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NCAD v1.0: a database for non-coding variant annotation and interpretation

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Journal of Genetics and Genomics 2024年第2期51卷 230-242页

作者： Xiaoshu Feng Sihan liu ke li Fengxiao Bu Huijun Yuan Institute of Rare Diseases West China HospitalSichuan UniversityChengduSichuan 610044China

The application of whole genome sequencing is expanding in clinical diagnostics across various genetic disorders, and the significance of non-coding variants in penetrant diseases is increasingly being demonstrated. Therefore, it is urgent to improve the diagnostic yield by exploring the pathogenic mechanisms of variants in non-coding regions. However, the interpretation of non-coding variants remains a significant challenge, due to the complex functional regulatory mechanisms of non-coding regions and the current limitations of available databases and tools. Hence, we develop the non-coding variant annotation database (NCAD, http://***/), encompassing comprehensive insights into 665,679,194 variants, regulatory elements, and element interaction details. Integrating data from 96 sources, spanning both GRCh37 and GRCh38 versions, NCAD v1.0 provides vital information to support the genetic diagnosis of non-coding variants, including allele frequencies of 12 diverse populations, with a particular focus on the population frequency information for 230,235,698 variants in 20,964 Chinese individuals. Moreover, it offers prediction scores for variant functionality, five categories of regulatory elements, and four types of non-coding RNAs. With its rich data and comprehensive coverage, NCAD serves as a valuable platform, empowering researchers and clinicians with profound insights into non-coding regulatory mechanisms while facilitating the interpretation of non-coding variants.

关键词： Non-coding variants Annotation Variant interpretation Database

GSW3.1,a novel gene controlling grain size and weight in rice

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The Crop Journal 2024年第3期12卷 796-802页

作者： Yifei jiang Mingao Zhou Simin ke Xiaoxiao Deng Yangsheng li State key Laboratory of Hybrid Rice Key Laboratory for Research and Utilization of Heterosis in Indica RiceMinistry of AgricultureCollege of Life SciencesWuhan UniversityWuhan 430072HubeiChina

Grain size and weight are closely related traits determining yield in rice(Oryza sativa L.).Since indica and japonica rice varieties differ significantly in multiple traits,a high-generation recombinant inbred line(RIL)population derived from the crossing LH9(indica)and RPY(japonica)was used to map grainrelated traits in six *** of the quantitative trait loci(QTL)for thousand-grain weight showed that combinations of multiple QTL significantly increased the phenotypic effect.A novel gene named GSW3.1 controlling grain size and weight was discovered using the major QTL for the colocalization of grain width and thousand-grain weight on chromosome *** editing revealed that GSW3.1(LOC_Os03g16850)was pleiotropic,positively regulating grain size and weight while affecting several other agronomic *** analysis indicated that some traits,including grain width and weight,were highly correlated with indica-japonica differentiation.

关键词： Rice Grain size and weight 3.1(GSW3.1) Quantitative trait locus Haplotype analysis

Research on ECMS Based on Segmented Path Braking Energy Recovery in a Fuel Cell Vehicle

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Energy Engineering 2024年第1期121卷 95-110页

作者： Wen Sun Meijing li Guoxiang li ke Sun Shuzhan Bai School of Energy and Power Engineering Shandong UniversityJinan250061China Automotive Research Institute China National Heavy Duty Truck Group Co.Ltd.Jinan250061China

Proton exchange membrane fuel cells are widely regarded as having the potential to replace internal combustion engines in *** fuel cells cannot recover energy and have a slow dynamic response,they need to be used with different power *** efficient energy management strategies to achieve excellent fuel economy is the goal of *** paper proposes an adaptive equivalent fuel minimum consumption strategy(AECMS)to solve the problem of the poor economy of the whole vehicle caused by the wrong selection of equivalent factors(EF)in traditional *** this method,the kinematics interval is used to update the equivalent factor by considering the penalty term of energy recovery on SOC ***,the optimized equivalent factor is substituted into the optimization objective function to achieve efficient energy *** results under the New European Driving Cycle show that compared with the traditional ECMS based on fixed SOC benchmarks,the proposed method improves fuel economy by 1.7%while ensuring vehicle power and increases SOC by 30%.

关键词： Fuel cell PEMFC electric vehicle equivalent consumption minimization strategy

Bunching enhancement for coherent harmonic generation by using phase merging effects

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Matter and Radiation at Extremes 2024年第5期9卷 10-21页

作者： ke Feng Kangnan jiang Runshu Hu Shixia Luan Wentao Wang Ruxin li State key Laboratory of High Field Laser Physics and CAS Center for Excellence in Ultra-intense Laser Science Shanghai Institute of Optics and Fine Mechanics(SIOM)Chinese Academy of Sciences(CAS)ShanghaiPeople’s Republic of China School of Physical Science and Technology ShanghaiTech UniversityShanghaiPeople’s Republic of China Center of Materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijingPeople’s Republic of China

In this paper,promising but simple schemes are investigated to enhance the micro-bunching of relativistic electron beams for coherent harmonic generation(CHG)by using phase merging *** contrast to the standard CHG scheme,two specially designed dispersion sections(DSs)are adopted with the DS-modulator–DS *** phase space of the e beam is appropriately coupled in the first DS,and the electrons within one seed wavelength can merge to the same phase with a matched second ***-bunching of the e beam can thus be enhanced by a large margin with much higher-harmonic *** e beams from laser wakefield accelerators(LWFAs)as an example,start-to-end simulations are performed to show the effectiveness and robustness of the proposed schemes with several *** beam current can be optimized to several tens to hundreds of kiloamperes,and the radiation power reaches hundreds of megawatts in the extreme ultraviolet regime within a 3.5 m-long *** proposed schemes offer new opportunities for future compact free-electron lasers driven by LWFAs and provides prospects for truly compact and widely applicable systems.

关键词： modulator harmonic phase

Projecting Wintertime Newly Formed Arctic Sea Ice through Weighting CMIP6 Model Performance and Independence

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Advances in Atmospheric Sciences 2024年第8期41卷 1465-1482页

作者： jiazhen ZHAO Shengping HE ke FAN Huijun WANG Fei li key Laboratory of Meteorological Disaster Ministry of Education/Joint International Research Laboratory of Climate and Environment Change(ILCEC)/Collaborative Innovation Center on Forecast and Evaluation of Meteorological Disasters(CIC-FEMD)Nanjing University of Information Science&TechnologyNanjing 210044China Geophysical Institute University of Bergen and Bjerknes Centre for Climate ResearchBergen 5007Norway School of Atmospheric Science Sun Yat-sen Universityand Southern Marine Science and Engineering Guangdong Laboratory(Zhuhai)Zhuhai 519082China Nansen Environmental and Remote Sensing Center and Bjerknes Centre for Climate Research Bergen 5007Norway Nansen-Zhu International Research Center Institute of Atmospheric PhysicsChinese Academy of SciencesBeijing 100029China Southern Marine Science and Engineering Guangdong Laboratory(Zhuhai) Zhuhai 519082China

Precipitous Arctic sea-ice decline and the corresponding increase in Arctic open-water areas in summer months give more space for sea-ice growth in the subsequent cold seasons. Compared to the decline of the entire Arctic multiyear sea ice,changes in newly formed sea ice indicate more thermodynamic and dynamic information on Arctic atmosphere–ocean–ice interaction and northern mid–high latitude atmospheric teleconnections. Here, we use a large multimodel ensemble from phase 6 of the Coupled Model Intercomparison Project(CMIP6) to investigate future changes in wintertime newly formed Arctic sea ice. The commonly used model-democracy approach that gives equal weight to each model essentially assumes that all models are independent and equally plausible, which contradicts with the fact that there are large interdependencies in the ensemble and discrepancies in models' performances in reproducing observations. Therefore, instead of using the arithmetic mean of well-performing models or all available models for projections like in previous studies, we employ a newly developed model weighting scheme that weights all models in the ensemble with consideration of their performance and independence to provide more reliable projections. Model democracy leads to evident bias and large intermodel spread in CMIP6 projections of newly formed Arctic sea ice. However, we show that both the bias and the intermodel spread can be effectively reduced by the weighting scheme. Projections from the weighted models indicate that wintertime newly formed Arctic sea ice is likely to increase dramatically until the middle of this century regardless of the emissions ***, it may decrease(or remain stable) if the Arctic warming crosses a threshold(or is extensively constrained).

关键词： wintertime newly formed Arctic sea ice model democracy model weighting scheme model performance model independence

A Hybrid Signal Processing Method Combining Mathematical Morphology and Walsh Theory for Power Quality Disturbance Detection and Classification

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CSEE Journal of Power and Energy Systems 2024年第2期10卷 584-592页

作者： Zhi Ding Tianyao ji Mengshi li Q.H.Wu School of Electric Power Engineering South China University of Technology(SCUT)Guangzhou 510641China

In this paper, a novel signal processing method combining mathematical morphology (MM) and Walsh theory is proposed, which uses Walsh functions to control the structuring element (SE) and MM operators. Based on the Walsh-MM method, a scheme for power quality disturbances detection and classification is developed, which involves three steps: denoising, feature extraction and morphological clustering. First, various evolution rules of Walsh function are used to generate groups of SEs for the multiscale Walsh-ordered morphological operation, so the original signal can be denoised. Next, the fundamental wave of the denoised signal is suppressed by Hadamard matrix;thus, disturbances can be extracted. Finally, the Walsh power spectrum of the waveform extracted in the previous step is calculated, and the parameters of which are taken by morphological clustering to classify the disturbances. Simulation results reveal the proposed scheme can effectively detect and classify disturbances, and the Walsh-MM method is less affected by noise and only involves simple calculation, which has a potential to be implemented in hardware and more suitable for real-time application.

关键词： Hadamard matrix mathematical morphology morphological clustering power quality disturbance Walsh theory

Sustainable management of campus fallen leaves through low-temperature pyrolysis and application in Pb immobilization

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Journal of Environmental Sciences 2024年第5期139卷 281-292页

作者： Rongli Tan ke li Yue Sun Xiaoliang Fan Zhengtao Shen lingyi Tang School of Environment Nanjing UniversityNanjing 210023China School of Chemistry and Chemical Engineering Nanjing UniversityNanjing 210023China School of Earth and Engineering Sciences Nanjing UniversityNanjing 210023China Department of Earth and Atmospheric Sciences University of AlbertaEdmonton T6G 2E3Canada

Realizing campus sustainability requires the environmental-friendly and economical treatment of tremendous fallen *** fallen leaf biochar at a low temperature is a candidate *** this study,six common types of fallen leaves on the campus were pyrolyzed at 300℃.The obtained biochars were characterized and the adsorption mechanisms of lead(Pb)by the fallen leaf biochars were *** adsorption capacity of leaf biochar for Pb was relatively high,up to 209 mg/g(Yulania denudata leaf biochar).Adsorption of Pb onto active sites was the rate-limiting step for most leaf *** for Platanus leaf biochar,intraparticle diffusion of Pb^(2+)dominated owing to the lowest adsorption ***,the highest exchangeable Pb fraction(27%)indicated its potential for removing aqueous Pb^(2+).Ginkgo and Prunus cerasifera leaf biochar immobilized Pb by surface complexation and precipitation as lead ***,they were suitable for soil heavy metal *** study shed the light on the sustainable utilization of campus fallen leaves and the application of fallen leaf biochars in heavy metal remediation.

关键词： Fallen leaves Waste management Biochar Lead removal Sorption Circular campus

A study on carbon emission calculation in operation stage of residential buildings based on micro electricity usage behavior:Three case studies in China

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Building Simulation 2024年第1期17卷 147-164页

作者： Menghan Niu Ying ji Miao Zhao jiefan Gu Aonan li Beijing key Laboratory of Green Built Environment and Energy Efficient Technology Beijing University of TechnologyBeijing 100124China College of Architecture and Urban Planning Tongji UniversityShanghai 201804China The Bartlett School of Architecture University College LondonWC1E 6BTUK

Along with the improvement of social productivity and living standard,residential buildings generate a growing portion of carbon emissions,especially during the operation ***,energy use behaviors are usually ignored in carbon emission *** study focuses on calculating carbon emissions during the operation stage for residential buildings based on the characteristics of energy use behaviors in different ***,we investigated energy use behaviors in dwellings across three cities in China:Xi'an,Shanghai and ***,we established calibrated carbon emission models and optimization models with different green building measures for residential *** results of this research reveal a significant disparity between the energy usage habits of residents in different climate *** carbon emissions of residential electricity bills in Xi'an,Shanghai and Fuzhou are 13.6 kgCO_(2)/(m^(2)·a)(excluding central heating),29.3 kgCO_(2)/(m^(2)·a)and 17.2 kgCO_(2)/(m^(2)·a),*** carbon emissions account for 32.2%-64.1% of the *** comparison to the model based on internal standard setting,the accuracy of the models using actual internal has improved by 25.9%-37.4%.The three-star green building methods have the highest carbon reduction rate among different star buildings,the emission reduction rates are around 30%.This study's findings are useful for carbon emission calculation and green building design of residential buildings in the future.

关键词： residential building energy usage behavior energy simulation carbon emissions

Microstructure and Internal Friction Behavior of Laser 3D Printed Fe-Based Amorphous Composites

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Acta Metallurgica Sinica(English Letters) 2024年第1期37卷 196-204页

作者： Shuilong Huang Qingjun Chen li ji Kan Wang Guosheng Huang School of Material Science and Engineering Nanchang Hangkong UniversityNanchang330063China State key Laboratory for Marine Corrosion and Protection Luoyang Ship Material Research Institute(LSMRI)Qingdao266237China

Laser 3D printing,also known as laser additive manufacturing(LAM),is favored for its ability to form bulk metallic glass(BMG)and its composite materials(BMGcs)with freeform *** this work,two different kinds of Fe_(41)Co_(7)Cr_(15)Mo_(14)C_(15)B_(6)Y_(2)amorphous coatings(A and B)were prepared by using LAM technology under air-and water-cooled conditions,respectively;meanwhile,to reduce the cracks generated due to the residual thermal stresses,coating C obtained by air-sweep annealing of B with a low energy-density *** morphology and amorphous content and microstructure of the coatings were investigated,the results show many cracks in coating B deposited under water-cooled conditions,and its microstructure shows an amorphous-crystal-nanocrystalline mixed *** was suppressed in coating C,obtained by air-sweep annealing based on coating B,but the amorphous content was reduced from 32.6 to 13.4%.And the hardness and corrosion resistance of the coating will increase with the increase in the amorphous ***,the internal friction behavior of a BMGcs was prepared on the basis of the process of sample C is compared with that of as-cast amorphous *** results show that the low temperature internal friction behavior of BMGcs is affected by the defects produced during printing,and the high temperature internal friction behavior is affected by the precipitated hard phase.

关键词： Laser 3D printing Amorphous coating Microstructure Corrosion resistance Internal friction behavior