| 1. |
- Chen, Zhishan, et al.
(författare)
-
Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
- 2024
-
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
|
|
| 2. |
- Zhang, Yuan, et al.
(författare)
-
Healthy lifestyle counteracts the risk effect of genetic factors on incident gout : a large population-based longitudinal study
- 2022
-
Ingår i: BMC Medicine. - : Springer Science and Business Media LLC. - 1741-7015. ; 20:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Risk genes linked to the development of gout have been identified, and lifestyle factors are related to gout risk. It remains unclear whether healthy lifestyle factors can mitigate the genetic risk of gout. Therefore, we aimed to explore whether and to what extent a healthy lifestyle can mitigate the risk of gout related to genetic factors.Methods: Within the UK Biobank, 416,481 gout-free participants (aged 37–74) were identified at baseline. Polygenic risk for gout was assessed and categorized as low (lowest tertile), middle (tertile 2), and high (highest tertile). Healthy lifestyle factors included no/moderate alcohol consumption, no smoking, physical activity, and a healthy diet. Participants were categorized into three groups according to their number of healthy lifestyle factors: unfavorable (0 or 1), intermediate (any 2), and favorable (3 or 4). Data were analyzed using Cox proportional hazard models.Results: Over the follow-up (median: 12.1 years), 6206 participants developed gout. Compared to low genetic risk, the hazard ratios (HRs) and 95% confidence intervals (CIs) of gout was 1.44 (1.35–1.54) for middle and 1.77 (1.66–1.89) for high genetic risk. The HRs (95% CIs) of gout were 0.63 (0.59–0.67) for a favorable lifestyle and 0.79 (0.75–0.85) for an intermediate lifestyle, compared to an unfavorable lifestyle. In joint effect analysis, compared to participants with low genetic predisposition and a favorable lifestyle, the HRs (95% CIs) of gout were 2.39 (2.12–2.70)/3.12 (2.79–3.52) in those with middle and high genetic predisposition plus unfavorable lifestyle profiles, and 1.53 (1.35–1.74)/1.98 (1.75–2.24) for those with middle and high genetic predisposition plus favorable lifestyle profiles, respectively. Moreover, compared to an unfavorable lifestyle, the HRs of gout related to a favorable lifestyle was 0.64 (95% CI, 0.56–0.73) for low genetic risk, 0.65 (95% CI, 0.58–0.72) for middle genetic risk, and 0.62 (95% CI, 0.57–0.69) for high genetic risk. There was a significant additive interaction between unfavorable lifestyle and high genetic risk on gout.Conclusions: Healthy lifestyle was associated with a lower risk of gout and may attenuate the risk of gout related to genetic factors by almost a third.
|
|
| 3. |
- Abolfathi, Bela, et al.
(författare)
-
The Fourteenth Data Release of the Sloan Digital Sky Survey : First Spectroscopic Data from the Extended Baryon Oscillation Spectroscopic Survey and from the Second Phase of the Apache Point Observatory Galactic Evolution Experiment
- 2018
-
Ingår i: Astrophysical Journal Supplement Series. - : IOP Publishing Ltd. - 0067-0049 .- 1538-4365. ; 235:2
-
Tidskriftsartikel (refereegranskat)abstract
- The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since 2014 July. This paper describes the second data release from this phase, and the 14th from SDSS overall (making this Data Release Fourteen or DR14). This release makes the data taken by SDSS-IV in its first two years of operation (2014-2016 July) public. Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey; the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data-driven machine-learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from the SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS web site (www.sdss.org) has been updated for this release and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020 and will be followed by SDSS-V.
|
|
| 4. |
- Blanton, Michael R., et al.
(författare)
-
Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
- 2017
-
Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
-
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.
|
|
| 5. |
- Brownstein, Catherine A., et al.
(författare)
-
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
-
Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
-
Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
|
|
| 6. |
- Huang, Xiaoli, et al.
(författare)
-
High-temperature superconductivity in sulfur hydride evidenced by alternating-current magnetic susceptibility
- 2019
-
Ingår i: National Science Review. - : Oxford University Press. - 2095-5138 .- 2053-714X. ; 6:4, s. 713-718
-
Tidskriftsartikel (refereegranskat)abstract
- The search for high-temperature superconductivity is one of the research frontiers in physics. In the sulfur hydride system, an extremely high Tc (∼200 K) has been recently developed at pressure. However, the Meissner effect measurement above megabar pressures is still a great challenge. Here, we report the superconductivity identification of sulfur hydride at pressure, employing an in situ alternating-current magnetic susceptibility technique. We determine the superconducting phase diagram, finding that superconductivity suddenly appears at 117 GPa and Tc reaches 183 K at 149 GPa before decreasing monotonically with increasing pressure. By means of theoretical calculations, we elucidate the variation of Tc in the low-pressure region in terms of the changing stoichiometry of sulfur hydride and the further decrease in Tc owing to a drop in the electron–phonon interaction parameter λ. This work provides a new insight into clarifying superconducting phenomena and anchoring the superconducting phase diagram in the hydrides.
|
|
| 7. |
- Li, Xinghao, et al.
(författare)
-
Porous organic polycarbene nanotrap for efficient and selective gold stripping from electronic waste
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14
-
Tidskriftsartikel (refereegranskat)abstract
- The role of N-heterocyclic carbene, a well-known reactive site, in chemical catalysis has long been studied. However, its unique binding and electron-donating properties have barely been explored in other research areas, such as metal capture. Herein, we report the design and preparation of a poly(ionic liquid)-derived porous organic polycarbene adsorbent with superior gold-capturing capability. With carbene sites in the porous network as the “nanotrap”, it exhibits an ultrahigh gold recovery capacity of 2.09 g/g. In-depth exploration of a complex metal ion environment in an electronic waste-extraction solution indicates that the polycarbene adsorbent possesses a significant gold recovery efficiency of 99.8%. X-ray photoelectron spectroscopy along with nuclear magnetic resonance spectroscopy reveals that the high performance of the polycarbene adsorbent results from the formation of robust metal-carbene bonds plus the ability to reduce nearby gold ions into nanoparticles. Density functional theory calculations indicate that energetically favourable multinuclear Au binding enhances adsorption as clusters. Life cycle assessment and cost analysis indicate that the synthesis of polycarbene adsorbents has potential for application in industrial-scale productions. These results reveal the potential to apply carbene chemistry to materials science and highlight porous organic polycarbene as a promising new material for precious metal recovery.
|
|
| 8. |
- Ma, Dan, et al.
(författare)
-
Creep-erosion coupling water inrush model of weakly cemented fault rock mass
- 2023
-
Ingår i: Meitan Xuebao/Journal of the China Coal Society. - : China Coal Society. - 0253-9993. ; 48:6, s. 2453-2464
-
Tidskriftsartikel (refereegranskat)abstract
- In order to investigate the temporal-spatial evolution properties of the water inrush disaster process of weakly cemented fault rock mass, a creep-erosion coupling water inrush model of weakly cemented fault rock mass is established. This model expands the equivalent continuum seepage theory, and a creep submodel and an erosion submodel are established respectively. The proposed creep submodel fully considers the mass conversion among materials, stress-strain and strain-porosity relationships. The proposed erosion submodel fully considers the mass conservation, particle migration and non-Darcy flow laws. According to the superposition principle of the mass conservation equations and three influence relationships (i.e., porosity-effective stress, porosity-creep material coefficient and creep strain-porosity-permeability relationships), the coupling between the submodels is realized, and the governing equations of the one-dimensional radial seepage direction coupling model are given. The solution conditions of the water inrush model are set, and the numerical computation method of the model in the temporal-spatial domain is established based on the COMSOL Multiphysics. By comparing the laboratory experimental results and the model calculation results of porosity evolution, the validity of the creep-erosion coupling model of weakly cemented surrounding rock is verified. On this basis, the temporal-spatial evolution law of the creep-erosion characteristics of weakly cemented surrounding rocks of the roadway is solved and analyzed. The calculated results show that in terms of the creep characteristics evolution, the effective stress decreases and the creep strain increases with time, and the samples exhibit the accelerated creep characteristics. The inhomogeneity of the spatial distribution of effective stress and creep strain increases with the creep-erosion coupling process. As for the evolution of the erosion characteristics, in the initial stage of the creep-erosion coupling process, the fine rock particles migrate out continuously under the effect of water flow, the volume fraction of fluidized particles, the permeability and flow velocity continuously increase, and new water-conducting channels are constantly formed in the weakly cemented rock mass. Subsequently, the erosion effect is weakened and finally stagnates due to the increasing creep effect. The closer to the inner wall of the roadway, the stronger the erosion effect. The spatial distribution of porosity and permeability after the stagnation of erosion shows obvious inhomogeneous characteristics, and the spatial distribution of water pressure presents a nonlinear-linear-nonlinear trend in the creep-erosion coupling process.
|
|
| 9. |
- Wan, Hongyu, et al.
(författare)
-
Trace analysis using Wi-Fi probe positioning and virtual reality for commercial building complex design
- 2023
-
Ingår i: Automation in Construction. - : Elsevier BV. - 0926-5805 .- 1872-7891. ; 153
-
Tidskriftsartikel (refereegranskat)abstract
- The effective management of human flow is critical to the success of complex projects in urban centers, such as shopping malls. However, conventional methods of flow organization, which rely on observation and empirical knowledge, face challenges in fully comprehending the intricate environment. This study proposes an analytical approach to manage human flow in shopping malls in urban centers. A Wi-Fi probe positioning system recorded real-time human flow to assess current movement patterns, while virtual reality (VR) identified issues and optimized the space layout. The Maoye shopping mall in Nanjing experienced a decline in human flow, prompting the need for a new design. The study demonstrates that the Wi-Fi probe positioning system supports the setting of entrances and main corridors during the design phase, while VR tracing evaluates space layout and aids optimization. The study contributes to data-informed design by integrating analytical approaches into the conventional design process.
|
|
| 10. |
- Zhen, Hongyu, et al.
(författare)
-
Inverted indium-tin-oxide-free cone-shaped polymer solar cells for light trapping
- 2012
-
Ingår i: Applied Physics Letters. - : American Institute of Physics (AIP). - 0003-6951 .- 1077-3118. ; 100:21, s. 213901-
-
Tidskriftsartikel (refereegranskat)abstract
- Based on the flexibility of polymer film, cone-shaped polymer solar cells (PSCs) are fabricated and studied. Effective light trapping is achieved due to multi-absorption in all 360 degrees directions. Monte Carlo ray tracing is used to simulate the absorption of cone-shaped PSCs with two variables: wavelength and half cone angle. With an inverted indium-tin-oxide-free device structure, a 43% enhanced light utilization without loss of material utilization is realized in the cone-shaped PSCs with a half cone angle of 45 degrees, compared with the planar PSCs.
|
|
