| 1. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 2. |
- Fang, Jingzhong, et al.
(författare)
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A New Particle Swarm Optimization Algorithm for Outlier Detection : Industrial Data Clustering inWire Arc Additive Manufacturing
- 2023
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Ingår i: IEEE Transactions on Automation Science and Engineering. - 1545-5955 .- 1558-3783. ; 21:2, s. 1244-1257
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Tidskriftsartikel (refereegranskat)abstract
- In this paper, a novel outlier detection method is proposed for industrial data analysis based on the fuzzy C-means (FCM) algorithm. An adaptive switching randomly perturbed particle swarm optimization algorithm (ASRPPSO) is put forward to optimize the initial cluster centroids of the FCM algorithm. The superiority of the proposed ASRPPSO is demonstrated over five existing PSO algorithms on a series of benchmark functions. To illustrate its application potential, the proposed ASRPPSO-based FCM algorithm is exploited in the outlier detection problem for analyzing the real-world industrial data collected from a wire arc additive manufacturing pilot line in Sweden. Experimental results demonstrate that the proposed ASRPPSO-based FCM algorithm out performs the standard FCM algorithm in detecting outliers of real-world industrial data.Note to PractitionersElectric arc (which is governed by the current and arc voltage) plays a significant role in monitoring the operating status of the wire arc additive manufacturing (WAAM) process. The nominal periodic current and voltage may occasionally change abruptly due to anomalies (such asarc instability, unstable metal transfer, geometrical deviations, and surface contaminations), which would affect the quality of the fabricated component. This paper focuses on detecting possible anomalies by analyzing the current and voltage during the WAAM process. A novel clustering-based outlier detection method is proposed for anomaly detection where abnormal and normal instances are categorized into two separate clusters. A new particle swarm optimization algorithm is put forward to optimize the initial cluster centroid so as to improve the detection accuracy. The proposed outlier detection method is applied to real-world data collected from a WAAM pilot line for detecting abnormal instances. Experimental results demonstrate the effectiveness of the proposed outlier detection method. The proposed outlier detection method can be applied to other industrial applications including electrical engineering, mechanical engineering and medical engineering. In the future, we aim to develop an online outlier detection system based on the proposed method for real-time for anomaly detection and defect prediction.
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| 3. |
- Lindblad-Toh, Kerstin, et al.
(författare)
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Genome sequence, comparative analysis and haplotype structure of the domestic dog.
- 2005
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 438:7069, s. 803-19
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Tidskriftsartikel (refereegranskat)abstract
- Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.
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| 4. |
- Meng, Yuan, et al.
(författare)
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Fate and risk assessment of emerging contaminants in reclaimed water production processes
- 2021
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Ingår i: Frontiers of Environmental Science and Engineering. - : Springer. - 2095-2201 .- 2095-221X. ; 15:5
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Tidskriftsartikel (refereegranskat)abstract
- Reclaimed water has been widely applied in irrigation and industrial production. Revealing the behavior of emerging contaminants in the production process of reclaimed water is the first prerequisite for developing relevant water quality standards. This study investigated 43 emerging contaminants, including 22 pharmaceuticals and personal care products (PPCPs), 11 organophosphorus flame retardants (OPFRs), and 10 antibiotic resistance genes (ARGs) in 3 reclaimed wastewater treatment plants (RWTPs) in Beijing. The composition profiles and removal efficiencies of these contaminants in RWTPs were determined. The results indicated that the distribution characteristics of the different types of contaminants in the three RWTPs were similar. Caffeine, sul2 and tris(1-chloro-2-propyl) phosphate were the dominant substances in the wastewater, and their highest concentrations were 27104 ng/L, 1.4 x 10(7) copies/mL and 262 ng/L, respectively. Ofloxacin and sul2 were observed to be the dominant substances in the sludge, and their highest concentrations were 5419 ng/g and 3.7 x 10(8) copies/g, respectively. Anaerobic/anoxic/oxic system combined with the membrane bioreactor process achieved a relatively high aqueous removal of PPCPs (87%). ARGs and OPFRs were challenging to remove, with average removal rates of 6.5% and 31%, respectively. Quantitative meta-analysis indicated that tertiary treatment processes performed better in emerging contaminant removal than secondary processes. Diethyltoluamide exhibited the highest mass load discharge, with 33.5 mg/d per 1000 inhabitants. Octocrylene and tris(2-ethylhexyl) phosphate posed high risks (risk quotient>1.0) to aquatic organisms. This study provides essential evidence to screen high priority pollutants and develop corresponding standard in RWTPs.
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| 5. |
- Postmus, Iris, et al.
(författare)
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Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
- 2014
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Statins effectively lower LDL cholesterol levels in large studies and the observed interindividual response variability may be partially explained by genetic variation. Here we perform a pharmacogenetic meta-analysis of genome-wide association studies (GWAS) in studies addressing the LDL cholesterol response to statins, including up to 18,596 statin-treated subjects. We validate the most promising signals in a further 22,318 statin recipients and identify two loci, SORT1/CELSR2/PSRC1 and SLCO1B1, not previously identified in GWAS. Moreover, we confirm the previously described associations with APOE and LPA. Our findings advance the understanding of the pharmacogenetic architecture of statin response.
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| 6. |
- Xu, Kangjun, et al.
(författare)
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Association between serum vitamin B12 and risk of all-cause mortality in elderly adults : a prospective cohort study
- 2021
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Ingår i: BMC Geriatrics. - : BioMed Central. - 1471-2318. ; 21:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND PURPOSE: Results from previous studies that linking vitamin B12 to risk of chronic diseases or mortality are inconsistent. We hereby explore the association between serum concentration of vitamin B12 and all-cause mortality risk in elderly adults.METHODS: Participants aged over 65 years in the Chinese Longitudinal Healthy Longevity Survey were included in present prospective cohort study. Serum vitamin B12 was assessed at the 2011-2012 and 2014 wave, respectively. Participants were divided into three groups based on two cut-off points - 10th and 90th percentiles of vitamin B12 concentrations - in the whole population. Cox regression model was used to calculate the hazard ratio (HR) and 95 % confidence intervals (95 % CIs), and restricted cubic spline function was further modelled to investigate their dose-response associations.RESULTS: Among 2,086 participants [mean ± SD: 87.74 ± 11.24 years, 908 (43.53 %) males], 943 (45.21 %) died during an average follow-up of 3.34 (SD: 1.63) years. Comparing with participants with middle concentration of serum vitamin B12, participants with high concentration had an increased risk of all-cause mortality [HR (95 %CIs): 1.30 (1.03-1.64)], whereas participants with low concentration had an insignificantly decreased risk of all-cause mortality (0.96, 0.76-1.20). The positive association between high concentration of serum vitamin B12 and all-cause mortality was also observed among the male and in a series of sensitivity analyses. In the dose-response analysis, a J-shape pattern was observed, but the non-linear association was only significant in males (Pnon-linearity = 0.0351).CONCLUSIONS: High concentration of serum vitamin B12 was associated with an increased risk of all-cause mortality in a J-shaped pattern. The precise mechanisms underlying the association remain to be explored.
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| 7. |
- Blanton, Michael R., et al.
(författare)
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Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
- 2017
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Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
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Tidskriftsartikel (refereegranskat)abstract
- We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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| 8. |
- Cai, Liangliang, et al.
(författare)
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Direct Formation of C-C Double-Bonded Structural Motifs by On-Surface Dehalogenative Homocoupling of gem-Dibromomethyl Molecules
- 2018
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Ingår i: ACS Nano. - : AMER CHEMICAL SOC. - 1936-0851 .- 1936-086X. ; 12:8, s. 7959-7966
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Tidskriftsartikel (refereegranskat)abstract
- Conductive polymers are of great importance in a variety of chemistry-related disciplines and applications. The recently developed bottom-up on-surface synthesis strategy provides us with opportunities for the fabrication of various nanostructures in a flexible and facile manner, which could be investigated by high-resolution microscopic techniques in real space. Herein, we designed and synthesized molecular precursors functionalized with benzal gem-dibromomethyl groups. A combination of scanning tunneling microscopy, noncontact atomic force microscopy, high-resolution synchrotron radiation photoemission spectroscopy, and density functional theory calculations demonstrated that it is feasible to achieve the direct formation of C-C double-bonded structural motifs via on-surface dehalogenative homocoupling reactions on the Au(111) surface. Correspondingly, we convert the sp(3)-hybridized state to an sp(2)-hybridized state of carbon atoms, i.e., from an alkyl group to an alkenyl one. Moreover, by such a bottom-up strategy, we have successfully fabricated poly(phenylenevinylene) chains on the surface, which is anticipated to inspire further studies toward understanding the nature of conductive polymers at the atomic scale.
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| 9. |
- Chen, Jian, et al.
(författare)
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Zika virus infects renal proximal tubular epithelial cells with prolonged persistency and cytopathic effects
- 2017
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Ingår i: Emerging Microbes & Infections. - : NATURE PUBLISHING GROUP. - 2222-1751. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Zika virus (ZIKV) infection can cause fetal developmental abnormalities and Guillain-Barre syndrome in adults. Although progress has been made in understanding the link between ZIKV infection and microcephaly, the pathology of ZIKV, particularly the viral reservoirs in human, remains poorly understood. Several studies have shown that compared to serum samples, patients' urine samples often have a longer duration of ZIKV persistency and higher viral load. This finding suggests that an independent viral reservoir may exist in the human urinary system. Despite the clinical observations, the host cells of ZIKV in the human urinary system are poorly characterized. In this study, we demonstrate that ZIKV can infect renal proximal tubular epithelial cells (RPTEpiCs) in immunodeficient mice in vivo and in both immortalized and primary human renal proximal tubular epithelial cells (hRPTEpiCs) in vitro. Importantly, ZIKV infection in mouse kidneys caused caspase-3-mediated apoptosis of renal cells. Similarly, in vitro infection of immortalized and primary hRPTEpiCs resulted in notable cytopathic effects. Consistent with the clinical observations, we found that ZIKV infection can persist with prolonged duration in hRPTEpiCs. RNA-Seq analyses of infected hRPTEpiCs revealed a large number of transcriptional changes in response to ZIKV infection, including type I interferon signaling genes and anti-viral response genes. Our results suggest that hRPTEpiCs are a potential reservoir of ZIKV in the human urinary system, providing a possible explanation for the prolonged persistency of ZIKV in patients' urine.
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| 10. |
- Haridas, Anupriya K., et al.
(författare)
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Boosting High Energy Density Lithium-Ion Storage via the Rational Design of an FeS-Incorporated Sulfurized Polyacrylonitrile Fiber Hybrid Cathode
- 2019
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Ingår i: ACS Applied Materials & Interfaces. - : American Chemical Society (ACS). - 1944-8252 .- 1944-8244. ; 11:33, s. 29924-29933
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Tidskriftsartikel (refereegranskat)abstract
- In order to satisfy the escalating energy demands, it is inevitable to improve the energy density of current Li-ion batteries. As the development of high-capacity cathode materials is of paramount significance compared to anode materials, here we have designed for the first time a unique synergistic hybrid cathode material with enhanced specific capacity, incorporating cost-effective iron sulfide (FeS) nanoparticles in a sulfurized polyacrylonitrile (SPAN) nanofiber matrix through a rational in situ synthesis strategy. Previous reports on FeS cathodes are scarce and consist of an amorphous carbon matrix to accommodate the volume changes encountered during the cycling process. However, this inactive buffering matrix eventually increases the weight of the cell, reducing the overall energy density. By the rational design of this hybrid composite cathode, we ensure that the presence of covalently bonded sulfur in SPAN guarantees high sulfur utilization, while effectively buffering the volume changes in FeS. Meanwhile, FeS can compensate for the conductivity issues in the SPAN, thereby realizing a synergistically driven dual-active cathode material improving the overall energy density of the composite. Simultaneous in situ generation of FeS nanoparticles within the SPAN fiber matrix was carried out via electrospinning followed by a one-step heating procedure. The developed hybrid cathode material displays enhanced lithium-ion storage, retaining 688.6 mA h g(FeS@SPAN composite)-1 at the end of 500 cycles at 1 A g-1 even within a narrow voltage range of 1-3.0 V. A high discharge energy density > 900 W h kg(FeS@SPAN composite)-1, much higher than the theoretical energy density of the commercial LiCoO2 cathode, was also achieved, revealing the promising prospects of this hybrid cathode material for high energy density applications.
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