions, mycelia growing outside the barrage zones or monocultures. BlastX analysis of the differentially expressed clones led to the identification of genes with diverse functions, including those with potential as virulence factors, such as hydrophobins. Because of the high sequence conservation (r2 = 0.81) between P. gigantea and H. parviporum, a selected number of genes from either fungus were used to monitor the expression profile under varying interaction conditions by virtual northern blot. The results are discussed with respect to the potential role of the induced genes during the nonself-competitive interaction for space and nutrients between P. gigantea and H. parviporum.
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| 6. |
- Barreflod, Olle, et al.
(författare)
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Studying the ability to use sport watches when running - insights from a small pilot study
- 2022
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Ingår i: ECIS 2022 Research-in-Progress Papers.
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Konferensbidrag (refereegranskat)abstract
- Digitalization is a phenomenon that seems to affect all aspects of contemporary society. The sports domain is by no means excluded from this development. In sports, the sport watch might be one of the most iconic symbols in how digitalization has enhanced, changed and developed how physical activities are experienced and measured. Despite the massive adoption of sport watches among runners and other athletes, few studies have explored how sports watches are used in the specific activity they are designed for. The study presented in this research in progress paper is small and should be viewed as a small attempt to outline an approach to study digital technology use in sports activities.
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| 7. |
- Christensen, Martin, 1982-, et al.
(författare)
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Sculpting with SARA (Spatial Augmented Reality Assistance)
- 2023
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- We explored how spatial augmented reality can assist sculpting in the physicalspace based on a digital 3D-model. As a result of our findings we propose asetup of software and hardware as well as methods to use these (SARA), thatcan visually guide an artist in the work of manual transfer of digital to physicalthree-dimensional form. As a tool SARA could be used much more loosely; therelationship between a digital 3D sketch and a finished sculpture canconceptually be thought of as similar to a rough underdrawing and a finished oilpainting. In this case, the 3d sketch is there as an initial idea and a guide, but notas a ground truth. Beyond the scope of this project, SARA could be furtherexplored in relation to artistic questions. In practical terms, SARA works in thefollowing way: The colors projected during sculpting indicate how much thedistance deviates from the digital sketch in relation to the projector. The colorsare updated in real-time, as a 3D depth camera is continuously scanning theworking space.
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| 8. |
- Eklund, Lina, et al.
(författare)
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Data and methods in the environment-migration nexus : A scale perspective
- 2016
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Ingår i: Die Erde. - 0013-9998. ; 147:2, s. 139-152
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Forskningsöversikt (refereegranskat)abstract
- The relationship between environment and migration has gained increased attention since the 1990s when the Intergovernmental Panel on Climate Change projected climate change to become a major driver of human migration. Evaluations of this relationship include both quantitative and qualitative assessments. This review article introduces the concept of scale to environment-migration research as an important methodological issue for the reliability of conclusions drawn. The review of case studies shows that scale issues are highly present in environment-migration research but rarely discussed. Several case studies base their results on data at very coarse resolutions that have undergone strong modifications and generalizations. We argue that scale-related shortcomings must be considered in all stages of environment-migration research.
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| 9. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 10. |
- Martin, Martin, et al.
(författare)
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Classification of Industrial Symbiosis Synergies : Application in the Biofuels Industry
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Much of the current literature available in the field of industrial symbiosis aims at providing a review of the symbiotic intensity, institutional and environmental contexts and assessments of the activities involved in a synoptic manner. However, literature regarding classification methods for individual material and energy exchanges is limited. In order to obtain better resolution of the characteristics of exchanges and interactions, i.e. synergies, a classification method is produced and tested in this paper. The classification method maps the interactions between different industries as well as the flows of products and utilities through origindestination classifications. Synergies between a core industry and external industries are examined in this paper, with the core industry represented by the biofuels industry, and without geographical boundaries. The classification method can be employed in other research projects and it is hoped that it will provide the background for further studies into conditions necessary for synergy implementation. Furthermore the classification method will provide subsequent details for research into economic and environmental benefits provided by synergies between industries.
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