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| 2. |
- Chauhan, G., et al.
(författare)
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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
- 2019
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 92:5
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveTo explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts.MethodsWe performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI.ResultsThe mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 x 10(-8); and LINC00539/ZDHHC20, p = 5.82 x 10(-9). Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p([BI]) = 9.38 x 10(-25); p([SSBI]) = 5.23 x 10(-14) for hypertension), smoking (p([BI]) = 4.4 x 10(-10); p([SSBI]) = 1.2 x 10(-4)), diabetes (p([BI]) = 1.7 x 10(-8); p([SSBI]) = 2.8 x 10(-3)), previous cardiovascular disease (p([BI]) = 1.0 x 10(-18); p([SSBI]) = 2.3 x 10(-7)), stroke (p([BI]) = 3.9 x 10(-69); p([SSBI]) = 3.2 x 10(-24)), and MRI-defined white matter hyperintensity burden (p([BI]) = 1.43 x 10(-157); p([SSBI]) = 3.16 x 10(-106)), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p 0.0022), without indication of directional pleiotropy.ConclusionIn this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significant modifiable, causal risk factor for BI.
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| 3. |
- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 4. |
- Porcu, E, et al.
(författare)
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Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3300-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified thousands of variants associated with complex traits, but their biological interpretation often remains unclear. Most of these variants overlap with expression QTLs, indicating their potential involvement in regulation of gene expression. Here, we propose a transcriptome-wide summary statistics-based Mendelian Randomization approach (TWMR) that uses multiple SNPs as instruments and multiple gene expression traits as exposures, simultaneously. Applied to 43 human phenotypes, it uncovers 3,913 putatively causal gene–trait associations, 36% of which have no genome-wide significant SNP nearby in previous GWAS. Using independent association summary statistics, we find that the majority of these loci were missed by GWAS due to power issues. Noteworthy among these links is educational attainment-associated BSCL2, known to carry mutations leading to a Mendelian form of encephalopathy. We also find pleiotropic causal effects suggestive of mechanistic connections. TWMR better accounts for pleiotropy and has the potential to identify biological mechanisms underlying complex traits.
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| 7. |
- Kovacic, M., et al.
(författare)
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Light management design in ultra-thin chalcopyrite photovoltaic devices by employing optical modelling
- 2019
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Ingår i: Solar Energy Materials and Solar Cells. - : ELSEVIER. - 0927-0248 .- 1879-3398. ; 200
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Tidskriftsartikel (refereegranskat)abstract
- In ultra-thin chalcopyrite solar cells and photovoltaic modules, efficient light management is required to increase the photocurrent and to gain in conversion efficiency. In this work we employ optical modelling to investigate different optical approaches and quantify their potential improvements in the short-circuit current density of Cu (In, Ga)Se-2 (CIGS) devices. For structures with an ultra-thin (500 nm) CIGS absorber, we study the improvements related to the introduction of (i) highly reflective metal back reflectors, (ii) internal nano-textures applied to the substrate and (iii) external micro-textures by using a light management foil. In the analysis we use CIGS devices in a PV module configuration, thus, solar cell structure including encapsulation and front glass. A thin Al2O3 layer was considered in the structure at the rear side of CIGS for passivation and diffusion barrier for metal reflectors. We show that not any individual aforementioned approach is sufficient to compensate for the short circuit drop related to ultra-thin absorber, but a combination of a highly reflective back contact and textures (internal or external) is needed to obtain and also exceed the short-circuit current density of a thick (1800 nm) CIGS absorber.
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| 8. |
- Kovacic, M., et al.
(författare)
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Modelling Supported Design of Light Management Structures in Ultra-Thin Cigs Photovoltaic Devices
- 2019
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Ingår i: Informacije midem. - : Drustvo MIDEM. - 0352-9045. ; 49:3, s. 183-190
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Tidskriftsartikel (refereegranskat)abstract
- Chalcopyrite solar cells exhibit one of the highest conversion efficiencies among thin-film solar cell technologies (> 23.3%), however a considerably thick absorber >= 1.8 mu m is required for an efficient absorption of the long-wavelength light and collection of charge carriers. In order to minimize the material consumption and to accelerate the fabrication process, further thinning down of the absorber layer is important. Using a thin absorber layer results in a highly reduced photocurrent density and to compensate for it an effective light management needs to be introduced. Experimentally supported, advanced optical simulations in a PV module configuration, i.e. solar cell structure including the encapsulation and front glass are employed to design solutions to increase the short current density of devices with ultra-thin (500 nm) absorbers. In particular (i) highly reflective metal back reflector (BR), (ii) internal nano-textures and (iii) external textures by applying a light management (LM) foil are investigated by simulations. Experimental verification of simulation results is presented for the external texture case. In the scope of this contribution we show that any individual aforementioned approach is not sufficient to compensate for the short circuit current drop of the thin CIGS, but only a combination of highly reflective back contact and introduction of textures (internal or external) is able to compensate and also to exceed (by more than 5 % for internal texture) photocurrent density of a thick (1800 nm) CIGS absorber.
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| 9. |
- Edoff, Marika, 1965-, et al.
(författare)
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Ultrathin CIGS Solar Cells with Passivated and Highly Reflective Back Contacts – : Results from the ARCIGS-M Consortium
- 2019
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Ingår i: Proceedings of 36th European Photovoltaic Solar Energy Conference and Exhibition. ; , s. 597-600
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- In this work, we report results from the EU-funded project ARCIGS-M. The project started in 2016 and aims to reduce the use of indium and gallium by enabling the use of very thin Cu(In,Ga)Se2 (CIGS) layers while retaining high efficiency and developing innovative low-cost steel substrates as alternatives to glass. In the project, reflective layers containing TCO´s and silver have successfully been used to enhance the reflective properties of the rear contact. In addition, passivation layers based on alumina (Al2O3) deposited by atomic layer deposition (ALD) have been found to yield good passivation of the rear contact. Since the alumina layers are dielectric, perforation of these layers is necessary to provide adequate contacting. The design of the perforation patterns has been investigated by a combination of modeling and experimental verification by electron beam lithography. In parallel a nano-imprint lithography (NIL) process is further developed for scale-up and application in prototype modules. Advanced optoelectrical characterization supported by modeling is used to fill in the missing gaps in optical and electrical properties, regarding CIGS, interfaces and back contact materials.
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| 10. |
- Ismail, Ahmed S. M., et al.
(författare)
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Atomic-Scale Investigation of the Structural and Electronic Properties of Cobalt-Iron Bimetallic Fischer-Tropsch Catalysts
- 2019
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Ingår i: ACS Catalysis. - : American Chemical Society (ACS). - 2155-5435 .- 2155-5435. ; 9:9, s. 7998-8011
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Tidskriftsartikel (refereegranskat)abstract
- Supported cobalt and iron catalysts are important for many catalytic processes. It is believed that combining both elements in a bimetallic catalyst would result in a synergetic catalytic activity during Fischer-Tropsch Synthesis. However, the nature of the interaction between the two elements and its effect on their catalytic properties are not well understood. In the present work, we report the synthesis of carbon-nanotube-supported Co-Fe alloy catalysts using colloidal chemistry methods. The ratios of Co-Fe and their homogeneous distribution in the supported nanoparticles were confirmed using local and bulk characterization techniques. We observed the formation of Co-Fe Janus-like alloy structure and a change of their elemental distribution at the nanoparticle scale upon reduction. The bimetallic catalyst showed reasonable Fischer-Tropsch catalytic activity and selectivity to C5+ hydrocarbons when compared with monometallic iron and cobalt catalysts. Finally, we found that the active phase of the Co-Fe bimetallic species during catalysis depends on the catalytic conditions.
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