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arXiv 2020年

作者： Ichinose, Genki Miyagawa, Daiki Ito, Junji Masuda, Naoki Department of Mathematical and Systems Engineering Shizuoka University 3-5-1 Johoku Naka-ku Hamamatsu432-8561 Japan Skating Club Yamanashi Gakuin University 2-4-5 Sakaori Kofu Yamanashi400-8575 Japan Department of Mathematics University at Buffalo State University of New York BuffaloNY14260-2900 United States Computational and Data-Enabled Science and Engineering Program University at Buffalo State University of New York BuffaloNY14260-5030 United States

In some athletic races, such as cycling and types of speed skating races, athletes have to complete a relatively long distance at a high speed in the presence of direct opponents. To win such a race, athletes are motivated to hide behind others to suppress energy consumption before a final moment of the race. This situation seems to produce a social dilemma: players want to hide behind others, whereas if a group of players attempts to do so, they may all lose to other players that overtake them. To support that speed skaters are involved in such a social dilemma, we analyzed video footage data for 14 mass start skating races to find that skaters that hid behind others to avoid air resistance for a long time before the final lap tended to win. Furthermore, the finish rank of the skaters in mass start races was independent of the record of the same skaters in time-trial races measured in the absence of direct opponents. The results suggest that how to strategically cope with a skater’s dilemma may be a key determinant for winning long-distance and high-speed races with direct *** Codes 91A80 Copyright © 2020, The Authors. All rights reserved.

关键词： Game theory

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Advancing the Use of Longitudinal Electronic Health Records: Tutorial for Uncovering Real-World Evidence in Chronic Disease Outcomes

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Journal of Medical Internet Research 2025年第1期27卷 e71873页

作者： Huang, Feiqing Hou, Jue Zhou, Ningxuan Greco, Kimberly Lin, Chenyu Sweet, Sara Morini Wen, Jun Shen, Lechen Gonzalez, Nicolas Zhang, Sinian Liao, Katherine P. Cai, Tianrun Xia, Zongqi Bourgeois, Florence T. Cai, Tianxi Department of Biostatistics Harvard T.H. Chan School of Public Health Boston MA United States Harvard-MIT Center for Regulatory Science Harvard Medical School Boston MA United States Division of Biostatistics and Health Data Science School of Public Health University of Minnesota Minneapolis MN United States Department of Biomedical Informatics Harvard Medical School Boston MA United States Department of Engineering University of Toronto Toronto ON Canada Division of Rheumatology Inflammation and Immunity Brigham and Women's Hospital Boston MA United States Department of Neurology University of Pittsburgh Pittsburgh PA United States Computational Health Informatics Program (CHIP) Boston Children's Hospital Boston MA United States Department of Pediatrics Harvard Medical School Boston MA United States

Managing chronic diseases requires ongoing monitoring of disease activity and therapeutic responses to optimize treatment plans. With the growing availability of disease-modifying therapies, it is crucial to investigate comparative effectiveness and long-term outcomes beyond those available from randomized clinical trials. We introduce a comprehensive pipeline for generating reproducible and generalizable real-world evidence on disease outcomes by leveraging electronic health record data. The pipeline first generates scalable disease outcomes by linking electronic health record data with registry data containing a small sample of labeled outcomes. It then applies causal analysis using these scalable outcomes to evaluate therapies for chronic diseases. The implementation of the pipeline is illustrated in a case study based on multiple sclerosis. Our approach addresses challenges in real-world evidence generation for disease activity of chronic conditions, specifically the lack of direct observations on key outcomes and biases arising from imperfect or incomplete data. We present advanced machine learning techniques such as semisupervised and ensemble methods to impute missing outcome data, further incorporating steps for calibrated causal analyses and bias correction. ©Feiqing Huang, Jue Hou, Ningxuan Zhou, Kimberly Greco, Chenyu Lin, Sara Morini Sweet, Jun Wen, Lechen Shen, Nicolas Gonzalez, Sinian Zhang, Katherine P Liao, Tianrun Cai, Zongqi Xia, Florence T Bourgeois, Tianxi Cai.

关键词： calibration causal inference chronic disease outcomes data imputation electronic health records longitudinal disease activity machine learning real-world evidence

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BigNeuron: a resource to benchmark and predict performance of algorithms for automated tracing of neurons in light microscopy datasets

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Nature methods 2023年第6期20卷 824-835页

作者： Linus Manubens-Gil Zhi Zhou Hanbo Chen Arvind Ramanathan Xiaoxiao Liu Yufeng Liu Alessandro Bria Todd Gillette Zongcai Ruan Jian Yang Miroslav Radojević Ting Zhao Li Cheng Lei Qu Siqi Liu Kristofer E Bouchard Lin Gu Weidong Cai Shuiwang Ji Badrinath Roysam Ching-Wei Wang Hongchuan Yu Amos Sironi Daniel Maxim Iascone Jie Zhou Erhan Bas Eduardo Conde-Sousa Paulo Aguiar Xiang Li Yujie Li Sumit Nanda Yuan Wang Leila Muresan Pascal Fua Bing Ye Hai-Yan He Jochen F Staiger Manuel Peter Daniel N Cox Michel Simonneau Marcel Oberlaender Gregory Jefferis Kei Ito Paloma Gonzalez-Bellido Jinhyun Kim Edwin Rubel Hollis T Cline Hongkui Zeng Aljoscha Nern Ann-Shyn Chiang Jianhua Yao Jane Roskams Rick Livesey Janine Stevens Tianming Liu Chinh Dang Yike Guo Ning Zhong Georgia Tourassi Sean Hill Michael Hawrylycz Christof Koch Erik Meijering Giorgio A Ascoli Hanchuan Peng Institute for Brain and Intelligence Southeast University Nanjing China. Microsoft Corporation Redmond WA USA. Tencent AI Lab Bellevue WA USA. Computing Environment and Life Sciences Directorate Argonne National Laboratory Lemont IL USA. Kaya Medical Seattle WA USA. University of Cassino and Southern Lazio Cassino Italy. Center for Neural Informatics Structures and Plasticity Krasnow Institute for Advanced Study George Mason University Fairfax VA USA. Faculty of Information Technology Beijing University of Technology Beijing China. Beijing International Collaboration Base on Brain Informatics and Wisdom Services Beijing China. Nuctech Netherlands Rotterdam the Netherlands. Janelia Research Campus Howard Hughes Medical Institute Ashburn VA USA. Department of Electrical and Computer Engineering University of Alberta Edmonton Alberta Canada. Ministry of Education Key Laboratory of Intelligent Computation and Signal Processing Anhui University Hefei China. Paige AI New York NY USA. Scientific Data Division and Biological Systems and Engineering Division Lawrence Berkeley National Lab Berkeley CA USA. Helen Wills Neuroscience Institute and Redwood Center for Theoretical Neuroscience UC Berkeley Berkeley CA USA. RIKEN AIP Tokyo Japan. Research Center for Advanced Science and Technology (RCAST) The University of Tokyo Tokyo Japan. School of Computer Science University of Sydney Sydney New South Wales Australia. Texas A&M University College Station TX USA. Cullen College of Engineering University of Houston Houston TX USA. Graduate Institute of Biomedical Engineering National Taiwan University of Science and Technology Taipei Taiwan. National Centre for Computer Animation Bournemouth University Poole UK. PROPHESEE Paris France. Department of Neuroscience Columbia University New York NY USA. Mortimer B. Zuckerman Mind Brain Behavior Institute Columbia University New York NY USA. Department of Computer Science Northern Illinois Universit

BigNeuron is an open community bench-testing platform with the goal of setting open standards for accurate and fast automatic neuron tracing. We gathered a diverse set of image volumes across several species that is representative of the data obtained in many neuroscience laboratories interested in neuron tracing. Here, we report generated gold standard manual annotations for a subset of the available imaging datasets and quantified tracing quality for 35 automatic tracing algorithms. The goal of generating such a hand-curated diverse dataset is to advance the development of tracing algorithms and enable generalizable benchmarking. Together with image quality features, we pooled the data in an interactive web application that enables users and developers to perform principal component analysis, t-distributed stochastic neighbor embedding, correlation and clustering, visualization of imaging and tracing data, and benchmarking of automatic tracing algorithms in user-defined data subsets. The image quality metrics explain most of the variance in the data, followed by neuromorphological features related to neuron size. We observed that diverse algorithms can provide complementary information to obtain accurate results and developed a method to iteratively combine methods and generate consensus reconstructions. The consensus trees obtained provide estimates of the neuron structure ground truth that typically outperform single algorithms in noisy datasets. However, specific algorithms may outperform the consensus tree strategy in specific imaging conditions. Finally, to aid users in predicting the most accurate automatic tracing results without manual annotations for comparison, we used support vector machine regression to predict reconstruction quality given an image volume and a set of automatic tracings.

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GREGoR: Accelerating Genomics for Rare Diseases

arXiv

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arXiv 2024年

作者： Dawood, Moez Heavner, Ben Wheeler, Marsha M. Ungar, Rachel A. LoTempio, Jonathan Wiel, Laurens Berger, Seth Bernstein, Jonathan A. Chong, Jessica X. Délot, Emmanuèle C. Eichler, Evan E. Gibbs, Richard A. Lupski, James R. Shojaie, Ali Talkowski, Michael E. Wagner, Alex H. Wei, Chia-Lin Wellington, Christopher Wheeler, Matthew T. Carvalho, Claudia M.B. Gifford, Casey A. May, Susanne Miller, Danny E. Rehm, Heidi L. Sedlazeck, Fritz J. Vilain, Eric O'Donnell-Luria, Anne Posey, Jennifer E. Chadwick, Lisa H. Bamshad, Michael J. Montgomery, Stephen B. Human Genome Sequencing Center Baylor College of Medicine HoustonTX United States Department of Molecular and Human Genetics Baylor College of Medicine HoustonTX United States Medical Scientist Training Program Baylor College of Medicine HoustonTX United States Department of Biostatistics University of Washington SeattleWA United States Department of Genetics School of Medicine Stanford University StanfordCA United States Department of Pathology School of Medicine Stanford University Stanford CA United States Stanford Center for Biomedical Ethics School of Medicine Stanford University Stanford CA United States Institute for Clinical and Translational Science University of California IrvineCA United States Division of Cardiovascular Medicine School of Medicine Stanford University Stanford CA United States Division of Genetics and Metabolism Children’s National Rare Disease Institute WashingtonDC United States Center for Genetic Medicine Research Children’s National Rare Disease Institute WashingtonDC United States Department of Genomics and Precision Medicine George Washington University WashingtonDC United States Department of Pediatrics School of Medicine Stanford University Stanford CA United States Department of Pediatrics Dvision of Genetic Medicine University of Washington SeattleWA United States Brotman Baty Institute for Precision Medicine University of Washington SeattleWA United States Department of Genome Sciences University of Washington SeattleWA United States Howard Hughes Medical Institute University of Washington SeattleWA United States Department of Pediatrics Baylor College of Medicine HoustonTX United States Center for Genomic Medicine Massachusetts General Hospital BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard BostonMA United States Department of Neurology Massachusetts General Hospital Harvard Medical School BostonMA United States Stanley Center for

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic data science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://***/data). The majority of these families have undergone prior clinical genetic testing but remained unsolved, with most being exome-negative. Here, we describe the collaborative research framework, datasets, and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics. © 2024, CC BY.

关键词： Genome

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Non-invasive biopsy diagnosis of diabetic kidney disease via deep learning applied to retinal images: a population-based study

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The Lancet Digital Health 2025年第5期7卷 100868页

作者： Meng, Ziyao Guan, Zhouyu Yu, Shujie Wu, Yilan Zhao, Yaoning Shen, Jie Lim, Cynthia Ciwei Chen, Tingli Yang, Dawei Ran, An Ran He, Feng Hamzah, Haslina Singh, Sarkaaj Abd Raof, Anis Syazwani Lee-Boey, Jian Wen Samuel Lim, Soo-Kun Sun, Xufang Ge, Shuwang Xu, Gang Su, Hua Cheng, Yang Lu, Feng Liao, Xiaofei Jin, Hai Deng, Chenxin Ruan, Lei Zhang, Cuntai Wu, Chan Dai, Rongping Jin, Yixiao Wang, Wenxiao Li, Tingyao Liu, Ruhan Li, Jiajia Shu, Jia Lu, Yuwei Wang, Xiangning Wu, Qiang Qin, Yiming Tang, Jin Sheng, Xiaohua Jiao, Qiong Yang, Xiaokang Guo, Minyi McKay, Gareth J Hogg, Ruth E Liew, Gerald Chee, Evelyn Yi Lyn Hsu, Wynne Lee, Mong Li Szeto, Simon Luk, Andrea O Y Chan, Juliana C N Cheung, Carol Y Tan, Gavin Siew Wei Tham, Yih-Chung Cheng, Ching-Yu Sabanayagam, Charumathi Lim, Lee-Ling Jia, Weiping Li, Huating Sheng, Bin Wong, Tien Yin Shanghai Belt and Road International Joint Laboratory of Intelligent Prevention and Treatment for Metabolic Diseases Department of Computer Science and Engineering School of Electronic Information and Electrical Engineering Institute for Proactive Healthcare Shanghai Jiao Tong University Department of Endocrinology and Metabolism Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai Diabetes Institute Shanghai Clinical Centre for Diabetes Shanghai Key Laboratory of Diabetes Mellitus Shanghai China MOE Key Laboratory of AI School of Electronic Information and Electrical Engineering Shanghai Jiao Tong University Shanghai China Beijing Tsinghua Changgung Hospital Eye Center School of Clinical Medicine Tsinghua Medicine Tsinghua University Beijing China Medical Records and Statistics Office Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China Department of Renal Medicine Singapore General Hospital SingHealth-Duke Academic Medical Centre Singapore Singapore Department of Ophthalmology Shanghai Health and Medical Center Wuxi China Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong Hong Kong Special Administrative Region China Singapore Eye Research Institute Singapore National Eye Centre Singapore Department of Medicine Faculty of Medicine Universiti Malaya Kuala Lumpur Malaysia Department of Ophthalmology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Hubei Wuhan China Department of Nephrology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China Department of Nephrology Union Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China Department of Ophthalmology Union Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China National Engineering Research Centre for Big Dat

Background: Improving the accessibility of screening diabetic kidney disease (DKD) and differentiating isolated diabetic nephropathy from non-diabetic kidney disease (NDKD) are two major challenges in the field of diabetes care. We aimed to develop and validate an artificial intelligence (AI) deep learning system to detect DKD and isolated diabetic nephropathy from retinal fundus images. Methods: In this population-based study, we developed a retinal image-based AI-deep learning system, DeepDKD, pretrained using 734 084 retinal fundus images. First, for DKD detection, we used 486 312 retinal images from 121 578 participants in the Shanghai Integrated Diabetes Prevention and Care System for development and internal validation, and ten multi-ethnic datasets from China, Singapore, Malaysia, Australia, and the UK (65 406 participants) for external validation. Second, to differentiate isolated diabetic nephropathy from NDKD, we used 1068 retinal images from 267 participants for development and internal validation, and three multi-ethnic datasets from China, Malaysia, and the UK (244 participants) for external validation. Finally, we conducted two proof-of-concept studies: a prospective real-world study with 3 months' follow-up to evaluate the effectiveness of DeepDKD in screening DKD;and a longitudinal analysis of the effectiveness of DeepDKD in differentiating isolated diabetic nephropathy from NDKD on renal function changes with 4·6 years' follow-up. Findings: For detecting DKD, DeepDKD achieved an area under the receiver operating characteristic curve (AUC) of 0·842 (95% CI 0·838–0·846) on the internal validation dataset and AUCs of 0·791–0·826 across external validation datasets. For differentiating isolated diabetic nephropathy from NDKD, DeepDKD achieved an AUC of 0·906 (0·825–0·966) on the internal validation dataset and AUCs of 0·733–0·844 across external validation datasets. In the prospective study, compared with the metadata model, DeepDKD could detect DKD wit

关键词： Deep learning

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An Open-Source Knowledge Graph Ecosystem for the Life sciences

arXiv

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arXiv 2023年

作者： Callahan, Tiffany J. Tripodi, Ignacio J. Stefanski, Adrianne L. Cappelletti, Luca Taneja, Sanya B. Wyrwa, Jordan M. Casiraghi, Elena Matentzoglu, Nicolas A. Reese, Justin Silverstein, Jonathan C. Hoyt, Charles Tapley Boyce, Richard D. Malec, Scott A. Unni, Deepak R. Joachimiak, Marcin P. Robinson, Peter N. Mungall, Christopher J. Cavalleri, Emanuele Fontana, Tommaso Valentini, Giorgio Mesiti, Marco Gillenwater, Lucas A. Santangelo, Brook Vasilevsky, Nicole A. Hoehndorf, Robert Bennett, Tellen D. Ryan, Patrick B. Hripcsak, George Kahn, Michael G. Bada, Michael Baumgartner, William A. Hunter, Lawrence E. Computational Bioscience Program University of Colorado Anschutz Medical Campus AuroraCO80045 United States Department of Biomedical Informatics Columbia University Irving Medical Center New YorkNY10032 United States Computer Science Department Interdisciplinary Quantitative Biology University of Colorado Boulder BoulderCO80301 United States AnacletoLab Computer Science Department University of Milan 20122 Italy Intelligent Systems Program University of Pittsburgh PittsburghPA15260 United States Department of Physical Medicine and Rehabilitation School of Medicine University of Colorado Anschutz Medical Campus AuroraCO80045 United States Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory BerkeleyCA94720 United States Semanticly Ltd Athens Greece Department of Biomedical Informatics University of Pittsburgh School of Medicine PittsburghPA15206 United States Laboratory of Systems Pharmacology Harvard Medical School BostonMA02115 United States Division of Translational Informatics University of New Mexico School of Medicine AlbuquerqueNM87131 United States SIB Swiss Institute of Bioinformatics Basel Switzerland Berlin Institute of Health at Charité-Universitatsmedizin Berlin10117 Germany ELLIS European Laboratory for Learning and Intelligent Systems Germany Department of Biomedical Informatics University of Colorado School of Medicine AuroraCO80045 United States Data Collaboration Center Critical Path Institute 1840 E River Rd. Suite 100 TucsonAZ85718 United States Computer Electrical and Mathematical Sciences & Engineering Division Computational Bioscience Research Center King Abdullah University of Science and Technology Thuwal23955-6900 Saudi Arabia Department of Pediatrics University of Colorado School of Medicine AuroraCO80045 United States Janssen Research and Development RaritanNJ08869 United States Division of General Internal Medicine University of Colorado School of Medicine A

Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled. Moreover, existing KG construction methods provide robust tooling at the cost of fixed or limited choices among knowledge representation models. PheKnowLator (Phenotype Knowledge Translator) is a semantic ecosystem for automating the FAIR (Findable, Accessible, Interoperable, and Reusable) construction of ontologically grounded KGs with fully customizable knowledge representation. The ecosystem includes KG construction resources (e.g., data preparation APIs), analysis tools (e.g., SPARQL endpoints and abstraction algorithms), and benchmarks (e.g., prebuilt KGs and embeddings). We evaluated the ecosystem by systematically comparing it to existing open-source KG construction methods and by analyzing its computational performance when used to construct 12 large-scale KGs. With flexible knowledge representation, PheKnowLator enables fully customizable KGs without compromising performance or usability. © 2023, CC BY.

关键词： Ecosystems

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Superior Metal-Organic Framework Activation with Dimethyl Ether

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Angewandte Chemie 2022年第52期134卷

作者： Keenan R. Wright Dr. Karabi Nath Prof. Dr. Adam J. Matzger Department of Chemistry Institution University of Michigan 930 North University Avenue Ann Arbor MI 48109-1055 USA Contribution: Conceptualization (lead) Data curation (lead) Investigation (lead) Methodology (lead) Writing - original draft (lead) Writing - review & editing (lead) Contribution: Methodology (supporting) Writing - review & editing (supporting) Department of Chemistry and Macromolecular Science and Engineering Program University of Michigan 930 North University Avenue Ann Arbor MI 48109-1055 USA

Metal–organic frameworks (MOFs) are demonstrated to be readily activated by treatment with the low surface tension, low boiling point solvent dimethyl ether (DME). The mildness of the method enables access to high surface areas by avoiding structural changes in the framework that often plague thermal activation methods. A distinction from previous methods is that DME activation succeeds for materials with coordinatively unsaturated sites (CUS) and non-CUS MOFs as well. DME displaces solvent molecules occupying the pores of the MOF as well as those coordinated to metal centers; reducing evacuation temperature by using a coordinating, yet highly volatile guest enables low temperature activation with structural retention as demonstrated surface area measurements that match or exceed existing activation protocols.

关键词： Coordination Chemistry Metal–Organic Frameworks Microporous Materials Structural Collapse Surface Area

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In silico bacteria evolve robust cooperation via complex quorum-sensing strategies (vol 10, 8628, 2020)yy

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SCIENTIFIC REPORTS 2020年第1期10卷 1-10页

作者： Wang, Yifei Rattray, Jennifer B. Thomas, Stephen A. Gurney, James Brown, Sam P. School of Biological Sciences Georgia Institute of Technology Atlanta 30332 GA USA. yifei.wang@gatech.edu. The Institute for Data Engineering and Science (IDEaS) Georgia Institute of Technology Atlanta 30332 GA USA. yifei.wang@gatech.edu. Center for Microbial Dynamics and Infection Georgia Institute of Technology Atlanta 30332 GA USA. yifei.wang@gatech.edu. School of Biological Sciences Georgia Institute of Technology Atlanta 30332 GA USA. Center for Microbial Dynamics and Infection Georgia Institute of Technology Atlanta 30332 GA USA. Graduate Program in Quantitative Biosciences (QBioS) Georgia Institute of Technology Atlanta 30332 GA USA. School of Biological Sciences Georgia Institute of Technology Atlanta 30332 GA USA. sam.brown@biology.gatech.edu. Center for Microbial Dynamics and Infection Georgia Institute of Technology Atlanta 30332 GA USA. sam.brown@biology.gatech.edu.

Many species of bacteria collectively sense and respond to their social and physical environment via 'quorum sensing' (QS), a communication system controlling extracellular cooperative traits. Despite detailed understanding of the mechanisms of signal production and response, there remains considerable debate over the functional role(s) of QS: in short, what is it for? Experimental studies have found support for diverse functional roles: density sensing, mass-transfer sensing, genotype sensing, etc. While consistent with theory, these results cannot separate whether these functions were drivers of QS adaption, or simply artifacts or 'spandrels' of systems shaped by distinct ecological pressures. The challenge of separating spandrels from drivers of adaptation is particularly hard to address using extant bacterial species with poorly understood current ecologies (let alone their ecological histories). To understand the relationship between defined ecological challenges and trajectories of QS evolution, we used an agent-based simulation modeling approach. Given genetic mixing, our simulations produce behaviors that recapitulate features of diverse microbial QS systems, including coercive (high signal/low response) and generalized reciprocity (signal auto-regulation) strategists - that separately and in combination contribute to QS-dependent resilience of QS-controlled cooperation in the face of diverse cheats. We contrast our in silico results given defined ecological challenges with bacterial QS architectures that have evolved under largely unknown ecological contexts, highlighting the critical role of genetic constraints in shaping the shorter term (experimental evolution) dynamics of QS. More broadly, we see experimental evolution of digital organisms as a complementary tool in the search to understand the emergence of complex QS architectures and functions.

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Situation awareness assessment using eye movements and verbal response scoring metrics

Situation awareness assessment using eye movements and verba...

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2018 Institute of Industrial and Systems Engineers Annual Conference and Expo, IISE 2018

作者： Kang, Ziho Jeon, Jiwon Kiran, Raj Salehi, Saeed Ybarra, Vincent T. Cokely, Edward T. School of Industrial and Systems Engineering United States Data Science and Analytics Program College of Engineering United States School of Petroleum and Geological Engineering United States Department of Psychology United States National Institute for Risk and Resilience University of Oklahoma NormanOK73019 United States

We investigated the benefits of integrating subjective measures (e.g. verbal responses) with biometrics (e.g. eye tracking) for analyses of situation awareness (SA) in complex, high-stakes tasks. Specifically, the techniques were applied to the field of oil and gas drilling. A pre-existing accident scenario, based on gas influx incidents at the North Sea Rigs, was implemented into a virtual reality offshore operation simulation study where novice and expert participants completed the same, standardized drilling task. Verbal responses and visual oculomotor data were collected simultaneously during real-time simulated incident management. Analyses revealed both converging and unique insights of both metrics, mapping the content and time-course of critical differences in situation awareness. Discussion focuses on cognitive mechanisms mediating expert-novice differences and benefits of integrated decision vulnerability assessment in naturalistic, simulation-based research. © 2018 Institute of Industrial Engineers (IIE). All rights reserved.

关键词： Offshore drilling

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In-silico structural and functional analysis of nonsynonymous single nucleotide polymorphisms in human FOLH1 gene

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In silico pharmacology 2025年第1期13卷 32页

作者： Abtin Tondar Muhammad Irfan Sergio Sánchez-Herrero Hafsa Athar Aleena Haqqi Asim Kumar Bepari Laura Calvet Liñán David Hervás Marin Department of Computer Science Multimedia and Telecommunication Interuniversity Doctoral Program in Bioinformatics Universitat Oberta de Catalunya Barcelona (UOC) Spain. Stanford Deep Data Research Center Stanford University Stanford USA. Atta-Ur-Rahman School of Applied Biosciences (ASAB) National University of Sciences and Technology (NUST) Islamabad Punjab Pakistan. School of Medical Laboratory Technology Minhaj University Lahore (MUL) Lahore Punjab Pakistan. Department of Pharmaceutical Sciences North South University (NSU) Dhaka Bangladesh. Telecommunications and Systems Engineering Department Universitat Autònoma de Barcelona (UAB) Sabadell Spain. Department of Applied Statistics and Operational Research and Quality Alcoy Universitat Politècnica de València (UPV) Alcoy Spain.

Non-synonymous single nucleotide polymorphisms (nsSNPs), also known as missense SNPs, can seriously affect an individual’s vulnerability to numerous diseases, including cancer. In this study, we conducted a comprehensive in-silico analysis to examine the structural and functional implications of nsSNPs within the Folate Hydrolase 1(FOLH1) gene, which encodes the Prostate-Specific Membrane Antigen (PSMA). A total of 504 SNPs were retrieved, and after filtering, 15 pathogenic nsSNPs were identified using five different in-silico tools. Three of these SNPs—R255H (rs375565491), R255C (rs201789325), and G168E (rs267602926)—were consistently predicted to be pathogenic across all in-silico tools. MutPred2 was used to predict the structural and functional consequences of the identified mutations. The analysis revealed multiple alterations in the PSMA protein, including changes in helical conformations, glycosylation patterns, transmembrane properties, and solvent accessibility. Furthermore, I-Mutant 2.0 analysis demonstrated a decrease in protein stability for most nsSNPs, except for rs267602926 (G168E), which was predicted to increase stability. Conservation analysis using ConSurf revealed varying degrees of amino acid conservation, with R255H and R255C identified as highly conserved residues, indicating their potential functional and structural significance. Additionally, post-translational modification (PTM) analysis indicated that while phosphorylation and methylation sites remained unchanged, specific glycosylation sites were lost in two pathogenic mutant variants (R255H and R255C), potentially affecting PSMA function and adversely impacting prostate cancer. Our findings highlight the importance of in silico studies to investigate the structural and functional impacts of FOLH1 nsSNPs on the PSMA protein. Such in silico studies can deepen our understanding of the roles of nsSNPs in prostate cancer onset, progression, and drug resistance.

关键词： FOLH1 In-silico structural and functional analyses PSMA PTM nsSNPs

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