| 1. |
- 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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| 2. |
- Shungin, Dmitry, et al.
(författare)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Tidskriftsartikel (refereegranskat)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 3. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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| 4. |
- Hartley, Philippa, et al.
(författare)
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SKA Science Data Challenge 2: analysis and results
- 2023
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Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 523:2, s. 1967-1993
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Tidskriftsartikel (refereegranskat)abstract
- The Square Kilometre Array Observatory (SKAO) will explore the radio sky to new depths in order to conduct transformational science. SKAO data products made available to astronomers will be correspondingly large and complex, requiring the application of advanced analysis techniques to extract key science findings. To this end, SKAO is conducting a series of Science Data Challenges, each designed to familiarize the scientific community with SKAO data and to drive the development of new analysis techniques. We present the results from Science Data Challenge 2 (SDC2), which invited participants to find and characterize 233 245 neutral hydrogen (H i) sources in a simulated data product representing a 2000 h SKA-Mid spectral line observation from redshifts 0.25-0.5. Through the generous support of eight international supercomputing facilities, participants were able to undertake the Challenge using dedicated computational resources. Alongside the main challenge, 'reproducibility awards' were made in recognition of those pipelines which demonstrated Open Science best practice. The Challenge saw over 100 participants develop a range of new and existing techniques, with results that highlight the strengths of multidisciplinary and collaborative effort. The winning strategy - which combined predictions from two independent machine learning techniques to yield a 20 per cent improvement in overall performance - underscores one of the main Challenge outcomes: that of method complementarity. It is likely that the combination of methods in a so-called ensemble approach will be key to exploiting very large astronomical data sets.
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| 5. |
- Alberto, H. V., et al.
(författare)
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Low energy muon study of the p-n interface in chalcopyrite solar cells
- 2023
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Ingår i: Journal of Physics, Conference Series. - : Institute of Physics Publishing (IOPP). - 1742-6588 .- 1742-6596. ; 2462
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Tidskriftsartikel (refereegranskat)abstract
- The slow muon technique was used to study the p-n junction of chalcopyrite solar cells. A defect layer near the interface was identified and the passivation of the defects by buffer layers was studied. Several cover layers on top of the chalcopyrite Cu(In,Ga)Se2 (CIGS) semiconductor absorber were investigated in this work, namely CdS, ZnSnO, Al2O3 and SiO2. Quantitative results were obtained: The defect layer extends about 50 nm into the CIGS absorber, the relevant disturbance is strain in the lattice, and CdS provides the best passivation, oxides have a minor effect. In the present contribution, specific aspects of the low-energy muon technique in connection with this research are discussed.
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| 6. |
- Curado, M. A., et al.
(författare)
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Front passivation of Cu(In,Ga)Se-2 solar cells using Al2O3 : Culprits and benefits
- 2020
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Ingår i: APPLIED MATERIALS TODAY. - : ELSEVIER. - 2352-9407. ; 21
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Tidskriftsartikel (refereegranskat)abstract
- In the past years, the strategies used to break the Cu(In,Ga)Se-2 (CIGS) light to power conversion efficiency world record value were based on improvements of the absorber optoelectronic and crystalline properties, mainly using complex post-deposition treatments. To reach even higher efficiency values, further advances in the solar cell architecture are needed, in particular, with respect to the CIGS interfaces. In this study, we evaluate the structural, morphological and optoelectronic impact of an Al2O3 layer as a potential front passivation layer on the CIGS properties, as well as an Al2O3 tunneling layer between CIGS and CdS. Morphological and structural analyses reveal that the use of Al2O3 alone is not detrimental to CIGS, although it does not resist to the CdS chemical bath deposition. The CIGS optoelectronic properties degrade when the CdS is deposited on top of Al2O3. Nonetheless, when Al2O3 is used alone, the optoelectronic measurements reveal a positive impact of this inclusion such as a very low concentration of interface defects while keeping the same CIGS recombination channels. Thus, we suggest that an Al2O3 front passivation layer can be successfully used with alternative buffer layers. Depth-resolved microscopic analysis of the CIGS interface with slow-muons strongly suggests for the first time that low-energy muon spin spectroscopy (LE-mu SR) is sensitive to both charge carrier separation and bulk recombination in complex semiconductors. The demonstration that Al2O3 has the potential to be used as a front passivation layer is of significant importance, considering that Al2O3 has been widely studied as rear interface passivation material. (C) 2020 Published by Elsevier Ltd.
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| 7. |
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| 8. |
- Mijovilovich, Ana, et al.
(författare)
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The Interpretation of Sulfur K-edge XANES spectra: A case Study on Thiophene and Aliphatic Sulfur Compounds
- 2009
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Ingår i: The Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455 .- 1089-5639 .- 1520-5215. ; 113, s. 2750-2756
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Tidskriftsartikel (refereegranskat)abstract
- Sulfur K-edge XANES has been measured for three sulfur model compounds, dibenzothiophene, dibenzothiophene sulfone, and aliphatic sulfur (DL-methionine). The spectra have been simulated with Density Functional Theory (DFT) using a number of methods, including the half core hole approximation. Dipole transition elements were calculated and the transitions were convoluted with linearly increasing Gaussian functions in the first 20 eV of the near edge region. In the case of dibenzothiophene, relaxation of the first excited states in the presence of the core-hole gave a further improvement. The theoretical results reproduce well the features of the spectra and give insight in the relation between geometric structure and molecular orbitals. Though DL-methionine and dibenzothiophene show a similar sharp rise of the white line, their molecular levels are quite different, pointing out the difficulties in finding useful “fingerprints” in the spectra for specific compounds.
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| 9. |
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| 10. |
- Alberto, Helena, V, et al.
(författare)
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Characterization of the Interfacial Defect Layer in Chalcopyrite Solar Cells by Depth-Resolved Muon Spin Spectroscopy
- 2022
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Ingår i: Advanced Materials Interfaces. - : John Wiley & Sons. - 2196-7350. ; 9:19
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Tidskriftsartikel (refereegranskat)abstract
- As devices become smaller and more complex, the interfaces between adjacent materials become increasingly important and are often critical to device performance. An important research goal is to improve the interface between the absorber and the window layer by inserting buffer layers to adjust the transition. Depth-resolved studies are key for a fundamental understanding of the interface. In the present experiment, the interface between the chalcopyrite Cu(In,Ga)Se-2 absorber and various buffer layers are investigated using low-energy muon spin rotation (mu SR) spectroscopy. Depth resolution in the nm range is achieved by implanting the muons with different energies so that they stop at different depths in the sample. Near the interface, a region about 50 nm wide is detected where the lattice is more distorted than further inside the absorber. The distortion is attributed to the long-range strain field caused by defects. These measurements allow a quantification of the corresponding passivation effect of the buffer layer. Bath-deposited cadmium sulfide provides the best defect passivation in the near interface region, in contrast to the dry-deposited oxides, which have a much smaller effect. The experiment demonstrates the great potential of low energy mu SR spectroscopy for microscopic interfacial studies of multilayer systems.
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