Search results for: gene ontology

Authors: Saeid Doaei

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The various studies have examined the relationship between FTO gene expression and macronutrients levels. In order to obtain better viewpoint from this interactions, all of the existing studies were reviewed systematically. All published papers have been obtained and reviewed using standard and sensitive keywords from databases such as CINAHL, Embase, PubMed, PsycInfo, and the Cochrane, from 1990 to 2016. The results indicated that all of 6 studies that met the inclusion criteria (from a total of 428 published article) found FTO gene expression changes at short-term follow-ups. Four of six studies found an increased FTO gene expression after calorie restriction, while two of them indicated decreased FTO gene expression. The effect of protein, carbohydrate and fat were separately assessed and suggested by all of six studies. In conclusion, the level of FTO gene expression in hypothalamus is related to macronutrients levels. Future research should evaluate the long-term impact of dietary interventions.

Keywords: obesity, gene expression, FTO, macronutrients

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Authors: Neli P. Zlatareva

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Ontology validation is an important part of web applications’ development, where knowledge integration and ontological reasoning play a fundamental role. It aims to ensure the consistency and correctness of ontological knowledge and to guarantee that ontological reasoning is carried out in a meaningful way. Existing approaches to ontology validation address more or less specific validation issues, but the overall process of validating web ontologies has not been formally established yet. As the size and the number of web ontologies continue to grow, the necessity to validate and ensure their consistency and interoperability is becoming increasingly important. This paper presents a validation technique intended to test the consistency of independent ontologies utilized by a common application.

Keywords: knowledge engineering, ontological reasoning, ontology validation, semantic web

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Authors: Bhuvanesh Baniya

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Alzheimer disease is illnesses that are responsible for neuronal cell death and resulting in lifelong cognitive problems. Due to their unclear mechanism, there are no effective drugs available for the treatment. For a long time, herbal drugs have been used as a role model in the field of the drug discovery process. Holy basil in the Indian medicinal system (Ayurveda) is used for several neuronal disorders like insomnia and memory loss for decades. This study aims to identify active components of holy basil as potential inhibitors for the treatment of Alzheimer disease. To fulfill this objective, the Network pharmacology approach, gene ontology, pharmacokinetics analysis, molecular docking, and molecular dynamics simulation (MDS) studies were performed. A total of 7 active components in holy basil, 12 predicted neurodegenerative targets of holy basil, and 8063 Alzheimer-related targets were identified from different databases. The network analysis showed that the top ten targets APP, EGFR, MAPK1, ESR1, HSPA4, PRKCD, MAPK3, ABL1, JUN, and GSK3B were found as significant target related to Alzheimer disease. On the basis of gene ontology and topology analysis results, APP was found as a significant target related to Alzheimer’s disease pathways. Further, the molecular docking results to found that various compounds showed the best binding affinities. Further, MDS top results suggested could be used as potential inhibitors against APP protein and could be useful for the treatment of Alzheimer’s disease.

Keywords: holy basil, network pharmacology, neurodegeneration, active phytochemicals, molecular docking and simulation

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Authors: Marc Sango, Olimpia Hoinaru, Christophe Gransart, Laurence Duchien

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Ontologies offer a means for representing and sharing information in many domains, particularly in complex domains. For example, it can be used for representing and sharing information of System Requirement Specification (SRS) of complex systems like the SRS of ERTMS/ETCS written in natural language. Since this system is a real-time and critical system, generic ontologies, such as OWL and generic ERTMS ontologies provide minimal support for modeling temporal information omnipresent in these SRS documents. To support the modeling of temporal information, one of the challenges is to enable representation of dynamic features evolving in time within a generic ontology with a minimal redesign of it. The separation of temporal information from other information can help to predict system runtime operation and to properly design and implement them. In addition, it is helpful to provide a reasoning and querying techniques to reason and query temporal information represented in the ontology in order to detect potential temporal inconsistencies. Indeed, a user operation, such as adding a new constraint on existing planning constraints can cause temporal inconsistencies, which can lead to system failures. To address this challenge, we propose a lightweight 3-layer temporal Quality of Service (QoS) ontology for representing, reasoning and querying over temporal and non-temporal information in a complex domain ontology. Representing QoS entities in separated layers can clarify the distinction between the non QoS entities and the QoS entities in an ontology. The upper generic layer of the proposed ontology provides an intuitive knowledge of domain components, specially ERTMS/ETCS components. The separation of the intermediate QoS layer from the lower QoS layer allows us to focus on specific QoS Characteristics, such as temporal or integrity characteristics. In this paper, we focus on temporal information that can be used to predict system runtime operation. To evaluate our approach, an example of the proposed domain ontology for handover operation, as well as a reasoning rule over temporal relations in this domain-specific ontology, are given.

Keywords: system requirement specification, ERTMS/ETCS, temporal ontologies, domain ontologies

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Authors: Abderrahmane Khiat, Moussa Benaissa

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Due to the increasing number of sources of information available on the web and their distribution and heterogeneity, ontology alignment became a very important and inevitable problem to ensure semantic interoperability. Instance-based ontology alignment is based on the comparison of the extensions of concepts; and represents a very promising technique to find semantic correspondences between entities of different ontologies. In practice, two situations may arise: ontologies that share many common instances and ontologies that share few or do not share common instances. In this paper, we describe an approach to manage the latter case. This approach exploits the reasoning on ontologies in order to create a corpus of common instances. We show that it is theoretically powerful because it is based on description logics and very useful in practice. We present the experimental results obtained by running our approach on ontologies of OAEI 2012 benchmark test. The results show the performance of our approach.

Keywords: description logic inference, instance-based ontology alignment, semantic interoperability, semantic web

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Authors: Onyekachi Onwudike, Russell Lock, Iain Phillips

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The variability that exists across governments, her departments and the provisioning of services has been areas of concern in the E-Government domain. There is a need for reuse and integration across government departments which are accompanied by varying degrees of risks and threats. There is also the need for assessment, prevention, preparation, response and recovery when dealing with these risks or threats. The ability of a government to cope with the emerging changes that occur within it is known as resilience. In order to forge ahead with concerted efforts to manage reuse and integration induced risks or threats to governments, the ambiguities contained within resilience must be addressed. Enhancing resilience in the E-Government domain is synonymous with reducing risks governments face with provisioning of services as well as reuse of components across departments. Therefore, it can be said that resilience is responsible for the reduction in government’s vulnerability to changes. In this paper, we present the use of the ontology to measure the resilience of governments. This ontology is made up of a well-defined construct for the taxonomy of resilience. A specific class known as ‘Resilience Requirements’ is added to the ontology. This class embraces the concept of resilience into the E-Government domain ontology. Considering that the E-Government domain is a highly complex one made up of different departments offering different services, the reliability and resilience of the E-Government domain have become more complex and critical to understand. We present questions that can help a government access how prepared they are in the face of risks and what steps can be taken to recover from them. These questions can be asked with the use of queries. The ontology focuses on developing a case study section that is used to explore ways in which government departments can become resilient to the different kinds of risks and threats they may face. A collection of resilience tools and resources have been developed in our ontology to encourage governments to take steps to prepare for emergencies and risks that a government may face with the integration of departments and reuse of components across government departments. To achieve this, the ontology has been extended by rules. We present two tools for understanding resilience in the E-Government domain as a risk analysis target and the output of these tools when applied to resilience in the E-Government domain. We introduce the classification of resilience using the defined taxonomy and modelling of existent relationships based on the defined taxonomy. The ontology is constructed on formal theory and it provides a semantic reference framework for the concept of resilience. Key terms which fall under the purview of resilience with respect to E-Governments are defined. Terms are made explicit and the relationships that exist between risks and resilience are made explicit. The overall aim of the ontology is to use it within standards that would be followed by all governments for government-based resilience measures.

Keywords: E-Government, Ontology, Relationships, Resilience, Risks, Threats

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Authors: Mona Heydari, Ehsan Motamedian, Seyed Abbas Shojaosadati

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Prediction of perturbations after genetic manipulation (especially gene knockout) is one of the important challenges in systems biology. In this paper, a new algorithm is introduced that integrates microarray data into the metabolic model. The algorithm was used to study the change in the cell phenotype after knockout of Gss gene in Escherichia coli BW25113. Algorithm implementation indicated that gene deletion resulted in more activation of the metabolic network. Growth yield was more and less regulating gene were identified for mutant in comparison with the wild-type strain.

Keywords: metabolic network, gene knockout, flux balance analysis, microarray data, integration

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Authors: Sahar Maâlej Dammak, Anis Jedidi, Rafik Bouaziz

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With the great mass of pages managed through the world, and especially with the advent of the Web, their manual annotation is impossible. We focus, in this paper, on the semiautomatic annotation of the web pages. We propose an approach and a framework for semantic annotation of web pages entitled “Querying Web”. Our solution is an enhancement of the first result of annotation done by the “Semantic Radar” Plug-in on the web resources, by annotations using an enriched domain ontology. The concepts of the result of Semantic Radar may be connected to several terms of the ontology, but connections may be uncertain. We represent annotations as possibility distributions. We use the hierarchy defined in the ontology to compute degrees of possibilities. We want to achieve an automation of the fuzzy semantic annotation of web resources.

Keywords: fuzzy semantic annotation, semantic web, domain ontologies, querying web

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Authors: Fateh Adhnouss, Husam El-Asfour, Kenneth McIsaac, AbdulMutalib Wahaishi, Idris El-Feghia

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Conceptualization is an essential component of semantic ontology-based approaches. There have been several approaches that rely on extensional structure and extensional reduction structure in order to construct conceptualization. In this paper, several limitations are highlighted relating to their applicability to the construction of conceptualizations in dynamic and open environments. These limitations arise from a number of strong assumptions that do not apply to such environments. An intensional structure is strongly argued to be a natural and adequate modeling approach. This paper presents a conceptualization structure based on property relations and propositions theory (PRP) to the model ontology that is suitable for open environments. The model extends the First-Order Logic (FOL) notation and defines the formal representation that enables interoperability between software systems and supports semantic integration for software systems in open, dynamic environments.

Keywords: conceptualization, ontology, extensional structure, intensional structure

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Authors: Chaimaa Messaoudi, Rachida Fissoune, Hassan Badir

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Technological advances of computer science and data analysis are helping to provide continuously huge volumes of biological data, which are available on the web. Such advances involve and require powerful techniques for data integration to extract pertinent knowledge and information for a specific question. Biomedical exploration of these big data often requires the use of complex queries across multiple autonomous, heterogeneous and distributed data sources. Semantic integration is an active area of research in several disciplines, such as databases, information-integration, and ontology. We provide a survey of some approaches and techniques for integrating biological data, we focus on those developed in the ontology community.

Keywords: biological ontology, linked data, semantic data integration, semantic web

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Authors: Sabrina Azzi, Michal Iglewski, Véronique Nabelsi

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Diagnosis error problem is frequent and one of the most important safety problems today. One of the main objectives of our work is to propose an ontological representation that takes into account the diagnostic criteria in order to improve the diagnostic. We choose pneumonia disease since it is one of the frequent diseases affected by diagnosis errors and have harmful effects on patients. To achieve our aim, we use a semi-automated method to integrate diverse knowledge sources that include publically available pneumonia disease guidelines from international repositories, biomedical ontologies and electronic health records. We follow the principles of the Open Biomedical Ontologies (OBO) Foundry. The resulting ontology covers symptoms and signs, all the types of pneumonia, antecedents, pathogens, and diagnostic testing. The first evaluation results show that most of the terms are covered by the ontology. This work is still in progress and represents a first and major step toward a development of a diagnosis decision support system for pneumonia.

Keywords: Clinical decision support system, Diagnostic errors, Ontology, Pneumonia

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Authors: Emmanuel Chibuogu Asogwa, Tochukwu Sunday Belonwu

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An urgent demand for creative solutions has been created by the rapid expansion of medical knowledge, the complexity of patient care, and the requirement for more precise decision-making. As a solution to this problem, the creation of a Medical Intelligent Process Model (MIPM) utilizing ontology-based appears as a promising way to overcome this obstacle and unleash the full potential of healthcare systems. The development of a Medical Intelligent Process Model (MIPM) using ontology-based techniques is motivated by a lack of quick access to relevant medical information and advanced tools for treatment planning and clinical decision-making, which ontology-based techniques can provide. The aim of this work is to develop a structured and knowledge-driven framework that leverages ontology, a formal representation of domain knowledge, to enhance various aspects of healthcare. Object-Oriented Analysis and Design Methodology (OOADM) were adopted in the design of the system as we desired to build a usable and evolvable application. For effective implementation of this work, we used the following materials/methods/tools: the medical dataset for the test of our model in this work was obtained from Kaggle. The ontology-based technique was used with Confusion Matrix, MySQL, Python, Hypertext Markup Language (HTML), Hypertext Preprocessor (PHP), Cascaded Style Sheet (CSS), JavaScript, Dreamweaver, and Fireworks. According to test results on the new system using Confusion Matrix, both the accuracy and overall effectiveness of the medical intelligent process significantly improved by 20% compared to the previous system. Therefore, using the model is recommended for healthcare professionals.

Keywords: ontology-based, model, database, OOADM, healthcare

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Authors: A. Elsehemy, M. Abdeen , T. Nazmy

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Since the appearance of the Semantic web, many semantic search techniques and models were proposed to exploit the information in ontology to enhance the traditional keyword-based search. Many advances were made in languages such as English, German, French and Spanish. However, other languages such as Arabic are not fully supported yet. In this paper we present a framework for ontology based information retrieval for Arabic language. Our system consists of four main modules, namely query parser, indexer, search and a ranking module. Our approach includes building a semantic index by linking ontology concepts to documents, including an annotation weight for each link, to be used in ranking the results. We also augmented the framework with an automatic document categorizer, which enhances the overall document ranking. We have built three Arabic domain ontologies: Sports, Economic and Politics as example for the Arabic language. We built a knowledge base that consists of 79 classes and more than 1456 instances. The system is evaluated using the precision and recall metrics. We have done many retrieval operations on a sample of 40,316 documents with a size 320 MB of pure text. The results show that the semantic search enhanced with text classification gives better performance results than the system without classification.

Keywords: Arabic text classification, ontology based retrieval, Arabic semantic web, information retrieval, Arabic ontology

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Authors: Pranjali Avinash Yadav-Deshmukh

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Remarkable development of the Internet along with the new technological innovation, such as high-speed systems and affordable large storage space have led to a tremendous increase in the amount and accessibility to digital records. For any person, studying of all these data is tremendously time intensive, so there is a great need to access effective multi-document summarization (MDS) systems, which can successfully reduce details found in several records into a short, understandable summary or conclusion. For semantic representation of textual details in ontology area, as a theoretical design, our system provides a significant structure. The stability of using the ontology in fixing multi-document summarization problems in the sector of catastrophe control is finding its recommended design. Saliency ranking is usually allocated to each phrase and phrases are rated according to the ranking, then the top rated phrases are chosen as the conclusion. With regards to the conclusion quality, wide tests on a selection of media announcements are appropriate for “Jammu Kashmir Overflow in 2014” records. Ontology centered multi-document summarization methods using “NLP centered extraction” outshine other baselines. Our participation in recommended component is to implement the details removal methods (NLP) to enhance the results.

Keywords: disaster management, extraction technique, k-means, multi-document summarization, NLP, ontology, sentence extraction

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Authors: Hao-Hsiang Ku, Ching-Ho Chi

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Big data applications have become an imperative for many fields. Many researchers have been devoted into increasing correct rates and reducing time complexities. Hence, the study designs and proposes an Ontology-based backpropagation neural network classification and reasoning strategy for NoSQL big data applications, which is called ON4NoSQL. ON4NoSQL is responsible for enhancing the performances of classifications in NoSQL and SQL databases to build up mass behavior models. Mass behavior models are made by MapReduce techniques and Hadoop distributed file system based on Hadoop service platform. The reference engine of ON4NoSQL is the ontology-based backpropagation neural network classification and reasoning strategy. Simulation results indicate that ON4NoSQL can efficiently achieve to construct a high performance environment for data storing, searching, and retrieving.

Keywords: Hadoop, NoSQL, ontology, back propagation neural network, high distributed file system

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Authors: Said Boularouk, Didier Josselin, Eitan Altman

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In this paper, we present a vocal ontology of OpenStreetMap data for the apprehension of space by visually impaired people. Indeed, the platform based on produsage gives a freedom to data producers to choose the descriptors of geocoded locations. Unfortunately, this freedom, called also folksonomy leads to complicate subsequent searches of data. We try to solve this issue in a simple but usable method to extract data from OSM databases in order to send them to visually impaired people using Text To Speech technology. We focus on how to help people suffering from visual disability to plan their itinerary, to comprehend a map by querying computer and getting information about surrounding environment in a mono-modal human-computer dialogue.

Keywords: TTS, ontology, open street map, visually impaired

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Authors: Estela Mayra de Moura Vianna, Thiago José Tavares Ávila, Bruno Morais Silva, Diego Henrique Bezerra, Paulo Henrique Gomes Silva, Alan Pedro da Silva

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The Brazilian Federal Constitution defines the access to information as a crucial right of the citizen and the Law on Access to Public Information, which regulates this right. Accordingly, the Fiscal Responsibility Act, 2000, amended in 2009 by the “Law of Transparency”, began demanding a wider disclosure of public accounts for the society, including electronic media for public access. Thus, public entities began to create "Transparency Portals," which aim to gather a diversity of data and information. However, this information, in general, is still published in formats that do not simplify understanding of the data by citizens and that could be better especially available for audit purposes. In this context, a proposal of ontology about Brazilian Transparency Portal can play a key role in how these data will be better available. This study aims to identify and implement in ontology, the data model about Transparency Portal ecosystem, with emphasis in activities that use these data for some applications, like audits, press activities, social government control, and others.

Keywords: audit, government transparency, ontology, public sector

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Authors: Mohd Ridzwan Yaakub, Muhammad Iqbal Abu Latiffi

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Online business has become popular recently due to the massive amount of information and medium available on the Internet. This has resulted in the huge number of reviews where the consumers share their opinion, criticisms, and satisfaction on the products they have purchased on the websites or the social media such as Facebook and Twitter. However, to analyze customer’s behavior has become very important for organizations to find new market trends and insights. The reviews from the websites or the social media are in structured and unstructured data that need a sentiment analysis approach in analyzing customer’s review. In this article, techniques used in will be defined. Definition of the ontology and description of its possible usage in sentiment analysis will be defined. It will lead to empirical research that related to mobile phones used in research and the ontology used in the experiment. The researcher also will explore the role of preprocessing data and feature selection methodology. As the result, ontology-based approach in sentiment analysis can help in achieving high accuracy for the classification task.

Keywords: feature selection, ontology, opinion, preprocessing data, sentiment analysis

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Authors: C. -L. Huang, J. -H. Ho

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Social media has become more and more important in our life. Many enterprises promote their services and products to fans via the social media. The positive or negative sentiment of feedbacks from fans is very important for enterprises to improve their products, services, and promotion activities. The purpose of this paper is to understand the sentiment of the fan’s responses by analyzing the responses posted by fans on Facebook. The entity and aspect of fan’s responses were analyzed based on a predefined ontology. The ontology for cell phone sentiment analysis consists of aspect categories on the top level as follows: overall, shape, hardware, brand, price, and service. Each category consists of several sub-categories. All aspects for a fan’s response were found based on the ontology, and their corresponding sentimental terms were found using lexicon-based approach. The sentimental scores for aspects of fan responses were obtained by summarizing the sentimental terms in responses. The frequency of 'like' was also weighted in the sentimental score calculation. Three famous cell phone fan pages on Facebook were selected as demonstration cases to evaluate performances of the proposed methodology. Human judgment by several domain experts was also built for performance comparison. The performances of proposed approach were as good as those of human judgment on precision, recall and F1-measure.

Keywords: opinion mining, ontology, sentiment analysis, text mining

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Authors: Laila Khaled Almawaldi, Hiew Khai Hang, Sugumaran A. l. Nallusamy

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Legacy systems are crucial for organizations, but their intricacy and lack of documentation pose challenges for maintenance and enhancement. Redocumentation of legacy systems is vital for automatically or semi-automatically creating documentation for software lacking sufficient records. It aims to enhance system understandability, maintainability, and knowledge transfer. However, existing redocumentation methods need improvement in data processing performance and document generation efficiency. This stems from the necessity to efficiently handle the extensive and complex code of legacy systems. This paper proposes a method for semi-automatic legacy system re-documentation using semantic parallel processing and ontology. Leveraging parallel processing and ontology addresses current challenges by distributing the workload and creating documentation with logically interconnected data. The paper outlines challenges in legacy system redocumentation and suggests a method of redocumentation using parallel processing and ontology for improved efficiency and effectiveness.

Keywords: legacy systems, redocumentation, big data analysis, parallel processing

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Authors: Alhadi Bustaman, Soeganda Formalidin, Titin Siswantining

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DNA microarray technology is used to analyze thousand gene expression data simultaneously and a very important task for drug development and test, function annotation, and cancer diagnosis. Various clustering methods have been used for analyzing gene expression data. However, when analyzing very large and heterogeneous collections of gene expression data, conventional clustering methods often cannot produce a satisfactory solution. Biclustering algorithm has been used as an alternative approach to identifying structures from gene expression data. In this paper, we introduce a transform technique based on singular value decomposition to identify normalized matrix of gene expression data followed by Mixed-Clustering algorithm and the Lift algorithm, inspired in the node-deletion and node-addition phases proposed by Cheng and Church based on Agglomerative Hierarchical Clustering (AHC). Experimental study on standard datasets demonstrated the effectiveness of the algorithm in gene expression data.

Keywords: agglomerative hierarchical clustering (AHC), biclustering, gene expression data, lymphoma, singular value decomposition (SVD)

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Authors: Hazha Hidayat, Shayma Ibrahim

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Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

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Authors: F. H. Abanda, B. Kamsu-Foguem, J. H. M. Tah

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Construction cost estimation is one of the most important aspects of construction project design. For generations, the process of cost estimating has been manual, time-consuming and error-prone. This has partly led to most cost estimates to be unclear and riddled with inaccuracies that at times lead to over- or under-estimation of construction cost. The development of standard set of measurement rules that are understandable by all those involved in a construction project, have not totally solved the challenges. Emerging Building Information Modelling (BIM) technologies can exploit standard measurement methods to automate cost estimation process and improves accuracies. This requires standard measurement methods to be structured in ontologically and machine readable format; so that BIM software packages can easily read them. Most standard measurement methods are still text-based in textbooks and require manual editing into tables or Spreadsheet during cost estimation. The aim of this study is to explore the development of an ontology based on New Rules of Measurement (NRM) commonly used in the UK for cost estimation. The methodology adopted is Methontology, one of the most widely used ontology engineering methodologies. The challenges in this exploratory study are also reported and recommendations for future studies proposed.

Keywords: BIM, construction projects, cost estimation, NRM, ontology

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Authors: Hala Alshamlan, Ghada Badr, Yousef Alohali

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Cancer is one of the dreadful diseases, which causes considerable death rate in humans. DNA microarray-based gene expression profiling has been emerged as an efficient technique for cancer classification, as well as for diagnosis, prognosis, and treatment purposes. In recent years, a DNA microarray technique has gained more attraction in both scientific and in industrial fields. It is important to determine the informative genes that cause cancer to improve early cancer diagnosis and to give effective chemotherapy treatment. In order to gain deep insight into the cancer classification problem, it is necessary to take a closer look at the proposed gene selection methods. We believe that they should be an integral preprocessing step for cancer classification. Furthermore, finding an accurate gene selection method is a very significant issue in a cancer classification area because it reduces the dimensionality of microarray dataset and selects informative genes. In this paper, we classify and review the state-of-art gene selection methods. We proceed by evaluating the performance of each gene selection approach based on their classification accuracy and number of informative genes. In our evaluation, we will use four benchmark microarray datasets for the cancer diagnosis (leukemia, colon, lung, and prostate). In addition, we compare the performance of gene selection method to investigate the effective gene selection method that has the ability to identify a small set of marker genes, and ensure high cancer classification accuracy. To the best of our knowledge, this is the first attempt to compare gene selection approaches for cancer classification using microarray gene expression profile.

Keywords: gene selection, feature selection, cancer classification, microarray, gene expression profile

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Authors: Konstantinos Sofianos, Michail Stefanidakis

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Nowadays, despite the great advances in technology, most educational frameworks lack a strong educational design basis. E-learning has become prevalent, but it faces various challenges such as student isolation and lack of quality in the learning process. An intelligent learning system provides a student with educational material according to their learning background and learning preferences. It records full information about the student, such as demographic information, learning styles, and academic performance. This information allows the system to be fully adapted to the student’s needs. In this paper, we propose a framework and an ontology for music education, consisting of the learner model and all elements of the learning process (learning objects, teaching methods, learning activities, assessment). This framework can be integrated into an intelligent learning system and used for music education in schools for the development of professional skills and beyond.

Keywords: intelligent learning systems, e-learning, music education, ontology, semantic web

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Authors: A. Elbyed

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Nowadays, ontologies are used for achieving a common understanding within a user community and for sharing domain knowledge. However, the de-centralized nature of the web makes indeed inevitable that small communities will use their own ontologies to describe their data and to index their own resources. Certainly, accessing to resources from various ontologies created independently is an important challenge for answering end user queries. Ontology mapping is thus required for combining ontologies. However, mapping complete ontologies at run time is a computationally expensive task. This paper proposes a system in which mappings between concepts may be generated dynamically as the concepts are encountered during user queries. In this way, the interaction itself defines the context in which small and relevant portions of ontologies are mapped. We illustrate application of the proposed system in the context of Technology Enhanced Learning (TEL) where learners need to access to learning resources covering specific concepts.

Keywords: resources query, ontologies, ontology mapping, similarity measures, semantic web, e-learning

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Authors: Shohei Maruyama, Yasuo Matsuyama, Sachiyo Aburatani

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The development of the method to annotate unknown gene functions is an important task in bioinformatics. One of the approaches for the annotation is The identification of the metabolic pathway that genes are involved in. Gene expression data have been utilized for the identification, since gene expression data reflect various intracellular phenomena. However, it has been difficult to estimate the gene function with high accuracy. It is considered that the low accuracy of the estimation is caused by the difficulty of accurately measuring a gene expression. Even though they are measured under the same condition, the gene expressions will vary usually. In this study, we proposed a feature extraction method focusing on the variability of gene expressions to estimate the genes' metabolic pathway accurately. First, we estimated the distribution of each gene expression from replicate data. Next, we calculated the similarity between all gene pairs by KL divergence, which is a method for calculating the similarity between distributions. Finally, we utilized the similarity vectors as feature vectors and trained the multiclass SVM for identifying the genes' metabolic pathway. To evaluate our developed method, we applied the method to budding yeast and trained the multiclass SVM for identifying the seven metabolic pathways. As a result, the accuracy that calculated by our developed method was higher than the one that calculated from the raw gene expression data. Thus, our developed method combined with KL divergence is useful for identifying the genes' metabolic pathway.

Keywords: metabolic pathways, gene expression data, microarray, Kullback–Leibler divergence, KL divergence, support vector machines, SVM, machine learning

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Authors: Ghazal Faraj, Andras Micsik

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The CIDOC Conceptual Reference Model (CRM) is an extensible ontology that provides integrated access to heterogeneous and digital datasets. The CIDOC-CRM offers a “semantic glue” intended to promote accessibility to several diverse and dispersed sources of cultural heritage data. That is achieved by providing a formal structure for the implicit and explicit concepts and their relationships in the cultural heritage field. The COURAGE (“Cultural Opposition – Understanding the CultuRal HeritAGE of Dissent in the Former Socialist Countries”) project aimed to explore methods about socialist-era cultural resistance during 1950-1990 and planned to serve as a basis for further narratives and digital humanities (DH) research. This project highlights the diversity of flourished alternative cultural scenes in Eastern Europe before 1989. Moreover, the dataset of COURAGE is an online RDF-based registry that consists of historical people, organizations, collections, and featured items. For increasing the inter-links between different datasets and retrieving more relevant data from various data silos, a shared federated ontology for reconciled data is needed. As a first step towards these goals, a full understanding of the CIDOC CRM ontology (target ontology), as well as the COURAGE dataset, was required to start the work. Subsequently, the queries toward the ontology were determined, and a table of equivalent properties from COURAGE and CIDOC CRM was created. The structural diagrams that clarify the mapping process and construct queries are on progress to map person, organization, and collection entities to the ontology. Through mapping the COURAGE dataset to CIDOC-CRM ontology, the dataset will have a common ontological foundation with several other datasets. Therefore, the expected results are: 1) retrieving more detailed data about existing entities, 2) retrieving new entities’ data, 3) aligning COURAGE dataset to a standard vocabulary, 4) running distributed SPARQL queries over several CIDOC-CRM datasets and testing the potentials of distributed query answering using SPARQL. The next plan is to map CIDOC-CRM to other upper-level ontologies or large datasets (e.g., DBpedia, Wikidata), and address similar questions on a wide variety of knowledge bases.

Keywords: CIDOC CRM, cultural heritage data, COURAGE dataset, ontology alignment

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Authors: Rachel Matar, Maxime Merheb

Abstract:

Chemical drugs have been used for many centuries as the only way to cure diseases until the novel gene therapy has been created in 1960. Gene therapy is based on the insertion, correction, or inactivation of genes to treat people with genetic illness (1). Gene therapy has made wonders in Parkison’s, Alzheimer and multiple sclerosis. In addition to great promises in the healing of deadly diseases like many types of cancer and autoimmune diseases (2). This method implies the use of recombinant DNA technology with the help of different viral and non-viral vectors (3). It is nowadays used in somatic cells as well as embryos and gametes. Beside all the benefits of gene therapy, this technique is deemed by some opponents as an ethically unacceptable treatment as it implies playing with the genes of living organisms.

Keywords: gene therapy, genetic disease, cancer, multiple sclerosis

Procedia PDF Downloads 512

Authors: Daina Jonkus, Liga Paura, Tatjana Sjakste, Kristina Dokane

Abstract:

The aim of this study was to analyse PRKAG3 and RYR1 gene and genotypes frequencies in Latvian White pigs’ breed. Genotypes of RYR1 gene two loci (rs196953058 and rs323041392) in 89 exon and PRKAG3 gene two loci (rs196958025 and rs344045190) in gene promoter were detected in 103 individuals of Latvian white pigs’ breed. Analysis of RYR1 gene loci rs196953058 shows all individuals are homozygous by T allele and all animals are with genotypes TT, its mean - in 2769 position is Phenylalanine. Analysis of RYR1 gene loci rs323041392 shows all individuals are homozygous by G allele and all animals are with genotypes GG, its mean - in 4119 positions is Asparagine. In loci rs196953058 and rs323041392, there were no gene polymorphisms. All analysed individuals by two loci rs196953058-rs323041392 have TT-GG genotypes or Phe-Asp amino acids. In PRKAG3 gene loci rs196958025 and rs344045190 there was gene polymorphisms. In both loci frequencies for A allele was higher: 84.6% for rs196958025 and 73.0% for rs344045190. Analysis of PRKAG3 gene loci rs196958025 shows 74% of individuals are homozygous by An allele and animals are with genotypes AA. Only 4% of individuals are homozygous by G allele and animals are with genotypes GG, which is associated with pale meat colour and higher drip loss. Analysis of PRKAG3 gene loci rs344045190 shows 46% of individuals are homozygous with genotypes AA and 54% of individuals are heterozygous with genotypes AG. There are no individuals with GG genotypes. According to the results, in Latvian white pigs population there are no rs344435545 (RYR1 gene) CT heterozygous or TT recessive homozygous genotypes, which is related to the meat quality and pigs’ stress syndrome; and there are 4% rs196958025 (PRKAG3 gene) GG recessive homozygote genotypes, which is related to the meat quality. Acknowledgment: the investigation is supported by VPP 2014-2017 AgroBioRes Project No. 3 LIVESTOCK.

Keywords: genotype frequencies, pig, PRKAG3, RYR1

Procedia PDF Downloads 191