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

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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Performance of multimodal prediction models for intracerebral hemorrhage outcomes using real-world data

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International Journal of Medical Informatics 2025年 202卷 105989-105989页

作者： Matsumoto, Koutarou Suzuki, Masahiro Ishihara, Kazuaki Tokunaga, Koki Matsuda, Katsuhiko Chen, Jenhui Yamashiro, Shigeo Soejima, Hidehisa Nakashima, Naoki Kamouchi, Masahiro Department of Health Care Administration and Management of Medical Sciences Kyushu University Fukuoka Japan Graduate Degree Program of Applied Data Sciences Sophia University Tokyo Japan Department of Computer Science and Information Engineering Chang Gung University Taoyuan Taiwan Department of Pharmacy Saiseikai Kumamoto Hospital Kumamoto Japan Department of Radiology Saiseikai Kumamoto Hospital Kumamoto Japan Division of Neurosurgery Saiseikai Kumamoto Hospital Kumamoto Japan Institute for Medical Information Research and Analysis Saiseikai Kumamoto Hospital Kumamoto Japan Medical Information Center Kyushu University Hospital Fukuoka Japan Department of Medical Informatics of Medical Sciences Kyushu University Fukuoka Japan Center for Cohort Studies of Medical Sciences Kyushu University Fukuoka Japan

Background: We aimed to develop and validate multimodal models integrating computed tomography (CT) images, text and tabular clinical data to predict poor functional outcomes and in-hospital mortality in patients with intracerebral hemorrhage (ICH). These models were designed to assist non-specialists in emergency settings with limited access to stroke specialists. Methods: A retrospective analysis of 527 patients with ICH admitted to a Japanese tertiary hospital between April 2019 and February 2022 was conducted. Deep learning techniques were used to extract features from three-dimensional CT images and unstructured data, which were then combined with tabular data to develop an L1-regularized logistic regression model to predict poor functional outcomes (modified Rankin scale score 3–6) and in-hospital mortality. The model's performance was evaluated by assessing discrimination metrics, calibration plots, and decision curve analysis (DCA) using temporal validation data. Results: The multimodal model utilizing both imaging and text data, such as medical interviews, exhibited the highest performance in predicting poor functional outcomes. In contrast, the model that combined imaging with tabular data, including physiological and laboratory results, demonstrated the best predictive performance for in-hospital mortality. These models exhibited high discriminative performance, with areas under the receiver operating curve (AUROCs) of 0.86 (95% CI: 0.79–0.92) and 0.91 (95% CI: 0.84–0.96) for poor functional outcomes and in-hospital mortality, respectively. Calibration was satisfactory for predicting poor functional outcomes, but requires refinement for mortality prediction. The models performed similar to or better than conventional risk scores, and DCA curves supported their clinical utility. Conclusion: Multimodal prediction models have the potential to aid non-specialists in making informed decisions regarding ICH cases in emergency departments as part of clinical dec

关键词： Logistic regression

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Modeling temporal networks with bursty activity patterns of nodes and links

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Physical Review Research 2020年第2期2卷 023073-023073页

作者： Takayuki Hiraoka Naoki Masuda Aming Li Hang-Hyun Jo Department of Computer Science Aalto University Espoo 00076 Finland Asia Pacific Center for Theoretical Physics Pohang 37673 Republic of Korea Department of Mathematics University at Buffalo State University of New York Buffalo New York 14260-2900 USA Computational and Data-Enabled Science and Engineering Program University at Buffalo State University of New York Buffalo New York 14260-5030 USA Department of Zoology University of Oxford Oxford OX1 3PS United Kingdom Department of Biochemistry University of Oxford Oxford OX1 3QU United Kingdom Department of Physics The Catholic University of Korea Bucheon 14662 Republic of Korea

The concept of temporal networks provides a framework to understand how the interaction between system components changes over time. In empirical communication data, we often detect non-Poissonian, so-called bursty behavior in the activity of nodes as well as in the interaction between nodes. However, such reconciliation between node burstiness and link burstiness cannot be explained if the interaction processes on different links are independent of each other. This is because the activity of a node is the superposition of the interaction processes on the links incident to the node, and the superposition of independent bursty point processes is not bursty in general. Here we introduce a temporal network model based on bursty node activation, and we show that it leads to heavy-tailed interevent time distributions for both node dynamics and link dynamics. Our analysis indicates that activation processes intrinsic to nodes give rise to dynamical correlations across links. Our framework offers a way to model competition and correlation between links, which is key to understanding dynamical processes in various systems.

关键词： Collective behavior in networks Dynamics of networks Scaling laws of complex systems Social systems Communication networks Multiple time scale dynamics Networks & random structures Social networks Evolving network models Network Models Non-Markovian processes Time series analysis

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The 2022 report of the Lancet Countdown on health and climate change: health at the mercy of fossil fuels (vol 400, pg 1619, 2022)

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LANCET 2022年第10365期400卷 1766-1766页

作者： Romanello, M. Di Napoli, C. Drummond, P. Institute for Global Health University College London London UK School of Agriculture Policy and Development University of Reading Reading UK Institute for Sustainable Resources University College London London UK Department of Global Health Centre for Health and the Global Environment University of Washington Seattle WA USA UCL Energy Institute University College London London UK Department of Health Sciences University of York York UK Department of Meteorology University of Reading Reading UK Institute for Risk and Disaster Reduction University College London London UK School of Earth and Environment University of Leeds Leeds UK Centre on Climate Change and Planetary Health London School of Hygiene & Tropical Medicine London UK School of Population Health University of Melbourne Melbourne VIC Australia Department of Earth System Science Tsinghua University Beijing China Mercator Research Institute on Global Commons and Climate Change Berlin Germany Department of Environment Climate Change and Health World Health Organization Geneva Switzerland Institute of Environmental Sciences University of Geneva Geneva Switzerland Cardiovascular Epidemiology Unit Department of Public Health & Primary Care University of Cambridge Cambridge UK School of Government University of Birmingham Birmingham UK Economic Analysis of Climate Impacts and Policy Division Centro Euro-Mediterraneo sui Cambiamenti Climatici Venice Italy Institute for Environmental Design and Engineering University College London London UK Natural Resources Institute University of Greenwich London UK Department of Environmental Health Sciences and Yale Center on Climate Change and Health Yale University New Haven CT USA Department of Civil and Environmental Engineering Northeastern University Boston MA USA Department of Fish and Wildlife Conservation Virginia Polytechnic Institute and State University Blacksburg VA USA Department of Geography University College London London UK NU

With advancements in the science of detection and attribution studies, the influence of climate change over many events has now been quantified. Because of the rapidly increasing temperatures, vulnerable populations (adults older than 65 years, and children younger than one year of age) were exposed to 3·7 billion more heatwave days in 2021 than annually in 1986–2005 (indicator 1.1.2), and heat-related deaths increased by 68% between 2000–04 and 2017–21 (indicator 1.1.5), a death toll that was significantly exacerbated by the confluence of the COVID-19 pandemic. Despite the local cooling and overall health benefits of urban greenspaces, only 277 (27%) of 1038 global urban centres were at least moderately green in 2021 (indicator 2.2.3), and the number of households with air conditioning increased by 66% from 2000 to 2020, a maladaptive response that worsens the energy crisis and further increases urban heat, air pollution, and greenhouse gas emissions. [...]millions of people do not have access to the energy needed to keep their homes at healthy temperatures, preserve food and medication, and meet the seventh Sustainable Development Goal (to ensure access to affordable, reliable, sustainable, and modern energy for all). Aggravating this situation even further, governments continue to incentivise fossil fuel production and consumption: 69 (80%) of 86 countries reviewed had net-negative carbon prices (ie, provided a net subsidy to fossil fuels) for a net total of US$400 billion

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Recurrence quantification analysis of dynamic brain networks

arXiv

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arXiv 2020年

作者： Lopes, Marinho A. Zhang, Jiaxiang Krzemiński, Dominik Hamandi, Khalid Chen, Qi Livi, Lorenzo Masuda, Naoki Department of Engineering Mathematics University of Bristol BS8 1UB United Kingdom Cardiff University Brain Research Imaging Centre School of Psychology Cardiff University CardiffCF24 4HQ United Kingdom Center for Studies of Psychological Application School of Psychology South China Normal University Guangzhou510631 China Departments of Computer Science and Mathematics University of Manitoba WinnipegMBR3T 2N2 Canada Department of Computer Science College of Engineering Mathematics and Physical Sciences University of Exeter ExeterEX4 4QF United Kingdom Department of Mathematics University at Buffalo State University of New York United States Computational and Data-Enabled Science and Engineering Program University at Buffalo State University of New York United States

Evidence suggests that brain network dynamics is a key determinant of brain function and dysfunction. Here we propose a new framework to assess the dynamics of brain networks based on recurrence analysis. Our framework uses recurrence plots and recurrence quantification analysis to characterize dynamic networks. For resting-state magnetoencephalographic dynamic functional networks (dFNs), we have found that functional networks recur more quickly in people with epilepsy than healthy controls. This suggests that recurrence of dFNs may be used as a biomarker of epilepsy. For stereo electroencephalography data, we have found that dFNs involved in epileptic seizures emerge before seizure onset, and recurrence analysis allows us to detect seizures. We further observe distinct dFNs before and after seizures, which may inform neurostimulation strategies to prevent seizures. Our framework can also be used for understanding dFNs in brain function in health and other neurological disorders. Copyright © 2020, The Authors. All rights reserved.

关键词： Electroencephalography

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The Minimum Information about CLinical Artificial Intelligence Checklist for Generative Modeling Research (MI-CLAIM-GEN)

arXiv

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arXiv 2024年

作者： Miao, Brenda Y. Chen, Irene Y. Williams, Christopher Y.K. Davidson, Jaysón Garcia-Agundez, Augusto Sun, Shenghuan Zack, Travis Saria, Suchi Arnaout, Rima Quer, Giorgio Sadaei, Hossein J. Torkamani, Ali Beaulieu-Jones, Brett Yu, Bin Gianfrancesco, Milena Butte, Atul J. Norgeot, Beau Sushil, Madhumita Bakar Computational Health Sciences Institute University of California San Francisco San FranciscoCA United States UCSF-UC Berkeley Joint Program in Computational Precision Health University of California Berkeley University of California San Francisco BerkeleyCA United States Department of Electrical Engineering and Computer Sciences University of California Berkeley BerkeleyCA United States Berkeley AI Research University of California Berkeley BerkeleyCA United States Department of Medicine Division of Rheumatology University of California San Francisco San FranciscoCA United States Helen Diller Family Comprehensive Cancer Center University of California San Francisco San FranciscoCA United States Center for Data-driven Insights and Innovation University of California Office of the President OaklandCA United States Bayesian Health New YorkNY10282 United States Department of Computer Science Johns Hopkins University Whiting School of Engineering BaltimoreMD United States Department of Health Policy & Management Johns Hopkins University Bloomberg School of Public Health BaltimoreMD United States Department of Medicine Johns Hopkins Medicine BaltimoreMD21205 United States Departments of Medicine Radiology and Pediatrics University of California San Francisco San FranciscoCA United States Scripps Research Translational Institute La Jolla CA United States Department of Integrative Structural and Computational Biology Scripps Research La Jolla CA92037 United States Department of Medicine University of Chicago ChicagoIL United States Department of Statistics University of California Berkeley BerkeleyCA United States Center for Computational Biology University of California Berkeley BerkeleyCA United States Qualified Health PBC Palo AltoCA United States

Recent advances in generative models, including large language models (LLMs), vision language models (VLMs), and diffusion models, have accelerated the field of natural language and image processing in medicine and marked a significant paradigm shift in how biomedical models can be developed and deployed. While these models are highly adaptable to new tasks, scaling and evaluating their usage presents new challenges not addressed in previous frameworks. In particular, the ability of these models to produce useful outputs with little to no specialized training data ("zero-" or "few-shot" approaches), as well as the open-ended nature of their outputs, necessitate the development of new guidelines for robust reporting of clinical generative model research. In response to gaps in standards and best practices for the development of clinical AI tools identified by US Executive Order 141103 and several emerging national networks for clinical AI evaluation, we begin to formalize some of these guidelines by building on the original MI-CLAIM checklist. The new checklist, MI-CLAIM-GEN (Table 1), aims to address differences in training, evaluation, interpretability, and reproducibility of new generative models compared to non-generative ("predictive") AI models. This MI-CLAIM-GEN checklist also seeks to clarify cohort selection reporting with unstructured clinical data and adds additional items on alignment with ethical standards for clinical AI research. © 2024, CC BY.

关键词： Generative adversarial networks

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DeePMD-kit v2: A software package for Deep Potential models

arXiv

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arXiv 2023年

作者： Zeng, Jinzhe Zhang, Duo Lu, Denghui Mo, Pinghui Li, Zeyu Chen, Yixiao Rynik, Marián Huang, Li'ang Li, Ziyao Shi, Shaochen Wang, Yingze Ye, Haotian Tuo, Ping Yang, Jiabin Ding, Ye Li, Yifan Tisi, Davide Zeng, Qiyu Bao, Han Xia, Yu Huang, Jiameng Muraoka, Koki Wang, Yibo Chang, Junhan Yuan, Fengbo Bore, Sigbjørn Løland Cai, Chun Lin, Yinnian Wang, Bo Xu, Jiayan Zhu, Jia-Xin Luo, Chenxing Zhang, Yuzhi Goodall, Rhys E.A. Liang, Wenshuo Singh, Anurag Kumar Yao, Sikai Zhang, Jingchao Wentzcovitch, Renata Han, Jiequn Liu, Jie Jia, Weile York, Darrin M. Weinan, E. Car, Roberto Zhang, Linfeng Wang, Han Laboratory for Biomolecular Simulation Research Institute for Quantitative Biomedicine Department of Chemistry and Chemical Biology Rutgers University PiscatawayNJ08854 United States AI for Science Institute Beijing100080 China DP Technology Beijing100080 China Academy for Advanced Interdisciplinary Studies Peking University Beijing100871 China HEDPS CAPT College of Engineering Peking University Beijing100871 China College of Electrical and Information Engineering Hunan University Changsha China Yuanpei College Peking University Beijing100871 China Program in Applied and Computational Mathematics Princeton University PrincetonNJ08540 United States Department of Experimental Physics Comenius University Mlynská Dolina F2 Bratislava842 48 Slovakia Center for Quantum Information Institute for Interdisciplinary Information Sciences Tsinghua University Beijing100084 China Center for Data Science Peking University Beijing100871 China ByteDance Research Zhonghang Plaza No. 43 North 3rd Ring West Road Haidian District Beijing China College of Chemistry and Molecular Engineering Peking University Beijing100871 China Baidu Inc. Beijing China Key Laboratory of Structural Biology of Zhejiang Province School of Life Sciences Westlake University Zhejiang Hangzhou China Westlake AI Therapeutics Lab Westlake Laboratory of Life Sciences and Biomedicine Zhejiang Hangzhou China Department of Chemistry Princeton University PrincetonNJ08544 United States SISSA Scuola Internazionale Superiore di Studi Avanzati Trieste34136 Italy Laboratory of Computational Science and Modeling Institute of Materials École Polytechnique Fédérale de Lausanne Lausanne1015 Switzerland Department of Physics National University of Defense Technology Hunan Changsha410073 China State Key Lab of Processors Institute of Computing Technology Chinese Academy of Sciences Beijing China University of Chinese Academy of Sciences Beijing China School of Electronics Engineerin

DeePMD-kit is a powerful open-source software package that facilitates molecular dynamics simulations using machine learning potentials (MLP) known as Deep Potential (DP) models. This package, which was released in 2017, has been widely used in the fields of physics, chemistry, biology, and material science for studying atomistic systems. The current version of DeePMD-kit offers numerous advanced features such as DeepPot-SE, attention-based and hybrid descriptors, the ability to fit tensile properties, type embedding, model deviation, Deep Potential - Range Correction (DPRc), Deep Potential Long Range (DPLR), GPU support for customized operators, model compression, non-von Neumann molecular dynamics (NVNMD), and improved usability, including documentation, compiled binary packages, graphical user interfaces (GUI), and application programming interfaces (API). This article presents an overview of the current major version of the DeePMD-kit package, highlighting its features and technical details. Additionally, the article benchmarks the accuracy and efficiency of different models and discusses ongoing developments. © 2023, CC BY-NC-ND.

关键词： Molecular dynamics

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Maintaining the Quality and Aroma of Coffee with Fuzzy Logic Coffee Roasting Machine

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IOP Conference Series: Earth and Environmental science 2020年第1期426卷

作者： Harsawardana Bayu Samodro Bharuno Mahesworo Teddy Suparyanto Don Bosco Surya Atmaja Bens Pardamean Artificial Intelligence Research and Innovation Center for Agroindustry (AIRICA) Institut Pertanian STIPER Yogyakarta Indonesia 55281 Mechatronics and AI Research & Development Center Biotechnic Innovation Yogyakarta Indonesia 55281 Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program - Master of Computer Science Bina Nusantara University Jakarta Indonesia 11480

With the increasing global demands of coffee, Indonesia need to increase their coffee beans supply and improve the quality to maintain its position in the international coffee industry. One of the most important coffeepre-processing, coffee bean roasting, is under developed in Indonesia. Indonesia coffee farmers prefer to use the traditional cauldron to roast their coffee beans. Roasting coffee beans using traditional cauldron is inefficient and resulting unequal roasted level for the coffee beans. In this study, we proposed atemperature control system based on fuzzy logic for coffee roaster machine. The system controls the temperature in accordance with the demanded roasting level. A thermal camera is attached inside the roasting chamber to monitor the heaton the roasted coffee beans. The thermal camera is integrated with a stirring mechanism to equalise the heat among the beans.

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Visualizing the PHATE of neural networks

arXiv

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arXiv 2019年

作者： Gigante, Scott Krishnaswamy, Smita Charles, Adam S. Mishne, Gal Comp. Biol. Bioinf. Program Yale University New HavenCT06511 Depts. of Genetics and Computer Science Yale University New HavenCT06520 Princeton Neuroscience Institute Princeton University PrincetonNJ08544 Halıcıoglu Data Science Institute University of California San Diego San DiegoCA92093

Understanding why and how certain neural networks outperform others is key to guiding future development of network architectures and optimization methods. To this end, we introduce a novel visualization algorithm that reveals the internal geometry of such networks: Multislice PHATE (M-PHATE), the first method designed explicitly to visualize how a neural network's hidden representations of data evolve throughout the course of training. We demonstrate that our visualization provides intuitive, detailed summaries of the learning dynamics beyond simple global measures (i.e., validation loss and accuracy), without the need to access validation data. Furthermore, M-PHATE better captures both the dynamics and community structure of the hidden units as compared to visualization based on standard dimensionality reduction methods (e.g., ISOMAP, t-SNE). We demonstrate M-PHATE with two vignettes: continual learning and generalization. In the former, the M-PHATE visualizations display the mechanism of "catastrophic forgetting" which is a major challenge for learning in task-switching contexts. In the latter, our visualizations reveal how increased heterogeneity among hidden units correlates with improved generalization performance. An implementation of M-PHATE, along with scripts to reproduce the figures in this paper, is available at https://***/scottgigante/M-PHATE. Copyright © 2019, The Authors. All rights reserved.

关键词： Visualization

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Ontologizing Health Systems data at Scale: Making Translational Discovery a Reality

arXiv

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arXiv 2022年

作者： Callahan, Tiffany J. Stefanski, Adrianne L. Wyrwa, Jordan M. Zeng, Chenjie Ostropolets, Anna Banda, Juan M. Baumgartner, William A. Boyce, Richard D. Casiraghi, Elena Coleman, Ben D. Collins, Janine H. Deakyne-Davies, Sara J. Feinstein, James A. Haendel, Melissa A. Lin, Asiyah Y. Martin, Blake Matentzoglu, Nicolas A. Meeker, Daniella Reese, Justin Sinclair, Jessica Taneja, Sanya B. Trinkley, Katy E. Vasilevsky, Nicole A. Williams, Andrew Zhang, Xingman A. Denny, Joshua C. Robinson, Peter N. Ryan, Patrick Hripcsak, George Bennett, Tellen D. Hunter, Lawrence E. Kahn, Michael G. 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 Department of Physical Medicine and Rehabilitation School of Medicine University of Colorado Anschutz Medical Campus AuroraCO80045 United States National Human Genome Research Institute National Institutes of Health BethesdaMD20892 United States Department of Computer Science Georgia State University AtlantaGA30303 United States Department of Biomedical Informatics University of Pittsburgh School of Medicine PittsburghPA15260 United States Computer Science Università degli Studi di Milano Milan20122 Italy Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory BerkeleyCA94720 United States The Jackson Laboratory for Genomic Medicine FarmingtonCT06032 United States Department of Haematology University of Cambridge Cambridge United Kingdom Department of Research Informatics & Data Science Analytics Resource Center Children’s Hospital Colorado AuroraCO80045 United States University of Colorado Anschutz School of Medicine AuroraCO80045 United States Center for Health AI University of Colorado Anschutz Medical Campus AuroraCO80045 United States Departments of Biomedical Informatics and Pediatrics University of Colorado School of Medicine AuroraCO80045 United States Semanticly Athens Greece Yale School of Medicine New HavenCT06510 United States HealthLinc ValparaisoIN46383 United States Intelligent Systems Program University of Pittsburgh PittsburghPA15260 United States Department of Family Medicine University of Colorado Anschutz School of Medicine AuroraCO80045 United States Translational and Integrative Sciences Lab University of Colorado Anschutz Medical Campus AuroraCO80045 United States Tufts Institute for Clinical Research and Health Policy Studies Tufts University Bos

Background: Common data models solve many challenges of standardizing electronic health record (EHR) data, but are unable to semantically integrate all the resources needed for deep phenotyping. Open Biological and Biomedical Ontology (OBO) Foundry ontologies provide computable representations of biological knowledge and enable the integration of heterogeneous data. However, mapping EHR data to OBO ontologies requires significant manual curation and domain expertise. Objective: We introduce OMOP2OBO, an algorithm for mapping Observational Medical Outcomes Partnership (OMOP) vocabularies to OBO ontologies. Results: Using OMOP2OBO, we produced mappings for 92,367 conditions, 8611 drug ingredients, and 10,673 measurement results, which covered 68-99% of concepts used in clinical practice when examined across 24 hospitals. When used to phenotype rare disease patients, the mappings helped systematically identify undiagnosed patients who might benefit from genetic testing. Conclusions: By aligning OMOP vocabularies to OBO ontologies our algorithm presents new opportunities to advance EHR-based deep phenotyping. © 2022, CC BY.

关键词： Ontology

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