1,196 research outputs found

    The Human Phenotype Ontology in 2024: phenotypes around the world.

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    The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

    Pristup specifikaciji i generisanju proizvodnih procesa zasnovan na inženjerstvu vođenom modelima

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    In this thesis, we present an approach to the production process specification and generation based on the model-driven paradigm, with the goal to increase the flexibility of factories and respond to the challenges that emerged in the era of Industry 4.0 more efficiently. To formally specify production processes and their variations in the Industry 4.0 environment, we created a novel domain-specific modeling language, whose models are machine-readable. The created language can be used to model production processes that can be independent of any production system, enabling process models to be used in different production systems, and process models used for the specific production system. To automatically transform production process models dependent on the specific production system into instructions that are to be executed by production system resources, we created an instruction generator. Also, we created generators for different manufacturing documentation, which automatically transform production process models into manufacturing documents of different types. The proposed approach, domain-specific modeling language, and software solution contribute to introducing factories into the digital transformation process. As factories must rapidly adapt to new products and their variations in the era of Industry 4.0, production must be dynamically led and instructions must be automatically sent to factory resources, depending on products that are to be created on the shop floor. The proposed approach contributes to the creation of such a dynamic environment in contemporary factories, as it allows to automatically generate instructions from process models and send them to resources for execution. Additionally, as there are numerous different products and their variations, keeping the required manufacturing documentation up to date becomes challenging, which can be done automatically by using the proposed approach and thus significantly lower process designers' time.У овој дисертацији представљен је приступ спецификацији и генерисању производних процеса заснован на инжењерству вођеном моделима, у циљу повећања флексибилности постројења у фабрикама и ефикаснијег разрешавања изазова који се појављују у ери Индустрије 4.0. За потребе формалне спецификације производних процеса и њихових варијација у амбијенту Индустрије 4.0, креиран је нови наменски језик, чије моделе рачунар може да обради на аутоматизован начин. Креирани језик има могућност моделовања производних процеса који могу бити независни од производних система и тиме употребљени у различитим постројењима или фабрикама, али и производних процеса који су специфични за одређени систем. Како би моделе производних процеса зависних од конкретног производног система било могуће на аутоматизован начин трансформисати у инструкције које ресурси производног система извршавају, креиран је генератор инструкција. Такође су креирани и генератори техничке документације, који на аутоматизован начин трансформишу моделе производних процеса у документе различитих типова. Употребом предложеног приступа, наменског језика и софтверског решења доприноси се увођењу фабрика у процес дигиталне трансформације. Како фабрике у ери Индустрије 4.0 морају брзо да се прилагоде новим производима и њиховим варијацијама, неопходно је динамички водити производњу и на аутоматизован начин слати инструкције ресурсима у фабрици, у зависности од производа који се креирају у конкретном постројењу. Тиме што је у предложеном приступу могуће из модела процеса аутоматизовано генерисати инструкције и послати их ресурсима, доприноси се креирању једног динамичког окружења у савременим фабрикама. Додатно, услед великог броја различитих производа и њихових варијација, постаје изазовно одржавати неопходну техничку документацију, што је у предложеном приступу могуће урадити на аутоматизован начин и тиме значајно уштедети време пројектаната процеса.U ovoj disertaciji predstavljen je pristup specifikaciji i generisanju proizvodnih procesa zasnovan na inženjerstvu vođenom modelima, u cilju povećanja fleksibilnosti postrojenja u fabrikama i efikasnijeg razrešavanja izazova koji se pojavljuju u eri Industrije 4.0. Za potrebe formalne specifikacije proizvodnih procesa i njihovih varijacija u ambijentu Industrije 4.0, kreiran je novi namenski jezik, čije modele računar može da obradi na automatizovan način. Kreirani jezik ima mogućnost modelovanja proizvodnih procesa koji mogu biti nezavisni od proizvodnih sistema i time upotrebljeni u različitim postrojenjima ili fabrikama, ali i proizvodnih procesa koji su specifični za određeni sistem. Kako bi modele proizvodnih procesa zavisnih od konkretnog proizvodnog sistema bilo moguće na automatizovan način transformisati u instrukcije koje resursi proizvodnog sistema izvršavaju, kreiran je generator instrukcija. Takođe su kreirani i generatori tehničke dokumentacije, koji na automatizovan način transformišu modele proizvodnih procesa u dokumente različitih tipova. Upotrebom predloženog pristupa, namenskog jezika i softverskog rešenja doprinosi se uvođenju fabrika u proces digitalne transformacije. Kako fabrike u eri Industrije 4.0 moraju brzo da se prilagode novim proizvodima i njihovim varijacijama, neophodno je dinamički voditi proizvodnju i na automatizovan način slati instrukcije resursima u fabrici, u zavisnosti od proizvoda koji se kreiraju u konkretnom postrojenju. Time što je u predloženom pristupu moguće iz modela procesa automatizovano generisati instrukcije i poslati ih resursima, doprinosi se kreiranju jednog dinamičkog okruženja u savremenim fabrikama. Dodatno, usled velikog broja različitih proizvoda i njihovih varijacija, postaje izazovno održavati neophodnu tehničku dokumentaciju, što je u predloženom pristupu moguće uraditi na automatizovan način i time značajno uštedeti vreme projektanata procesa

    The Human Phenotype Ontology in 2024: phenotypes around the world

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    \ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

    Semantic rules for capability matchmaking in the context of manufacturing system design and reconfiguration

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    To survive in dynamic markets and meet the changing requirements, manufacturing companies must rapidly design new production systems and reconfigure existing ones. The current designer-centric search of feasible resources from various catalogues is a time-consuming and laborious process, which limits the consideration of many different alternative resource solutions. This article presents the implementation of an automatic capability matchmaking approach and software, which searches through resource catalogues to find feasible resources and resource combinations for the processing requirements of the product. The approach is based on formal ontology-based descriptions of both products and resources and the semantic rules used to find the matches. The article focuses on these rules implemented with SPIN rule language. They relate to 1) inferring and asserting parameters of combined capabilities of combined resources and 2) comparison of the product characteristics against the capability parameters of the resource (combination). The presented case study proves that the matchmaking system can find feasible matches. However, a human designer must validate the result when making the final resource selection. The approach should speed up the system design and reconfiguration planning and allow more alternative solutions be considered, compared with traditional manual design approaches.publishedVersionPeer reviewe

    Microcredentials to support PBL

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    Mechanisms of intermediary platforms

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    Current issues of the management of socio-economic systems in terms of globalization challenges

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    The authors of the scientific monograph have come to the conclusion that the management of socio-economic systems in the terms of global challenges requires the use of mechanisms to ensure security, optimise the use of resource potential, increase competitiveness, and provide state support to economic entities. Basic research focuses on assessment of economic entities in the terms of global challenges, analysis of the financial system, migration flows, logistics and product exports, territorial development. The research results have been implemented in the different decision-making models in the context of global challenges, strategic planning, financial and food security, education management, information technology and innovation. The results of the study can be used in the developing of directions, programmes and strategies for sustainable development of economic entities and regions, increasing the competitiveness of products and services, decision-making at the level of ministries and agencies that regulate the processes of managing socio-economic systems. The results can also be used by students and young scientists in the educational process and conducting scientific research on the management of socio-economic systems in the terms of global challenges

    Perceptions and Practicalities for Private Machine Learning

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    data they and their partners hold while maintaining data subjects' privacy. In this thesis I show that private computation, such as private machine learning, can increase end-users' acceptance of data sharing practices, but not unconditionally. There are many factors that influence end-users' privacy perceptions in this space; including the number of organizations involved and the reciprocity of any data sharing practices. End-users emphasized the importance of detailing the purpose of a computation and clarifying that inputs to private computation are not shared across organizations. End-users also struggled with the notion of protections not being guaranteed 100\%, such as in statistical based schemes, thus demonstrating a need for a thorough understanding of the risk form attacks in such applications. When training a machine learning model on private data, it is critical to understand the conditions under which that data can be protected; and when it cannot. For instance, membership inference attacks aim to violate privacy protections by determining whether specific data was used to train a particular machine learning model. Further, the successful transition of private machine learning theoretical research to practical use must account for gaps in achieving these properties that arise due to the realities of concrete implementations, threat models, and use cases; which is not currently the case

    Digital agriculture: research, development and innovation in production chains.

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    Digital transformation in the field towards sustainable and smart agriculture. Digital agriculture: definitions and technologies. Agroenvironmental modeling and the digital transformation of agriculture. Geotechnologies in digital agriculture. Scientific computing in agriculture. Computer vision applied to agriculture. Technologies developed in precision agriculture. Information engineering: contributions to digital agriculture. DIPN: a dictionary of the internal proteins nanoenvironments and their potential for transformation into agricultural assets. Applications of bioinformatics in agriculture. Genomics applied to climate change: biotechnology for digital agriculture. Innovation ecosystem in agriculture: Embrapa?s evolution and contributions. The law related to the digitization of agriculture. Innovating communication in the age of digital agriculture. Driving forces for Brazilian agriculture in the next decade: implications for digital agriculture. Challenges, trends and opportunities in digital agriculture in Brazil

    Intelligent interface agents for biometric applications

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    This thesis investigates the benefits of applying the intelligent agent paradigm to biometric identity verification systems. Multimodal biometric systems, despite their additional complexity, hold the promise of providing a higher degree of accuracy and robustness. Multimodal biometric systems are examined in this work leading to the design and implementation of a novel distributed multi-modal identity verification system based on an intelligent agent framework. User interface design issues are also important in the domain of biometric systems and present an exceptional opportunity for employing adaptive interface agents. Through the use of such interface agents, system performance may be improved, leading to an increase in recognition rates over a non-adaptive system while producing a more robust and agreeable user experience. The investigation of such adaptive systems has been a focus of the work reported in this thesis. The research presented in this thesis is divided into two main parts. Firstly, the design, development and testing of a novel distributed multi-modal authentication system employing intelligent agents is presented. The second part details design and implementation of an adaptive interface layer based on interface agent technology and demonstrates its integration with a commercial fingerprint recognition system. The performance of these systems is then evaluated using databases of biometric samples gathered during the research. The results obtained from the experimental evaluation of the multi-modal system demonstrated a clear improvement in the accuracy of the system compared to a unimodal biometric approach. The adoption of the intelligent agent architecture at the interface level resulted in a system where false reject rates were reduced when compared to a system that did not employ an intelligent interface. The results obtained from both systems clearly express the benefits of combining an intelligent agent framework with a biometric system to provide a more robust and flexible application
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