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| 2. |
- 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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| 3. |
- Alkema, Leontine, et al.
(författare)
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Global, regional, and national levels and trends in maternal mortality between 1990 and 2015, with scenario-based projections to 2030 : a systematic analysis by the UN Maternal Mortality Estimation Inter-Agency Group
- 2016
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Ingår i: The Lancet. - : Elsevier. - 0140-6736 .- 1474-547X. ; 387:10017, s. 462-474
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Millennium Development Goal 5 calls for a 75% reduction in the maternal mortality ratio (MMR) between 1990 and 2015. We estimated levels and trends in maternal mortality for 183 countries to assess progress made. Based on MMR estimates for 2015, we constructed projections to show the requirements for the Sustainable Development Goal (SDG) of less than 70 maternal deaths per 100,000 livebirths globally by 2030.METHODS: We updated the UN Maternal Mortality Estimation Inter-Agency Group (MMEIG) database with more than 200 additional records (vital statistics from civil registration systems, surveys, studies, or reports). We generated estimates of maternal mortality and related indicators with 80% uncertainty intervals (UIs) using a Bayesian model. The model combines the rate of change implied by a multilevel regression model with a time-series model to capture data-driven changes in country-specific MMRs, and includes a data model to adjust for systematic and random errors associated with different data sources.RESULTS: We had data for 171 of 183 countries. The global MMR fell from 385 deaths per 100,000 livebirths (80% UI 359-427) in 1990, to 216 (207-249) in 2015, corresponding to a relative decline of 43·9% (34·0-48·7), with 303,000 (291,000-349,000) maternal deaths worldwide in 2015. Regional progress in reducing the MMR since 1990 ranged from an annual rate of reduction of 1·8% (0·0-3·1) in the Caribbean to 5·0% (4·0-6·0) in eastern Asia. Regional MMRs for 2015 ranged from 12 deaths per 100,000 livebirths (11-14) for high-income regions to 546 (511-652) for sub-Saharan Africa. Accelerated progress will be needed to achieve the SDG goal; countries will need to reduce their MMRs at an annual rate of reduction of at least 7·5%.INTERPRETATION: Despite global progress in reducing maternal mortality, immediate action is needed to meet the ambitious SDG 2030 target, and ultimately eliminate preventable maternal mortality. Although the rates of reduction that are needed to achieve country-specific SDG targets are ambitious for most high mortality countries, countries that made a concerted effort to reduce maternal mortality between 2000 and 2010 provide inspiration and guidance on how to accomplish the acceleration necessary to substantially reduce preventable maternal deaths.FUNDING: National University of Singapore, National Institute of Child Health and Human Development, USAID, and the UNDP/UNFPA/UNICEF/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction.
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| 4. |
- Dong, Yan, et al.
(författare)
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Atom Probe Tomography Interlaboratory Study on Clustering Analysis in Experimental Data Using the Maximum Separation Distance Approach
- 2019
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Ingår i: Microscopy and Microanalysis. - 1435-8115 .- 1431-9276. ; 25:2, s. 356-366
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Tidskriftsartikel (refereegranskat)abstract
- We summarize the findings from an interlaboratory study conducted between ten international research groups and investigate the use of the commonly used maximum separation distance and local concentration thresholding methods for solute clustering quantification. The study objectives are: to bring clarity to the range of applicability of the methods; identify existing and/or needed modifications; and interpretation of past published data. Participants collected experimental data from a proton-irradiated 304 stainless steel and analyzed Cu-rich and Ni-Si rich clusters. The datasets were also analyzed by one researcher to clarify variability originating from different operators. The Cu distribution fulfills the ideal requirements of the maximum separation method (MSM), namely a dilute matrix Cu concentration and concentrated Cu clusters. This enabled a relatively tight distribution of the cluster number density among the participants. By contrast, the group analysis of the Ni-Si rich clusters by the MSM was complicated by a high Ni matrix concentration and by the presence of Si-decorated dislocations, leading to larger variability among researchers. While local concentration filtering could, in principle, tighten the results, the cluster identification step inevitably maintained a high scatter. Recommendations regarding reporting, selection of analysis method, and expected variability when interpreting published data are discussed.
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| 5. |
- Graham, Wendy, et al.
(författare)
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Diversity and divergence : the dynamic burden of poor maternal health
- 2016
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Ingår i: The Lancet. - 0140-6736 .- 1474-547X. ; 388:10056, s. 2164-2175
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Forskningsöversikt (refereegranskat)abstract
- Maternal health is a big issue and is central to sustainable development. Each year, about 210 million women become pregnant and about 140 million newborn babies are delivered-the sheer scale of maternal health alone makes maternal well being and survival vital concerns. In this Series paper, we adopt primarily a numerical lens to illuminate patterns and trends in outcomes, but recognise that understanding of poor maternal health also warrants other perspectives, such as human rights. Our use of the best available evidence highlights the dynamic burden of maternal health problems. Increased diversity in the magnitude and causes of maternal mortality and morbidity between and within populations presents a major challenge to policies and programmes aiming to match varying needs with diverse types of care across different settings. This diversity, in turn, contributes to a widening gap or differences in levels of maternal mortality, seen most acutely in vulnerable populations, predominantly in sub-Saharan Africa. Strong political and technical commitment to improve equity-sensitive information systems is required to monitor the gap in maternal mortality, and robust research is needed to elucidate major interactions between the broad range of health problems. Diversity and divergence are defining characteristics of poor maternal health in the 21st century. Progress on this issue will be an ultimate judge of sustainable development.
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| 6. |
- Hosen, M. Mofazzel, et al.
(författare)
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Distinct multiple fermionic states in a single topological metal
- 2018
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Among the quantum materials that have recently gained interest are the topological insulators, wherein symmetry-protected surface states cross in reciprocal space, and the Dirac nodal-line semimetals, where bulk bands touch along a line in k-space. However, the existence of multiple fermion phases in a single material has not been verified yet. Using angle-resolved photoemission spectroscopy (ARPES) and first-principles electronic structure calculations, we systematically study the metallic material Hf2Te2P and discover properties, which are unique in a single topological quantum material. We experimentally observe weak topological insulator surface states and our calculations suggest additional strong topological insulator surface states. Our first-principles calculations reveal a one-dimensional Dirac crossing—the surface Dirac-node arc—along a high-symmetry direction which is confirmed by our ARPES measurements. This novel state originates from the surface bands of a weak topological insulator and is therefore distinct from the well-known Fermi arcs in semimetals.
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| 7. |
- Hosen, M. Mofazzel, et al.
(författare)
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Tunability of the topological nodal-line semimetal phase in ZrSiX-type materials (X = S, Se, Te)
- 2017
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Ingår i: Physical Review B. - 2469-9950 .- 2469-9969. ; 95:16
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Tidskriftsartikel (refereegranskat)abstract
- The discovery of a topological nodal-line (TNL) semimetal phase in ZrSiS has invigorated the study of other members of this family. Here, we present a comparative electronic structure study of ZrSiX (where X = S, Se, Te) using angle-resolved photoemission spectroscopy (ARPES) and first-principles calculations. Our ARPES studies show that the overall electronic structure of ZrSiX materials comprises the diamond-shaped Fermi pocket, the nearly elliptical-shaped Fermi pocket, and a small electron pocket encircling the zone center (Gamma) point, the M point, and the X point of the Brillouin zone, respectively. We also observe a small Fermi surface pocket along the M-Gamma-M direction in ZrSiTe, which is absent in both ZrSiS and ZrSiSe. Furthermore, our theoretical studies show a transition from nodal-line to nodeless gapped phase by tuning the chalcogenide from S to Te in these material systems. Our findings provide direct evidence for the tunability of the TNL phase in ZrSiX material systems by adjusting the spin-orbit coupling strength via the X anion.
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| 8. |
- Marquis, Emmanuelle A., et al.
(författare)
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On the use of density-based algorithms for the analysis of solute clustering in atom probe tomography data
- 2019
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Ingår i: Minerals, Metals and Materials Series. - Cham : Springer International Publishing. - 2367-1696 .- 2367-1181. ; Part F11, s. 2097-2113
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Konferensbidrag (refereegranskat)abstract
- Because atom probe tomography (APT) provides three-dimensional reconstructions of small volumes by resolving atomic chemical identities and positions, it is uniquely suited to analyze solute clustering phenomena in materials. A number of approaches have been developed to extract clustering information from the 3D reconstructed dataset, and numerous reports can be found applying these methods to a wide variety of materials questions. However, results from clustering analyses can differ significantly from one report to another, even when performed on similar microstructures, raising questions about the reliability of APT to quantitatively describe solute clustering. In addition, analysis details are often not provided, preventing independent confirmation of the results. With the number of APT research groups growing quickly, the APT community recognizes the need for educating new users about common methods and artefacts, and for developing analysis and data reporting protocols that address issues of reproducibility, errors, and variability. To this end, a round robin experiment was organized among ten different international institutions. The goal is to provide a consistent framework for the analysis of irradiated stainless steels using APT. Through the development of more reliable and reproducible data analysis and through communication, this project also aims to advance the understanding between irradiated microstructure and materials performance by providing more complete quantitative microstructural input for modeling. The results, methods, and findings of this round robin will also apply to other clustering phenomena studied using APT, beyond the theme of radiation damage.
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| 9. |
- Neupane, Madhab, et al.
(författare)
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Observation of topological nodal fermion semimetal phase in ZrSiS
- 2016
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Ingår i: PHYSICAL REVIEW B. - 2469-9950. ; 93:20
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Tidskriftsartikel (refereegranskat)abstract
- Unveiling new topological phases of matter is one of the current objectives in condensed matter physics. Recent experimental discoveries of Dirac and Weyl semimetals prompt the search for other exotic phases of matter. Here we present a systematic angle-resolved photoemission spectroscopy study of ZrSiS, a prime topological nodal semimetal candidate. Our wider Brillouin zone (BZ) mapping shows multiple Fermi surface pockets such as the diamond-shaped Fermi surface, elliptical-shaped Fermi surface, and a small electron pocket encircling at the zone center (Gamma) point, the M point, and the X point of the BZ, respectively. We experimentally establish the spinless nodal fermion semimetal phase in ZrSiS, which is supported by our first-principles calculations. Our findings evidence that the ZrSiS-type of material family is a new platform on which to explore exotic states of quantum matter; these materials are expected to provide an avenue for engineering two-dimensional topological insulator systems.
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