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- 2019
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Tidskriftsartikel (refereegranskat)
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- Sampson, Joshua N., et al.
(författare)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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- Du, Haifeng, et al.
(författare)
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Interaction of Individual Skyrmions in a Nanostructured Cubic Chiral Magnet
- 2018
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Ingår i: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 120:19
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Tidskriftsartikel (refereegranskat)abstract
- We report direct evidence of the field-dependent character of the interaction between individual magnetic skyrmions as well as between skyrmions and edges in B20-type FeGe nanostripes observed by means of high-resolution Lorentz transmission electron microscopy. It is shown that above certain critical values of an external magnetic field the character of such long-range skyrmion interactions changes from attraction to repulsion. Experimentally measured equilibrium inter-skyrmion and skyrmion-edge distances as a function of the applied magnetic field shows quantitative agreement with the results of micromagnetic simulations. The important role of demagnetizing fields and the internal symmetry of three-dimensional magnetic skyrmions are discussed in detail.
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| 5. |
- Dudding, Tom, et al.
(författare)
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Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci
- 2019
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 10, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.
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- Ferreira, Manuel A R, et al.
(författare)
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Eleven loci with new reproducible genetic associations with allergic disease risk.
- 2019
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Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier BV. - 0091-6749 .- 1097-6825. ; 143:2, s. 691-699
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever, and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities.OBJECTIVE: We sought to identify novel risk loci shared between asthma, hay fever, and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 subjects.METHODS: We used approximate conditional analysis to adjust the results from the published GWAS for the effects of the top risk variants identified in that study. We then analyzed the adjusted GWAS results with the EUGENE gene-based approach, which combines evidence for association with disease risk across regulatory variants identified in different tissues. Novel gene-based associations were followed up in an independent sample of 233,898 subjects from the UK Biobank study.RESULTS: Of the 19,432 genes tested, 30 had a significant gene-based association at a Bonferroni-corrected P value of 2.5 × 10-6. Of these, 20 were also significantly associated (P < .05/30 = .0016) with disease risk in the replication sample, including 19 that were located in 11 loci not reported to contain allergy risk variants in previous GWASs. Among these were 9 genes with a known function that is directly relevant to allergic disease: FOSL2, VPRBP, IPCEF1, PRR5L, NCF4, APOBR, IL27, ATXN2L, and LAT. For 4 genes (eg, ATXN2L), a genetically determined decrease in gene expression was associated with decreased allergy risk, and therefore drugs that inhibit gene expression or function are predicted to ameliorate disease symptoms. The opposite directional effect was observed for 14 genes, including IL27, a cytokine known to suppress TH2 responses.CONCLUSION: Using a gene-based approach, we identified 11 risk loci for allergic disease that were not reported in previous GWASs. Functional studies that investigate the contribution of the 19 associated genes to the pathophysiology of allergic disease and assess their therapeutic potential are warranted.
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- Kristanl, Matej, et al.
(författare)
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The Seventh Visual Object Tracking VOT2019 Challenge Results
- 2019
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Ingår i: 2019 IEEE/CVF INTERNATIONAL CONFERENCE ON COMPUTER VISION WORKSHOPS (ICCVW). - : IEEE COMPUTER SOC. - 9781728150239 ; , s. 2206-2241
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Konferensbidrag (refereegranskat)abstract
- The Visual Object Tracking challenge VOT2019 is the seventh annual tracker benchmarking activity organized by the VOT initiative. Results of 81 trackers are presented; many are state-of-the-art trackers published at major computer vision conferences or in journals in the recent years. The evaluation included the standard VOT and other popular methodologies for short-term tracking analysis as well as the standard VOT methodology for long-term tracking analysis. The VOT2019 challenge was composed of five challenges focusing on different tracking domains: (i) VOT-ST2019 challenge focused on short-term tracking in RGB, (ii) VOT-RT2019 challenge focused on "real-time" short-term tracking in RGB, (iii) VOT-LT2019 focused on long-term tracking namely coping with target disappearance and reappearance. Two new challenges have been introduced: (iv) VOT-RGBT2019 challenge focused on short-term tracking in RGB and thermal imagery and (v) VOT-RGBD2019 challenge focused on long-term tracking in RGB and depth imagery. The VOT-ST2019, VOT-RT2019 and VOT-LT2019 datasets were refreshed while new datasets were introduced for VOT-RGBT2019 and VOT-RGBD2019. The VOT toolkit has been updated to support both standard short-term, long-term tracking and tracking with multi-channel imagery. Performance of the tested trackers typically by far exceeds standard baselines. The source code for most of the trackers is publicly available from the VOT page. The dataset, the evaluation kit and the results are publicly available at the challenge website(1).
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| 8. |
- Lu, Xiaotian, et al.
(författare)
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Climate change induced eutrophication of cold-water lake in an ecologically fragile nature reserve
- 2019
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Ingår i: Journal of Environmental Sciences (China). - : Elsevier BV. - 1001-0742 .- 1878-7320. ; 75, s. 359-369
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Tidskriftsartikel (refereegranskat)abstract
- © 2018 Aquatic ecosystem sustainability around the globe is facing crucial challenges because of increasing anthropogenic and natural disturbances. In this study, the Tianchi Lake, a typical cold-water lake and a UNESCO/MAB (Man and Biosphere) nature reserve located in high latitude and elevation with the relatively low intensity of human activity was chosen as a system to examine the linkages between climate change and eutrophication. As a part of the UNESCO Bogda Man and Biosphere Reserve, Tianchi Lake has been well preserved for prevention from human intervention, but why has it been infected with eutrophication recent years? Our results show that climate change played a significant role in the eutrophication in the Tianchi Lake. Increased temperature, changed precipitation pattern and wind-induced hydrodynamic fluctuations in the summer season were suggested to make a major contribution to the accelerated eutrophication. The results also showed that the local temperature and precipitation changes were closely linked to the large-scale atmospheric circulation, which opens the door for the method to be applied in other regions without local climatic information. This study suggests that there is an urgent need to take into consideration of climate change adaptation into the conservation and management of cold-water lakes globally.
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| 9. |
- Lu, Yonglong, et al.
(författare)
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Interaction between pollution and climate change augments ecological risk to a coastal ecosystem
- 2018
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Ingår i: Ecosystem Health and Sustainability. - : American Association for the Advancement of Science (AAAS). - 2096-4129 .- 2332-8878. ; 4:7, s. 161-168
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Tidskriftsartikel (refereegranskat)abstract
- Pollution and climate change are among the most challenging issues for countries with developing economies, but we know little about the ecological risks that result when these pressures occur together. We explored direct effects of, and interactions between, environmental pollution and climate change on ecosystem health in the Bohai Sea region of Northern China. We developed an integrated approach to assess ecological risks to this region under four scenarios of climate change. Although ecological risks to the system from pollution alone have been declining, interactions between pollution and climate change have enhanced ecological risks to this coastal/marine ecosystem. Our results suggest that current policies focused strictly on pollution control alone should be changed to take into account the interactive effects of climate change so as to better forecast and manage potential ecological risks.
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| 10. |
- Tian, Ke, et al.
(författare)
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Effect of blockage configuration on film cooling with and without mist injection
- 2018
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Ingår i: Energy. - : Elsevier BV. - 0360-5442. ; 153, s. 661-670
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Tidskriftsartikel (refereegranskat)abstract
- Film cooling, as an effective protection technology, is widely applied in gas turbines to prevent components like vane blades from the hot mainstream. However, ash and other contaminants contained in the gas easily deposit on blade surfaces, which results in blockages inside the film holes and a reduction of the coverage area of the coolant air. Two blockage configurations (hemispherical and tetrahedral blockages) with a similar blockage ratio are analyzed in this study. In addition, mist injection with three droplet sizes (1 μm, 5 μm and 10 μm) is also considered. It is found that the position of the blockage configuration shows almost no influence on the cooling performance. In addition, the hemispherical blockage configuration results in a lower lateral film cooling effectiveness than the tetrahedral one. Finally, it is also concluded that the 5 μm droplet case shows more uniform distribution than other cases.
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