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基因组结构变异研究的前瞻性及临床应用

Science Bulletin 2024年第6期69卷 705-708页

作者：陈仲中 richard H.Finnell 雷云平王红艳 Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Shanghai Children’s Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200062China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHouston 77030USA Departments of Molecular and Human Genetics and Medicine Baylor College of MedicineOne Baylor PlazaHouston 77030USA Shanghai Key Laboratory of Metabolic Remodelling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Children’s Hospital of Fudan University Shanghai 201102China

The challenges and breakthroughs in human genetics can largely depend on the depth of exploring the missing heritability[1]and understanding of genetic variants,which enabled scientists to better elucidate the underlying causes of diseases and apply this knowledge in clinical *** genomes differ from one individual to another in the form of single nucleotide variants(SNVs),small insertions and deletions(indels)(<50 base pairs(bp)),and structural variants(SVs)[2].

关键词： diseases breakthrough insertion

Full Dynamic Model for Liquid Sloshing Simulation in Cylindrical Tank Shape

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World Journal of Mechanics 2024年第4期14卷 55-72页

作者： Omar Noui Mohamed Bouazara Marc J. richard Department of Applied Science University of Quebec at Chicoutimi Chicoutimi Canada Department of Mechanical Engineering Laval University Quebec Canada

This study presents a comprehensive full dynamic model designed for simulating liquid sloshing behavior within cylindrical tank structures. The model employs a discretization approach, representing the liquid as a network of interconnected spring-damper-mass systems. Key aspects include the adaptation of liquid discretization techniques to cylindrical lateral cross-sections and the calculation of stiffness and damping coefficients. External forces, simulating various vehicle maneuvers, are also integrated into the model. The resulting system of equations is solved using Maple Software with the Runge-Kutta-Fehlberg method. This model enables accurate prediction of liquid displacement and pressure forces, offering valuable insights for tank design and fluid dynamics applications. Ongoing refinement aims to broaden its applicability across different liquid types and tank geometries.

关键词： Fluid-Structure Interaction Equivalent Mechanical Model Liquid Discretization Spring-Mass Model Spring-Mass Network Liquid Simulation

Research surveys and their evolution:Past,current and future uses in healthcare

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World Journal of Methodology 2024年第4期14卷 91-95页

作者： Michael Colwill richard Pollok Andrew Poullis Department of Gastroenterology St George's University Hospital NHS Foundation TrustLondon SW170QTUnited Kingdom

Research surveys are believed to have originated in antiquity with evidence of them being performed in ancient Egypt and *** the past century,their use has grown significantly and they are now one of the most frequently employed research methods including in the field of *** validation techniques and processes have allowed researchers to broaden the scope of qualitative data they can gather through these surveys such as an individual’s views on service quality to nationwide surveys that are undertaken regularly to follow healthcare *** article focuses on the evolution and current utility of research surveys,different methodologies employed in their creation,the advantages and disadvantages of different forms and their future use in healthcare *** also review the role artificial intelligence and the importance of increased patient participation in the development of these surveys in order to obtain more accurate and clinically relevant data.

关键词： Research surveys Methodology Sampling Artificial intelligence

Innuendoes of Sterilisation Drilling in Surface Mining Operations—A Case Study

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International Journal of Geosciences 2024年第5期15卷 458-477页

作者： richard Gyebuni Festus Kunkyin-Saadaari Isaac Ekow Anaman Department of Mining Engineering University of Mine and Technology Tarkwa Ghana Mining Engineering Department Ghana Manganese Company Tarkwa Ghana

Surface mining operations play a crucial role in meeting the world’s increasing demand for mineral resources for the advancement of technology and debauched expansion of economies. The search for and exploitation of these mineral resources are therefore important for the sustainability of the mineral extraction industry. To this end, efficient mine planning must incorporate sterilisation drilling and effective waste rock management principles in the search and exploitation of these minerals. In this article, sterilisation drilling is being reviewed vis-a-vis the establishment of waste and tailings dump locations, backfilling of open pit excavations and mine closure giving critical attention to the minerals and mining laws of Ghana. Subsequently, a detailed case study of a surface mining operation that successfully incorporated sterilisation drilling in determining waste dump location in its mine planning process has been presented in this study. The findings indicate that the proposed waste dump location could present a potential mining prospect in the future based on enhanced milling capacity/technology and improved mineral commodity price;underscoring the significance of sterilization drilling in the sustainability of the mining industry.

关键词： Sterilisation Exploration Backfilling Waste Dump Cutoff Grade

Biobanks and biomarkers:Their current and future role in biomedical research

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World Journal of Methodology 2024年第4期14卷 77-83页

作者： Michael Colwill Samantha Baillie richard Pollok Andrew Poullis Department of Gastroenterology St George's University Hospital NHS Foundation TrustLondon SW170QTUnited Kingdom

The importance and utility of biobanks has increased exponentially since their inception and *** used as part of translational research,they now contribute over 40%of data for all cancer research papers in the United States of America and play a crucial role in all aspects of *** classification systems exist but a simplified approach is to either classify as population-based or disease-oriented *** historically publicly funded institutions,there has been a significant increase in industry funded entities across the world which has changed the dynamic of biobanks offering new possibilities but also new *** face legal questions over data sharing and intellectual property as well as ethical and sustainability questions particularly as the world attempts to move to a low-carbon *** collaboration is required to address some of these challenges but this in itself is fraught with complexity and *** review will examine the current utility of biobanks in the modern healthcare setting as well as the current and future challenges these vital institutions face.

关键词： Biobanks Biomarkers Biomedical research Research methodology Research ethics

A Bayesian hierarchical model for the inference between metal grade with reduced variance:Case studies in porphyry Cu deposits

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Geoscience Frontiers 2024年第2期15卷 304-314页

作者： Yufu Niu Mark Lindsay Peter Coghill richard Scalzo Lequn Zhang CSIRO Mineral Resources Lucas HeightsNew South Wales 2234Australia Mineral Exploration Cooperative Research Centre Centre for Exploration TargetingSchool of Earth ScienceThe University of Western AustraliaPerthWA 6009Australia ARC centre for Data Analytics for Resources and Environments(DARE) Perth and SydneyAustralia CSIRO Mineral Resources Australian Resources Research CentreWA 6151Australia CSIRO Data61 ClaytonVIC 3168Australia

Ore sorting is a preconcentration technology and can dramatically reduce energy and water usage to improve the sustainability and profitability of a mining *** porphyry Cu deposits,Cu is the primary target,with ores usually containing secondary‘pay’metals such as Au,Mo and gangue elements such as Fe and *** to sensing technology limitations,secondary and deleterious materials vary in correlation type and strength with Cu but cannot be detected simultaneously via magnetic resonance(MR)ore *** the relationships between Cu and other elemental abundances is particularly critical for mineral *** variations in metal grade relationships occur due to the transition into different geological *** raises two questions-how to define these geological domains and how the metal grade relationship is influenced by these geological *** this paper,linear relationship is assumed between Cu grade and other metal *** applies a Bayesian hierarchical(partial-pooling)model to quantify the linear relationships between Cu,Au,and Fe grades from geochemical bore core *** hierarchical model was compared with two other models-‘complete-pooling’model and‘nopooling’*** blocks were split based on spatial domain to construct hierarchical *** bore core data records metal grades measured from laboratory assay with spatial coordinates of sample *** case studies from different porphyry Cu deposits were used to evaluate the performance of the hierarchical *** chain Monte Carlo(MCMC)was used to sample the posterior *** results show that the Bayesian hierarchical model dramatically reduced the posterior predictive variance for metal grades regression compared to the no-pooling *** addition,the posterior inference in the hierarchical model is insensitive to the choice of *** data is wellrepresented in the posterior which indicates a robust *** results show that the spatial dom

关键词： Bayesian hierarchical model Porphyry Cu deposit Ore sorting Metal grade Linear regression

Chemical Determination of Base Status Metals in Soil Sediments and Particulate Matter in Wellington Industrial Estate Location

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Open Journal of Applied Sciences 2024年第5期14卷 1338-1352页

作者： richard Tamba Simbo Jerry Yeke Paye Fayia Francis Nyuma Department of Chemistry School of Basic Sciences Njala University Freetown Sierra Leone Department of Science and Mathematics College of Arts and Sciences William V.S. Tubman University Harper Liberia Department of Fisheries and Science Thomas J.R Faulkner College of Science and Technology University of Liberia Monrovia Liberia

This research study explored the levels of base status metals in soil sediments and particulate matter in the wellington industrial estate location;the main objectives were to: 1) determine sodium and potassium, 2) determine calcium and magnesium, 3) determine available iron. The following hypotheses were put forward;H0a: there is no significant difference in the concentration levels between Ca and Mg in the study area, H1a: there is significant difference in the concentration levels between Ca and Mg in the study area, H0b: there is no significant difference in the concentration levels between Na and K in the study area, H1b: there is significant difference in the concentration levels between Na and K in the study area. Six locations were used to collect samples with the aid of scoop and gravel free auger (at varying depths of 0 - 5 cm and 5 - 10 cm) which are Wellington Industrial Estate Area 1 (WIEL 1), (WIEL 2), (WIEL 3), (WIEL 4), (WIEL 5), (WIEL 6);the samples were given laboratory treatment. Flame photometer, EDTA, and Spectrophotometer were used in the determinations of sodium and potassium, calcium and magnesium, and available iron respectively. The results indicated that levels of potassium were in medium range (moderately high);sodium levels were generally low when compared to Brook’s classification table. Levels of calcium were generally low and those of magnesium were moderate based on Brook’s table of classification. Levels of available iron which fall within the range of Quijano-Guerta (2003) were high;this implies such levels can lead to toxicity. In all locations, there was decrease in the levels of each metal in the samples with (5 - 10 cm) depth.

关键词： Deposition Environment Particulate Sediment Toxicity

Advancing Type II Diabetes Predictions with a Hybrid LSTM-XGBoost Approach

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Journal of Data Analysis and Information Processing 2024年第2期12卷 163-188页

作者： Ayoub Djama Waberi Ronald Waweru Mwangi richard Maina Rimiru Department of Mathematics Pan African University Institute for Basic Sciences Technology and Innovation (PAUSTI) Nairobi Kenya Department of Computing Jomo Kenyatta University of Agriculture and Technology Nairobi Kenya School of Computing and Information Technology (SCIT) Jomo Kenyatta University of Agriculture and Technology (JKUAT) Nairobi Kenya

In this paper, we explore the ability of a hybrid model integrating Long Short-Term Memory (LSTM) networks and eXtreme Gradient Boosting (XGBoost) to enhance the prediction accuracy of Type II Diabetes Mellitus, which is caused by a combination of genetic, behavioral, and environmental factors. Utilizing comprehensive datasets from the Women in Data Science (WiDS) Datathon for the years 2020 and 2021, which provide a wide range of patient information required for reliable prediction. The research employs a novel approach by combining LSTM’s ability to analyze sequential data with XGBoost’s strength in handling structured datasets. To prepare this data for analysis, the methodology includes preparing it and implementing the hybrid model. The LSTM model, which excels at processing sequential data, detects temporal patterns and trends in patient history, while XGBoost, known for its classification effectiveness, converts these patterns into predictive insights. Our results demonstrate that the LSTM-XGBoost model can operate effectively with a prediction accuracy achieving 0.99. This study not only shows the usefulness of the hybrid LSTM-XGBoost model in predicting diabetes but it also provides the path for future research. This progress in machine learning applications represents a significant step forward in healthcare, with the potential to alter the treatment of chronic diseases such as diabetes and lead to better patient outcomes.

关键词： LSTM XGBoost Hybrid Models Machine Learning. Deep Learning

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基于卷积神经网络预测南海海底地形

大地测量与地球动力学 2024年第3期44卷 287-292页

作者：王怀兵万晓云 richard Fiifi Annan 中国地质大学(北京)土地科学技术学院北京市100083

针对南海区域,使用3种重力信号(垂线偏差、重力异常、垂直重力梯度异常)训练卷积神经网络模型,并将预测结果与船测数据和国外模型结果进行对比分析。将3种重力信号分成4组数据:重力异常,重力异常与垂直重力梯度异常,重力异常与垂线偏差... 详细信息

针对南海区域,使用3种重力信号(垂线偏差、重力异常、垂直重力梯度异常)训练卷积神经网络模型,并将预测结果与船测数据和国外模型结果进行对比分析。将3种重力信号分成4组数据:重力异常,重力异常与垂直重力梯度异常,重力异常与垂线偏差,以及重力异常、垂线偏差和垂直重力梯度异常。4种组合方式的反演结果与船测水深之间的标准差分别为104.780 m、102.778 m、93.788 m、88.289 m,表明随着不同类型重力数据的加入,水深预测精度明显提高,并且在深度大于2000 m时,反演结果精度提升效果更为显著。将训练集占总数据集的比例分别设置为80%、70%、60%和50%,反演结果与船测水深之间的标准差分别为88.289 m、91.256 m、92.833 m、96.022 m,表明数据量的增多可以有效提高模型学习结果的精度。

关键词：卷积神经网络重力场信息深度学习海底地形频域法