Search results for: gene ontology

Authors: Alicia Y. C. Tang, Rukaini Hj. Abdullah, Sharifuddin M. Zain

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This paper discusses the development of a qualitative simulator (abbreviated QRiOM) for predicting the behaviour of organic chemical reactions. The simulation technique is based on the qualitative process theory (QPT) ontology. The modelling constructs of QPT embody notions of causality which can be used to explain the behaviour of a chemical system. The major theme of this work is that, in a qualitative simulation environment, students are able to articulate his/her knowledge through the inspection of explanations generated by software. The implementation languages are Java and Prolog. The software produces explanation in various forms that stresses on the causal theories in the chemical system which can be effectively used to support learning.

Keywords: Chemical reactions, explanation, qualitative processtheory, simulation

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Authors: B. B. Rana, M. Yokota, Y. Shimizu, Y. Koide, I. Takamure, T. Kawano, M. Murai

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Various genes which control or affect heading time have been found in rice. Out of them, Se1 and E1 loci play important roles in determining heading time by controlling photosensitivity. An isogenic-line pair of late and early lines were developed from progenies of the F₁ from Suweon 258 × 36U. A lateness gene tentatively designated as “Ex” was found to control the difference in heading time between the early and late lines mentioned above. The present study was conducted to examine the effect of Ex on yield and related traits. Indica-type variety Suweon 258 was crossed with 36U, which is an Ur1 (Undulate rachis-1) isogenic line of IR36. In the F₂ population, comparatively early-heading, late-heading and intermediate-heading plants were segregated. Segregation similar to that by the three types of heading was observed in the F₃ and later generations. A late-heading plant and an early-heading plant were selected in the F₈ population from an intermediate-heading F₇ plant, for developing L and E of the isogenic-line pair, respectively. Experiments for L and E were conducted by randomized block design with three replications. Transplanting was conducted on May 3 at a planting distance of 30 cm × 15 cm with two seedlings per hill to an experimental field of the Faculty of Agriculture, Kochi University. Chemical fertilizers containing N, P₂O₅ and K₂O were applied at the nitrogen levels of 4 g/m², 9 g/m² and 18 g/m² in total being denoted by "N4", "N9" and "N18", respectively. Yield, yield components and other traits were measured. Ex delayed 80%-heading by 17 or 18 days in L as compared with E. In total brown rice yield (g/m²), L was 635, 606 and 590, and E was 577, 548 and 501, respectively, at N18, N9 and N4, indicating that Ex increased this trait by 10% to 18%. Ex increased yield-1.5 mm sieve (g/m²) b 9% to 15% at the three fertilizer levels. Ex increased the spikelet number per panicle by 16% to 22%. As a result, the spikelet number per m² was increased by 11% to 18% at the three fertilizer levels. Ex decreased 1000-grain weight (g) by 2 to 4%. L was not significantly different from E in ripened-grain percentage, fertilized-spikelet percentage and percentage of ripened grains to fertilized spikelets. Hence, it is inferred that Ex increased yield by increasing spikelet number per panicle. Hence, Ex could be utilized to develop high yielding varieties for warmer districts.

Keywords: Heading time, lateness gene, photosensitivity, rice, yield, yield components.

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Authors: Rozhgar A. Khailany, Mehri Igci, Emine Bayraktar, Sakip Erturhan, Metin Karakok, Ahmet Arslan

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Kidney cancer is the most lethal urological cancer accounting for 3% of adult malignancies. VHL, a tumor-suppressor gene, is best known to be associated with renal cell carcinoma (RCC). The VHL functions as negative regulator of hypoxia inducible factors. Recent sequencing efforts have identified several novel frequent mutations of histone modifying and chromatin remodeling genes in ccRCC (clear cell RCC) including PBRM1 and SETD2. The PBRM1 gene encodes the BAF180 protein, which involved in transcriptional activation and repression of selected genes. SETD2 encodes a histone methyltransferase, which may play a role in suppressing tumor development. In this study, RNAs of 30 paired tumor and normal samples that were grouped according to the types of kidney cancer and clinical characteristics of patients, including gender and average age were examined by RT-PCR, SSCP and sequencing techniques. VHL, PBRM1 and SETD2 expressions were relatively down-regulated. However, statistically no significance was found (Wilcoxon signed rank test, p>0.05). Interestingly, no mutation was observed on the contrary of previous studies. Understanding the molecular mechanisms involved in the pathogenesis of RCC has aided the development of molecular-targeted drugs for kidney cancer. Further analysis is required to identify the responsible genes rather than VHL, PBRM1 and SETD2 in kidney cancer.

Keywords: Kidney cancer, molecular biomarker, expression analysis, mutation screening.

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Authors: Ricardo Avila, Gabriel Lopes, Vania Vidal, Jose Macedo

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This proposal aims for semantic enrichment between glossaries using the Simple Knowledge Organization System (SKOS) vocabulary to discover synonyms, hyponyms and hyperonyms semiautomatically, in Brazilian Portuguese, generating new semantic relationships based on WordNet. To evaluate the quality of this proposed model, experiments were performed by the use of two sets containing new relations, being one generated automatically and the other manually mapped by the domain expert. The applied evaluation metrics were precision, recall, f-score, and confidence interval. The results obtained demonstrate that the applied method in the field of Oil Production and Extraction (E&P) is effective, which suggests that it can be used to improve the quality of terminological mappings. The procedure, although adding complexity in its elaboration, can be reproduced in others domains.

Keywords: Ontology matching, mapping enrichment, semantic web, linked data, SKOS.

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Authors: Ivan Stanev, Maria Koleva

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Common Platform for Automated Programming (CPAP) is defined in details. Two versions of CPAP are described: Cloud based (including set of components for classic programming, and set of components for combined programming); and Knowledge Based Automated Software Engineering (KBASE) based (including set of components for automated programming, and set of components for ontology programming). Four KBASE products (Module for Automated Programming of Robots, Intelligent Product Manual, Intelligent Document Display, and Intelligent Form Generator) are analyzed and CPAP contributions to automated programming are presented.

Keywords: Automated Programming, Cloud Computing, Knowledge Based Software Engineering, Service Oriented Architecture.

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Authors: Mohammadsadegh Zanganehfar

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Through the emergence of modern architecture, an aggressive desire for new design theories appeared through the works of architects and critics. The discourse of complexity and volumetric composition happened to be an important and controversial issue in the discipline of architecture which was discussed through a general point of view in Robert Venturi and Denise Scott Brown's book “Complexity and contradiction in architecture” in 1966, this paper attempts to identify chaos theory as a scientific model of complexity and its relation to architecture design theory by conducting a qualitative analysis and multidisciplinary critical approach through architecture and basic sciences resources. Accordingly, we identify chaotic architecture as the correlation between chaos theory and the discipline of architecture, and as an independent nonlinear design theory with specific characteristics and properties.

Keywords: Architecture complexity, chaos theory, fractals, nonlinear dynamic systems, nonlinear ontology.

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Authors: Manolo Dulva Hina, Clement Thierry, Assia Soukane, Amar Ramdane-Cherif

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In this paper, we presented our innovative way of determining the driving context for a driving assistance system. We invoke the fusion of all parameters that describe the context of the environment, the vehicle and the driver to obtain the driving context. We created a training set that stores driving situation patterns and from which the system consults to determine the driving situation. A machine-learning algorithm predicts the driving situation. The driving situation is an input to the fission process that yields the action that must be implemented when the driver needs to be informed or assisted from the given the driving situation. The action may be directed towards the driver, the vehicle or both. This is an ongoing work whose goal is to offer an alternative driving assistance system for safe driving, green driving and comfortable driving. Here, ontologies are used for knowledge representation.

Keywords: Cognitive driving, intelligent transportation system, multimodal system, ontology, machine learning.

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Authors: Huynh Quyet Thang, Vo Sy Nam

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Schema matching plays a key role in many different applications, such as schema integration, data integration, data warehousing, data transformation, E-commerce, peer-to-peer data management, ontology matching and integration, semantic Web, semantic query processing, etc. Manual matching is expensive and error-prone, so it is therefore important to develop techniques to automate the schema matching process. In this paper, we present a solution for XML schema automated matching problem which produces semantic mappings between corresponding schema elements of given source and target schemas. This solution contributed in solving more comprehensively and efficiently XML schema automated matching problem. Our solution based on combining linguistic similarity, data type compatibility and structural similarity of XML schema elements. After describing our solution, we present experimental results that demonstrate the effectiveness of this approach.

Keywords: XML Schema, Schema Matching, SemanticMatching, Automatic XML Schema Matching.

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Authors: Fereshteh Shacheraghi, Mohammad Reza Shakibaie, Hanieh Noveiri

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Fourty one strains of ESBL producing P.aeruginosa which were previously isolated from burn patients in Kerman University general hospital, Iran were subjected to PCR, RFLP and sequencing in order to determine the type of extended spectrum β- lactamases (ESBL), the restriction digestion pattern and possibility of mutation among detected genes. DNA extraction was carried out by phenol chloroform method. PCR for detection of bla genes was performed using specific primer for each gene. Restriction Fragment Length Polymorphism (RFLP) for ESBL genes was carried out using EcoRI, NheI, PVUII, EcoRV, DdeI, and PstI restriction enzymes. The PCR products were subjected to direct sequencing of both the strands for identification of the ESBL genes.The blaCTX-M, blaVEB-1, blaPER-1, blaGES-1, blaOXA-1, blaOXA-4 and blaOXA-10 genes were detected in the (n=1) 2.43%, (n=41)100%, (n=28) 68.3%, (n=10) 24.4%, (n=29) 70.7%, (n=7)17.1% and (n=38) 92.7% of the ESBL producing isolates respectively. The RFLP analysis showed that each ESBL gene has identical pattern of digestion among the isolated strains. Sequencing of the ESBL genes confirmed the genuinety of PCR products and revealed no mutation in the restriction sites of the above genes. From results of the present investigation it can be concluded that blaVEB-1 and blaCTX-M were the most and the least frequently isolated ESBL genes among the P.aeruginosa strains isolated from burn patients. The RFLP and sequencing analysis revealed that same clone of the bla genes were indeed existed among the antibiotic resistant strains.

Keywords: ESBL genes, PCR, RFLP, Sequencing, P.aeruginosa

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Authors: Hendry Muljadi, Hideaki Takeda, Koichi Ando

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A manufacturing feature can be defined simply as a geometric shape and its manufacturing information to create the shape. In a feature-based process planning system, feature library that consists of pre-defined manufacturing features and the manufacturing information to create the shape of the features, plays an important role in the extraction of manufacturing features with their proper manufacturing information. However, to manage the manufacturing information flexibly, it is important to build a feature library that can be easily modified. In this paper, the implementation of Semantic Wiki for the development of the feature library is proposed.

Keywords: Manufacturing feature, feature library, feature ontology, process planning, Wiki, MediaWiki, Semantic Wiki.

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Authors: Eleftheria Tzamali, Panayiota Poirazi, Ioannis G. Tollis, Martin Reczko

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Stable bacterial polymorphism on a single limiting resource may appear if between the evolved strains metabolic interactions take place that allow the exchange of essential nutrients [8]. Towards an attempt to predict the possible outcome of longrunning evolution experiments, a network based on the metabolic capabilities of homogeneous populations of every single gene knockout strain (nodes) of the bacterium E. coli is reconstructed. Potential metabolic interactions (edges) are allowed only between strains of different metabolic capabilities. Bacterial communities are determined by finding cliques in this network. Growth of the emerged hypothetical bacterial communities is simulated by extending the metabolic flux balance analysis model of Varma et al [2] to embody heterogeneous cell population growth in a mutual environment. Results from aerobic growth on 10 different carbon sources are presented. The upper bounds of the diversity that can emerge from single-cloned populations of E. coli such as the number of strains that appears to metabolically differ from most strains (highly connected nodes), the maximum clique size as well as the number of all the possible communities are determined. Certain single gene deletions are identified to consistently participate in our hypothetical bacterial communities under most environmental conditions implying a pattern of growth-condition- invariant strains with similar metabolic effects. Moreover, evaluation of all the hypothetical bacterial communities under growth on pyruvate reveals heterogeneous populations that can exhibit superior growth performance when compared to the performance of the homogeneous wild-type population.

Keywords: Bacterial polymorphism, clique identification, dynamic FBA, evolution, metabolic interactions.

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Authors: Yifan Fan, Xudong Luo, Pingping Lin

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An essential task in the field of artificial intelligence is to allow computers to interact with people through natural language. Therefore, researches such as virtual assistants and dialogue systems have received widespread attention from industry and academia. The response generation plays a crucial role in dialogue systems, so to push forward the research on this topic, this paper surveys various methods for response generation. We sort out these methods into three categories. First one includes finite state machine methods, framework methods, and instance methods. The second contains full-text indexing methods, ontology methods, vast knowledge base method, and some other methods. The third covers retrieval methods and generative methods. We also discuss some hybrid methods based knowledge and deep learning. We compare their disadvantages and advantages and point out in which ways these studies can be improved further. Our discussion covers some studies published in leading conferences such as IJCAI and AAAI in recent years.

Keywords: Retrieval, generative, deep learning, response generation, knowledge.

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Authors: S. M. M. Syairah, M. H. Rajikin, A-R. Sharaniza

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Several embryonic cellular mechanism including cell cycle, growth and apoptosis are regulated by phosphatidylinositol-3- kinase (PI3K)/Akt signaling pathway. The goal of present study is to determine the effects of annatto (Bixa orellana)-derived δ-tocotrienol (δ-TCT) on the regulations of PI3K/Akt genes in murine morula. Twenty four 6-8 week old (23-25g) female balb/c mice were randomly divided into four groups (G1-G4; n=6). Those groups were subjected to the following treatments for 7 consecutive days: G1 (control) received tocopherol stripped corn oil, G2 was given 60 mg/kg/day of δ-TCT mixture (contains 90% delta & 10% gamma isomers), G3 was given 60 mg/kg/day of pure δ-TCT (>98% purity) and G4 received 60 mg/kg/day α-TOC. On Day 8, females were superovulated with 5 IU Pregnant Mare’s Serum Gonadotropin (PMSG) for 48 hours followed with 5 IU human Chorionic Gonadotropin (hCG) before mated with males at the ratio of 1:1. Females were sacrificed by cervical dislocation for embryo collection 48 hours post-coitum. About fifty morulas from each group were used in the gene expression analyses using Affymetrix QuantiGene Plex 2.0 Assay. Present data showed a significant increase (p<0.05) in the average number (mean + SEM) of morula produced in G2 (27.32 + 0.23), G3 (25.42 + 0.21) and G4 (27.21 + 0.34) compared to control group (G1 – 14.61 + 0.25). This is parallel with the high expression of PDK1 gene with increase of 2.75-fold (G2), 3.07-fold (G3) and 3.59-fold (G4) compared to G1. From the present data, it can be concluded that supplementation with δ-TCT(s) and α-TOC induced high expression of PDK1 in G2-G4 which enhanced the PI3K/Akt signaling activity, resulting in the increased number of morula.

Keywords: Embryonic development, morula, nicotine, vitamin E.

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Authors: Salima Behdenna, Fatiha Barigou, Ghalem Belalem

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Due to the quick increase in the volume of Arabic opinions posted on various social media, Arabic sentiment analysis has become one of the most important areas of research. Compared to English, there is very little works on Arabic sentiment analysis, in particular aspect-based sentiment analysis (ABSA). In ABSA, aspect extraction is the most important task. In this paper, we propose a semantic ABSA approach for standard Arabic reviews to extract explicit aspect terms and identify the polarity of the extracted aspects. The proposed approach was evaluated using HAAD datasets. Experiments showed that the proposed approach achieved a good level of performance compared with baseline results. The F-measure was improved by 19% for the aspect term extraction tasks and 55% aspect term polarity task.

Keywords: Sentiment analysis, opinion mining, Arabic, aspect level, opinion, polarity.

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Authors: Dhanashree Nansaheb Kharde, Justus Selwyn

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These days customer satisfaction plays vital role in any business. When customer searches for a product, significantly a junk of irrelevant information is what is given, leading to customer dissatisfaction. To provide exactly relevant information on the searched product, we are proposing a model of KaaS (Knowledge as a Service), which pre-processes the information using decision making paradigm using Multi-agents. Information obtained from various sources is taken to derive knowledge and they are linked to Cloud to capture new idea. The main focus of this work is to acquire relevant information (knowledge) related to product, then convert this knowledge into a service for customer satisfaction and deploy on cloud. For achieving these objectives we are have opted to use multi agents. They are communicating and interacting with each other, manipulate information, provide knowledge, to take decisions. The paper discusses about KaaS as an intelligent approach for Knowledge acquisition.

Keywords: Knowledge acquisition, multi-agents, intelligent user interface, ontology, intelligent agent.

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Authors: Hafizullah A. Hashim, Aniza. A

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The Spiral development model has been used successfully in many commercial systems and in a good number of defense systems. This is due to the fact that cost-effective incremental commitment of funds, via an analogy of the spiral model to stud poker and also can be used to develop hardware or integrate software, hardware, and systems. To support adaptive, semantic collaboration between domain experts and knowledge engineers, a new knowledge engineering process, called Spiral_OWL is proposed. This model is based on the idea of iterative refinement, annotation and structuring of knowledge base. The Spiral_OWL model is generated base on spiral model and knowledge engineering methodology. A central paradigm for Spiral_OWL model is the concentration on risk-driven determination of knowledge engineering process. The collaboration aspect comes into play during knowledge acquisition and knowledge validation phase. Design rationales for the Spiral_OWL model are to be easy-to-implement, well-organized, and iterative development cycle as an expanding spiral.

Keywords: Domain Expert, Knowledge Base, Ontology, Software Process.

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Authors: Enrico Rukzio, George N. Prezerakos, Giovanni Cortese, Eleftherios Koutsoloukas, Sofia Kapellaki

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The paper focuses on the area of context modeling with respect to the specification of context-aware systems supporting ubiquitous applications. The proposed approach, followed within the SIMPLICITY IST project, uses a high-level system ontology to derive context models for system components which consequently are mapped to the system's physical entities. For the definition of user and device-related context models in particular, the paper suggests a standard-based process consisting of an analysis phase using the Common Information Model (CIM) methodology followed by an implementation phase that defines 3GPP based components. The benefits of this approach are further depicted by preliminary examples of XML grammars defining profiles and components, component instances, coupled with descriptions of respective ubiquitous applications.

Keywords: 3GPP, context, context-awareness, context model, information model, user model, XML

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Authors: M. Matash Borujerdi, S.M. Mirzababaei

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As computer network technology becomes increasingly complex, it becomes necessary to place greater requirements on the validity of developing standards and the resulting technology. Communication networks are based on large amounts of protocols. The validity of these protocols have to be proved either individually or in an integral fashion. One strategy for achieving this is to apply the growing field of formal methods. Formal methods research defines systems in high order logic so that automated reasoning can be applied for verification. In this research we represent and implement a formerly announced multicast protocol in Prolog language so that certain properties of the protocol can be verified. It is shown that by using this approach some minor faults in the protocol were found and repaired. Describing the protocol as facts and rules also have other benefits i.e. leads to a process-able knowledge. This knowledge can be transferred as ontology between systems in KQML format. Since the Prolog language can increase its knowledge base every time, this method can also be used to learn an intelligent network.

Keywords: Formal methods, MobiCast, Mobile Network, Multicast.

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Authors: Choon Ling Sia, Yani Shi, Jiaqi Yan, Huaping Chen

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With the development of the Internet, E-commerce is growing at an exponential rate, and lots of online stores are built up to sell their goods online. A major factor influencing the successful adoption of E-commerce is consumer-s trust. For new or unknown Internet business, consumers- lack of trust has been cited as a major barrier to its proliferation. As web sites provide key interface for consumer use of E-Commerce, we investigate the design of web site to build trust in E-Commerce from a design science approach. A conceptual model is proposed in this paper to describe the ontology of online transaction and human-computer interaction. Based on this conceptual model, we provide a personalized webpage design approach using Bayesian networks learning method. Experimental evaluation are designed to show the effectiveness of web personalization in improving consumer-s trust in new or unknown online store.

Keywords: Trust, Web site design, Human-ComputerInteraction, E-Commerce, Design science, Bayesian network.

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Authors: Chi-Lun Liu

Abstract:

Requirements modeling and analysis are important in successful information systems' maintenance. Unified Modeling Language (UML) class diagrams are useful standards for modeling information systems. To our best knowledge, there is a lack of a systems development methodology described by the organism metaphor. The core concept of this metaphor is adaptation. Using the knowledge representation and reasoning approach and ontologies to adopt new requirements are emergent in recent years. This paper proposes an organic methodology which is based on constructivism theory. This methodology is a knowledge representation and reasoning approach to analyze new requirements in the class diagrams maintenance. The process and rules in the proposed methodology automatically analyze inconsistencies in the class diagram. In the big data era, developing an automatic tool based on the proposed methodology to analyze large amounts of class diagram data is an important research topic in the future.

Keywords: Knowledge representation, reasoning, ontology, class diagram, software engineering.

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Authors: Aliyu Isah Agaie, Masrah Azrifah Azmi Murad, Nurfadhlina Mohd Sharef, Aida Mustapha

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Natural Language Interfaces typically support a restricted language and also have scopes and limitations that naïve users are unaware of, resulting in errors when the users attempt to retrieve information from ontologies. To overcome this challenge, an auto-suggest feature is introduced into the querying process where users are guided through the querying process using interactive query construction system. Guiding users to formulate their queries, while providing them with an unconstrained (or almost unconstrained) way to query the ontology results in better interpretation of the query and ultimately lead to an effective search. The approach described in this paper is unobtrusive and subtly guides the users, so that they have a choice of either selecting from the suggestion list or typing in full. The user is not coerced into accepting system suggestions and can express himself using fragments or full sentences.

Keywords: Auto-suggest, expressiveness, habitability, natural language interface, query interpretation, user guidance.

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Authors: K. Nikovics, D. Riccobono, M. Oger, H. Morin, L. Barbier, T. Poyot, X. Holy, A. Bendahmane, M. Drouet, A. L. Favier

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Muscle regeneration after injury (as irradiation) is of great importance. However, the molecular and cellular mechanisms are still unclear. Cytokines are believed to play fundamental role in the different stages of muscle regeneration. They are secreted by many cell populations, but the predominant producers are macrophages and helper T cells. On the other hand, it has been shown that adipose tissue derived stromal/stem cell (ASC) injection could improve muscle regeneration. Stem cells probably induce the coordinated modulations of gene expression in different macrophage cells. Therefore, we investigated the patterns and timing of changes in gene expression of different cytokines occurring upon stem cells loading. Muscle regeneration was studied in an irradiated muscle of minipig animal model in presence or absence of ASC treatment (irradiated and treated with ASCs, IRR+ASC; irradiated not-treated with ASCs, IRR; and non-irradiated no-IRR). We characterized macrophage populations by immunolabeling in the different conditions. In our study, we found mostly M2 and a few M1 macrophages in the IRR+ASC samples. However, only few M2b macrophages were noticed in the IRR muscles. In addition, we found intensive fibrosis in the IRR samples. With in situ hybridization and immunolabeling, we analyzed the cytokine expression of the different macrophages and we showed that M2d macrophage are the most abundant in the IRR+ASC samples. By in situ hybridization, strong expression of the transforming growth factor β (TGF-β) was observed in the IRR+ASC but very week in the IRR samples. But when we analyzed TGF-β level with immunolabeling the expression was very different: many M2 macrophages showed week expression in IRR+ASC and few cells expressing stronger level in IRR muscles. Therefore, we investigated the MMP expressions in the different muscles. Our data showed that the M2 macrophages of the IRR+ASC muscle expressed MMP2 proteins. Our working hypothesis is that MMP2 expression of the M2 macrophages can decrease fibrosis in the IRR+ASC muscle by capturing TGF-β.

Keywords: Adipose tissue derived stromal/stem cell, cytokine, macrophage, muscle regeneration.

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Authors: Alicia Y. C. Tang, Rukaini Abdullah, Sharifuddin M. Zain, Noorsaadah A. Rahman

Abstract:

This paper discusses the causal explanation capability of QRIOM, a tool aimed at supporting learning of organic chemistry reactions. The development of the tool is based on the hybrid use of Qualitative Reasoning (QR) technique and Qualitative Process Theory (QPT) ontology. Our simulation combines symbolic, qualitative description of relations with quantity analysis to generate causal graphs. The pedagogy embedded in the simulator is to both simulate and explain organic reactions. Qualitative reasoning through a causal chain will be presented to explain the overall changes made on the substrate; from initial substrate until the production of final outputs. Several uses of the QPT modeling constructs in supporting behavioral and causal explanation during run-time will also be demonstrated. Explaining organic reactions through causal graph trace can help improve the reasoning ability of learners in that their conceptual understanding of the subject is nurtured.

Keywords: Qualitative reasoning, causal graph, organicreactions, explanation, QPT, modeling constructs.

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Authors: Surajit Debnath, Soma Addya

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Human genome is not only the evolutionary summation of all advantageous events, but also houses lesions of deleterious foot prints. A single gene mutation sometimes may express multiple consequences in numerous tissues and a linear relationship of the genotype and the phenotype may often be obscure. ß Thalassemia minor, a transfusion independent mild anaemia, coupled with environment among other factors may articulate into phenotypic pleotropy with Hypocholesterolemia, Vitamin D deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological alterations. Occurrence of Pancreatic insufficiency, resultant steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2 4.60% and Hb Adult 84.80% and altered Hemogram) with increased Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2 (9.5mg/ml) indicate towards a cascade of phenotypic pleotropy where the ß Thalassemia mutation ,be it in the 5’ cap site of the mRNA , differential splicing etc in heterozygous state is effecting several metabolic pathways. Compensatory extramedulary hematopoiesis may not coped up well with the stressful life style of the young individual and increased erythropoietic stress with high demand for cholesterol for RBC membrane synthesis may have resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia may have caused the pancreatic insufficiency, leading to Vitamin D deficiency. This may in turn have caused the secondary hyperparathyroidism to sustain serum Calcium level. Irritability and stress intolerance of the patient was a cumulative effect of the vicious cycle of metabolic compromises. From these findings we propose that the metabolic deficiencies in the ß Thalassemia mutations may be considered as the phenotypic display of the pleotropy to explain the genetic epidemiology. According to the recommendations from the NIH Workshop on Gene-Environment Interplay in Common Complex Diseases: Forging an Integrative Model, study design of observations should be informed by gene-environment hypotheses and results of a study (genetic diseases) should be published to inform future hypotheses. Variety of approaches is needed to capture data on all possible aspects, each of which is likely to contribute to the etiology of disease. Speakers also agreed that there is a need for development of new statistical methods and measurement tools to appraise information that may be missed out by conventional method where large sample size is needed to segregate considerable effect. A meta analytic cohort study in future may bring about significant insight on to the title comment.

Keywords: Genetic disease, Genetic epidemiology, Heterozygous, Phenotype, Pleotropy, ß Thalassemia minor, Metabolic compromises.

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Authors: Yingqi Cui, Changran Huang, Raymond Lee

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In this paper, we proposed an AI Tutor using ontology and natural language process techniques to generate a computer science domain knowledge graph and answer users’ questions based on the knowledge graph. We define eight types of relation to extract relationships between entities according to the computer science domain text. The AI tutor is separated into two agents: learning agent and Question-Answer (QA) agent and developed on JADE (a multi-agent system) platform. The learning agent is responsible for reading text to extract information and generate a corresponding knowledge graph by defined patterns. The QA agent can understand the users’ questions and answer humans’ questions based on the knowledge graph generated by the learning agent.

Keywords: Artificial intelligence, natural language process, knowledge graph, agent, QA system.

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Authors: Chakkrit Snae, Michael Brueckner

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In this paper the authors present the framework of a system for assisting users through counseling on personal health, the Personal Health Assistance Service Expert System (PHASES). Personal health assistance systems need Personal Health Records (PHR), which support wellness activities, improve the understanding of personal health issues, enable access to data from providers of health services, strengthen health promotion, and in the end improve the health of the population. This is especially important in societies where the health costs increase at a higher rate than the overall economy. The most important elements of a healthy lifestyle are related to food (such as balanced nutrition and diets), activities for body fitness (such as walking, sports, fitness programs), and other medical treatments (such as massage, prescriptions of drugs). The PHASES framework uses an ontology of food, which includes nutritional facts, an expert system keeping track of personal health data that are matched with medical treatments, and a comprehensive data transfer between patients and the system.

Keywords: Personal health assistance service, expert system, ontologies, knowledge management, information technology.

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Authors: Assel S. Issabekova, Olga A. Berillo, Vladimir A. Khailenko, Shara A. Atambayeva, Mireille Regnier, Anatoly T. Ivachshenko

Abstract:

Regulatory relationships of 686 intronic miRNA and 784 intergenic miRNAs with mRNAs of 51 intronic miRNA coding genes were established. Interaction features of studied miRNAs with 5'UTR, CDS and 3'UTR of mRNA of each gene were revealed. Functional regions of mRNA were shown to be significantly heterogenous according to the number of binding sites of miRNA and to the location density of these sites.

Keywords: 5'UTR, 3'UTR, CDS, miRNA, target mRNA

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Authors: Nadezhda M. Usmanova, Nikolai V. Tomilin

Abstract:

Mammalian genomes contain large number of retroelements (SINEs, LINEs and LTRs) which could affect expression of protein coding genes through associated transcription factor binding sites (TFBS). Activity of the retroelement-associated TFBS in many genes is confirmed experimentally but their global functional impact remains unclear. Human SINEs (Alu repeats) and mouse SINEs (B1 and B2 repeats) are known to be clustered in GCrich gene rich genome segments consistent with the view that they can contribute to regulation of gene expression. We have shown earlier that Alu are involved in formation of cis-regulatory modules (clusters of TFBS) in human promoters, and other authors reported that Alu located near promoter CpG islands have an increased frequency of CpG dinucleotides suggesting that these Alu are undermethylated. Human Alu and mouse B1/B2 elements have an internal bipartite promoter for RNA polymerase III containing conserved sequence motif called B-box which can bind basal transcription complex TFIIIC. It has been recently shown that TFIIIC binding to B-box leads to formation of a boundary which limits spread of repressive chromatin modifications in S. pombe. SINEassociated B-boxes may have similar function but conservation of TFIIIC binding sites in SINEs located near mammalian promoters has not been studied earlier. Here we analysed abundance and distribution of retroelements (SINEs, LINEs and LTRs) in annotated sequences of the Database of mammalian transcription start sites (DBTSS). Fractions of SINEs in human and mouse promoters are slightly lower than in all genome but >40% of human and mouse promoters contain Alu or B1/B2 elements within -1000 to +200 bp interval relative to transcription start site (TSS). Most of these SINEs is associated with distal segments of promoters (-1000 to -200 bp relative to TSS) indicating that their insertion at distances >200 bp upstream of TSS is tolerated during evolution. Distribution of SINEs in promoters correlates negatively with the distribution of CpG sequences. Using analysis of abundance of 12-mer motifs from the B1 and Alu consensus sequences in genome and DBTSS it has been confirmed that some subsegments of Alu and B1 elements are poorly conserved which depends in part on the presence of CpG dinucleotides. One of these CpG-containing subsegments in B1 elements overlaps with SINE-associated B-box and it shows better conservation in DBTSS compared to genomic sequences. It has been also studied conservation in DBTSS and genome of the B-box containing segments of old (AluJ, AluS) and young (AluY) Alu repeats and found that CpG sequence of the B-box of old Alu is better conserved in DBTSS than in genome. This indicates that Bbox- associated CpGs in promoters are better protected from methylation and mutation than B-box-associated CpGs in genomic SINEs. These results are consistent with the view that potential TFIIIC binding motifs in SINEs associated with human and mouse promoters may be functionally important. These motifs may protect promoters from repressive histone modifications which spread from adjacent sequences. This can potentially explain well known clustering of SINEs in GC-rich gene rich genome compartments and existence of unmethylated CpG islands.

Keywords: Retroelement, promoter, CpG island, DNAmethylation.

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Authors: Smain M. Bekhti, Nada T. Matta

Abstract:

Knowledge sharing in general and the contextual access to knowledge in particular, still represent a key challenge in the knowledge management framework. Researchers on semantic web and human machine interface study techniques to enhance this access. For instance, in semantic web, the information retrieval is based on domain ontology. In human machine interface, keeping track of user's activity provides some elements of the context that can guide the access to information. We suggest an approach based on these two key guidelines, whilst avoiding some of their weaknesses. The approach permits a representation of both the context and the design rationale of a project for an efficient access to knowledge. In fact, the method consists of an information retrieval environment that, in the one hand, can infer knowledge, modeled as a semantic network, and on the other hand, is based on the context and the objectives of a specific activity (the design). The environment we defined can also be used to gather similar project elements in order to build classifications of tasks, problems, arguments, etc. produced in a company. These classifications can show the evolution of design strategies in the company.

Keywords: Project Memory, Knowledge re-use, Design rationale, Knowledge representation.

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Authors: S. Banerjee, A. Apte Deshpande, N. Mandi, S. Padmanabhan

Abstract:

We report a novel fusion tag for expressing recombinant proteins in E. coli. The fusion tag is the C-terminus part of the human GMCSF gene comprising 45 amino acids, which aid in over expression of otherwise non expressible genes. Expression of hIFN a2b with this fusion tag also escapes the requirement of rare codons for expression. This is also a first report of a small fusion tag of human origin having affinity to heparin sepharose column facilitating the purification of fusion protein.

Keywords: fusion tag, bacterial expression, rare codons, human GMCSF

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