Search results for: Gene Ontology

Authors: Helyane B. Borges, Julio Cesar Nievola

Abstract:

Hierarchical classification is a problem with applications in many areas as protein function prediction where the dates are hierarchically structured. Therefore, it is necessary the development of algorithms able to induce hierarchical classification models. This paper presents experimenters using the algorithm for hierarchical classification called Multi-label Hierarchical Classification using a Competitive Neural Network (MHC-CNN). It was tested in ten datasets the Gene Ontology (GO) Cellular Component Domain. The results are compared with the Clus-HMC and Clus-HSC using the hF-Measure.

Keywords: Hierarchical Classification, Competitive Neural Network, Global Classifier.

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Authors: Purnomo Yustianto, Robin Doss

Abstract:

As a process of developing a service system, the term ‘service engineering’ evolves in scope and definition. To achieve an integrated understanding of the process, a general framework and an ontology are required. This paper extends a previously built service engineering framework by exploring metamodels for the framework artefacts based on a foundational ontology and a metamodel landscape. The first part of this paper presents a correlation map between the proposed framework with the ontology as a form of evaluation for the conceptual coverage of the framework. The mapping also serves to characterize the artefacts to be produced for each activity in the framework. The second part describes potential metamodels to be used, from the metamodel landscape, as alternative formats of the framework artefacts. The results suggest that the framework sufficiently covers the ontological concepts, both from general service context and software service context. The metamodel exploration enriches the suggested artefact format from the original eighteen formats to thirty metamodel alternatives.

Keywords: Artefact, framework, service, metamodel.

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Authors: Micheal Olaolu Arowolo, Muhammad Azam, Fei He, Mihail Popescu, Dong Xu

Abstract:

As the quantity of biological articles rises, so does the number of biological route figures. Each route figure shows gene names and relationships. Manually annotating pathway diagrams is time-consuming. Advanced image understanding models could speed up curation, but they must be more precise. There is rich information in biological pathway figures. The first step to performing image understanding of these figures is to recognize gene names automatically. Classical optical character recognition methods have been employed for gene name recognition, but they are not optimized for literature mining data. This study devised a method to recognize an image bounding box of gene name as a photo using deep Siamese neural network models to outperform the existing methods using ResNet, DenseNet and Inception architectures, the results obtained about 84% accuracy.

Keywords: Biological pathway, gene identification, object detection, Siamese network, ResNet.

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Authors: Liping Jing, Michael K. Ng, Tieyong Zeng

Abstract:

Microarray data profiles gene expression on a whole genome scale, therefore, it provides a good way to study associations between gene expression and occurrence or progression of cancer. More and more researchers realized that microarray data is helpful to predict cancer sample. However, the high dimension of gene expressions is much larger than the sample size, which makes this task very difficult. Therefore, how to identify the significant genes causing cancer becomes emergency and also a hot and hard research topic. Many feature selection algorithms have been proposed in the past focusing on improving cancer predictive accuracy at the expense of ignoring the correlations between the features. In this work, a novel framework (named by SGS) is presented for stable gene selection and efficient cancer prediction . The proposed framework first performs clustering algorithm to find the gene groups where genes in each group have higher correlation coefficient, and then selects the significant genes in each group with Bayesian Lasso and important gene groups with group Lasso, and finally builds prediction model based on the shrinkage gene space with efficient classification algorithm (such as, SVM, 1NN, Regression and etc.). Experiment results on real world data show that the proposed framework often outperforms the existing feature selection and prediction methods, say SAM, IG and Lasso-type prediction model.

Keywords: Gene Selection, Cancer Prediction, Lasso, Clustering, Classification.

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Authors: Ahmed Tawfik, Fausto Giunchiglia, Vincenzo Maltese

Abstract:

Ontologies provide a common understanding of a specific domain of interest that can be communicated between people and used as background knowledge for automated reasoning in a wide range of applications. In this paper, we address the design of multilingual ontologies following well-defined knowledge engineering methodologies with the support of novel collaborative development approaches. In particular, we present a collaborative platform which allows ontologies to be developed incrementally in multiple languages. This is made possible via an appropriate mapping between language independent concepts and one lexicalization per language (or a lexical gap in case such lexicalization does not exist). The collaborative platform has been designed to support the development of the Universal Knowledge Core, a multilingual ontology currently in English, Italian, Chinese, Mongolian, Hindi and Bangladeshi. Its design follows a workflow-based development methodology that models resources as a set of collaborative objects and assigns customizable workflows to build and maintain each collaborative object in a community driven manner, with extensive support of modern web 2.0 social and collaborative features.

Keywords: Knowledge Diversity, Knowledge Representation, Ontology Development.

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Authors: Rio G. L. D'Souza, K. Chandra Sekaran, A. Kandasamy

Abstract:

The goal of Gene Expression Analysis is to understand the processes that underlie the regulatory networks and pathways controlling inter-cellular and intra-cellular activities. In recent times microarray datasets are extensively used for this purpose. The scope of such analysis has broadened in recent times towards reconstruction of gene networks and other holistic approaches of Systems Biology. Evolutionary methods are proving to be successful in such problems and a number of such methods have been proposed. However all these methods are based on processing of genotypic information. Towards this end, there is a need to develop evolutionary methods that address phenotypic interactions together with genotypic interactions. We present a novel evolutionary approach, called Phenomic algorithm, wherein the focus is on phenotypic interaction. We use the expression profiles of genes to model the interactions between them at the phenotypic level. We apply this algorithm to the yeast sporulation dataset and show that the algorithm can identify gene networks with relative ease.

Keywords: Evolutionary computing, gene expression analysis, gene networks, microarray data analysis, phenomic algorithms.

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Authors: I. Boroňová, J. Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, S. Mačeková, J. Poráčová, M. M. Blaščáková

Abstract:

Osteoporosis is a common multifactorial disease with a strong genetic component characterized by reduced bone mass and increased risk of fractures. Genetic factors play an important role in the pathogenesis of osteoporosis. The aim of our study was to identify the genotype and allele distribution of T245G polymorphism in OPG gene in Slovak postmenopausal women. A total of 200 unrelated Slovak postmenopausal women with diagnosed osteoporosis and 200 normal controls were genotyped for T245G (rs3134069) polymorphism of OPG gene. Genotyping was performed using the Custom Taqman®SNP Genotyping assays. Genotypes and alleles frequencies showed no significant differences (p=0.5551; p=0.6022). The results of the present study confirm the importance of T245G polymorphism in OPG gene in the pathogenesis of osteoporosis.

Keywords: OPG gene, osteoporosis, Real-time PCR, T245G polymorphism.

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Authors: Hu Haibo, Tu Chunmei, Fu Chunlei, Fu Li, Mao Fan, Ma Yuan

Abstract:

Chinese Idioms are a type of traditional Chinese idiomatic expressions with specific meanings and stereotypes structure which are widely used in classical Chinese and are still common in vernacular written and spoken Chinese today. Currently, Chinese Idioms are retrieved in glossary with key character or key word in morphology or pronunciation index that can not meet the need of searching semantically. OCIRS is proposed to search the desired idiom in the case of users only knowing its meaning without any key character or key word. The user-s request in a sentence or phrase will be grammatically analyzed in advance by word segmentation, key word extraction and semantic similarity computation, thus can be mapped to the idiom domain ontology which is constructed to provide ample semantic relations and to facilitate description logics-based reasoning for idiom retrieval. The experimental evaluation shows that OCIRS realizes the function of searching idioms via semantics, obtaining preliminary achievement as requested by the users.

Keywords: Chinese idiom, idiom retrieval, semantic searching, ontology, semantics similarity.

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Authors: Tiancheng Lan

Abstract:

E10A is a kind of replication-defective adenovirus which carries the human endostatin gene to inhibit the growth of tumors. Kringle 5(K5) has almost the same function as angiostatin to also inhibit the growth of tumors since they are all the byproduct of the proteolytic cleavage of plasminogen. Tumor size increasing can be suppressed because both of the endostatin and K5 can restrain the angiogenesis process. Therefore, in order to improve the treatment effect on tumor, 2A peptide is used to construct a fusion gene carrying both E10A and K5. Using 2A peptide is an ideal strategy when a fusion gene is expressed because it can avoid many problems during the expression of more than one kind of protein. The overlap extension PCR is also used to connect 2A peptide with E10A and K5. The final construction of fusion gene E10A-2A-K5 can provide a possible new method of the anti-angiogenesis treatment with a better expression performance.

Keywords: E10A, Kringle 5, 2A peptide, overlap extension PCR.

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Authors: Jiaqi Yan, Sherry Sun, Huaiqing Wang, Zhongsheng Hua

Abstract:

In the highly competitive and rapidly changing global marketplace, independent organizations and enterprises often come together and form a temporary alignment of virtual enterprise in a supply chain to better provide products or service. As firms adopt the systems approach implicit in supply chain management, they must manage the quality from both internal process control and external control of supplier quality and customer requirements. How to incorporate quality management of upstream and downstream supply chain partners into their own quality management system has recently received a great deal of attention from both academic and practice. This paper investigate the collaborative feature and the entities- relationship in a supply chain, and presents an ontology of collaborative supply chain from an approach of aligning service-oriented framework with service-dominant logic. This perspective facilitates the segregation of material flow management from manufacturing capability management, which provides a foundation for the coordination and integration of the business process to measure, analyze, and continually improve the quality of products, services, and process. Further, this approach characterizes the different interests of supply chain partners, providing an innovative approach to analyze the collaborative features of supply chain. Furthermore, this ontology is the foundation to develop quality management system which internalizes the quality management in upstream and downstream supply chain partners and manages the quality in supply chain systematically.

Keywords: Ontology, supply chain quality management, service-oriented architecture, service-dominant logic.

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Authors: Mohammed Erritali

Abstract:

The growth in the volume of text data such as books and articles in libraries for centuries has imposed to establish effective mechanisms to locate them. Early techniques such as abstraction, indexing and the use of classification categories have marked the birth of a new field of research called "Information Retrieval". Information Retrieval (IR) can be defined as the task of defining models and systems whose purpose is to facilitate access to a set of documents in electronic form (corpus) to allow a user to find the relevant ones for him, that is to say, the contents which matches with the information needs of the user. This paper presents a new semantic indexing approach of a documentary corpus. The indexing process starts first by a term weighting phase to determine the importance of these terms in the documents. Then the use of a thesaurus like Wordnet allows moving to the conceptual level. Each candidate concept is evaluated by determining its level of representation of the document, that is to say, the importance of the concept in relation to other concepts of the document. Finally, the semantic index is constructed by attaching to each concept of the ontology, the documents of the corpus in which these concepts are found.

Keywords: Semantic, indexing, corpora, WordNet, ontology.

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Authors: Sahar Nasrolahi, Mahdi Nikdast, Mehrdad Mahdavi Boroujerdi

Abstract:

The purpose of semantic web research is to transform the Web from a linked document repository into a distributed knowledge base and application platform, thus allowing the vast range of available information and services to be more efficiently exploited. As a first step in this transformation, languages such as OWL have been developed. Although fully realizing the Semantic Web still seems some way off, OWL has already been very successful and has rapidly become a defacto standard for ontology development in fields as diverse as geography, geology, astronomy, agriculture, defence and the life sciences. The aim of this paper is to classify key concepts of Semantic Web as well as introducing a new practical approach which uses these concepts to outperform Word Wide Web.

Keywords: Semantic Web, Ontology, OWL, Microformat, Word Wide Web.

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Authors: Heejung Lee

Abstract:

To offer a large variety of products while maintaining low costs, high speed, and high quality in a mass customization product development environment, platform based product development has much benefit and usefulness in many industry fields. This paper proposes a product configuration strategy by similarity measure, incorporating the knowledge engineering principles such as product information model, ontology engineering, and formal concept analysis.

Keywords: Platform, product family, ontology, formal concept analysis.

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Authors: Hmway Hmway Tar, Thi Thi Soe Nyaunt

Abstract:

Documents clustering become an essential technology with the popularity of the Internet. That also means that fast and high-quality document clustering technique play core topics. Text clustering or shortly clustering is about discovering semantically related groups in an unstructured collection of documents. Clustering has been very popular for a long time because it provides unique ways of digesting and generalizing large amounts of information. One of the issues of clustering is to extract proper feature (concept) of a problem domain. The existing clustering technology mainly focuses on term weight calculation. To achieve more accurate document clustering, more informative features including concept weight are important. Feature Selection is important for clustering process because some of the irrelevant or redundant feature may misguide the clustering results. To counteract this issue, the proposed system presents the concept weight for text clustering system developed based on a k-means algorithm in accordance with the principles of ontology so that the important of words of a cluster can be identified by the weight values. To a certain extent, it has resolved the semantic problem in specific areas.

Keywords: Clustering, Concept Weight, Document clustering, Feature Selection, Ontology

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Authors: I. Nassiri, B. Goliaei, M. Tavassoli

Abstract:

The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the databases. For this order, the effects of new missense mutations in exon 5 of PTEN gene upon protein structure and function were examined. The gene coding for PTEN was identified and localized on chromosome region 10q23.3 as the tumor suppressor gene. The utilization of these methods were shown that c.319G>A and c.341T>G missense mutations that were recognized in patients with breast cancer and Cowden disease, could be pathogenic. This method could be use for analysis of missense mutation in others genes.

Keywords: Bioinformatics, missense mutations, PTEN tumorsuppressor gene.

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Authors: T. Chandrasekhar, K. Thangavel, E. N. Sathishkumar

Abstract:

Microarrays are made it possible to simultaneously monitor the expression profiles of thousands of genes under various experimental conditions. It is used to identify the co-expressed genes in specific cells or tissues that are actively used to make proteins. This method is used to analysis the gene expression, an important task in bioinformatics research. Cluster analysis of gene expression data has proved to be a useful tool for identifying co-expressed genes, biologically relevant groupings of genes and samples. In this work K-Means algorithms has been applied for clustering of Gene Expression Data. Further, rough set based Quick reduct algorithm has been applied for each cluster in order to select the most similar genes having high correlation. Then the ACV measure is used to evaluate the refined clusters and classification is used to evaluate the proposed method. They could identify compact clusters with feature selection method used to genes are selected.

Keywords: Clustering, Feature selection, Gene expression data, Quick reduct.

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Authors: Omid Sharifi, Member, ACM, Zeki Bayram, Member, ACM

Abstract:

We demonstrate through a sample application, Ebanking, that the Web Service Modelling Language Ontology component can be used as a very powerful object-oriented database design language with logic capabilities. Its conceptual syntax allows the definition of class hierarchies, and logic syntax allows the definition of constraints in the database. Relations, which are available for modelling relations of three or more concepts, can be connected to logical expressions, allowing the implicit specification of database content. Using a reasoning tool, logic queries can also be made against the database in simulation mode.

Keywords: Semantic web, ontology, E-banking, database, WSML, WSMO, E-R diagram.

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Authors: Sarah Motiee, Azadeh Nematzadeh, Mehrnoush Shamsfard

Abstract:

Increasing growth of information volume in the internet causes an increasing need to develop new (semi)automatic methods for retrieval of documents and ranking them according to their relevance to the user query. In this paper, after a brief review on ranking models, a new ontology based approach for ranking HTML documents is proposed and evaluated in various circumstances. Our approach is a combination of conceptual, statistical and linguistic methods. This combination reserves the precision of ranking without loosing the speed. Our approach exploits natural language processing techniques to extract phrases from documents and the query and doing stemming on words. Then an ontology based conceptual method will be used to annotate documents and expand the query. To expand a query the spread activation algorithm is improved so that the expansion can be done flexible and in various aspects. The annotated documents and the expanded query will be processed to compute the relevance degree exploiting statistical methods. The outstanding features of our approach are (1) combining conceptual, statistical and linguistic features of documents, (2) expanding the query with its related concepts before comparing to documents, (3) extracting and using both words and phrases to compute relevance degree, (4) improving the spread activation algorithm to do the expansion based on weighted combination of different conceptual relationships and (5) allowing variable document vector dimensions. A ranking system called ORank is developed to implement and test the proposed model. The test results will be included at the end of the paper.

Keywords: Document ranking, Ontology, Spread activation algorithm, Annotation.

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Authors: T. Slimani, B. Ben Yaghlane, K. Mellouli

Abstract:

In the field of concepts, the measure of Wu and Palmer [1] has the advantage of being simple to implement and have good performances compared to the other similarity measures [2]. Nevertheless, the Wu and Palmer measure present the following disadvantage: in some situations, the similarity of two elements of an IS-A ontology contained in the neighborhood exceeds the similarity value of two elements contained in the same hierarchy. This situation is inadequate within the information retrieval framework. To overcome this problem, we propose a new similarity measure based on the Wu and Palmer measure. Our objective is to obtain realistic results for concepts not located in the same way. The obtained results show that compared to the Wu and Palmer approach, our measure presents a profit in terms of relevance and execution time.

Keywords: Hierarchy, IS-A ontology, Semantic Web, Similarity Measure.

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Authors: M. Anandhavalli Gauthaman

Abstract:

DNA microarrays allow the measurement of expression levels for a large number of genes, perhaps all genes of an organism, within a number of different experimental samples. It is very much important to extract biologically meaningful information from this huge amount of expression data to know the current state of the cell because most cellular processes are regulated by changes in gene expression. Association rule mining techniques are helpful to find association relationship between genes. Numerous association rule mining algorithms have been developed to analyze and associate this huge amount of gene expression data. This paper focuses on some of the popular association rule mining algorithms developed to analyze gene expression data.

Keywords: DNA microarray, gene expression, association rule mining.

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Authors: Mehrnoush Shamsfard, Azadeh Nematzadeh, Sarah Motiee

Abstract:

Increasing growth of information volume in the internet causes an increasing need to develop new (semi)automatic methods for retrieval of documents and ranking them according to their relevance to the user query. In this paper, after a brief review on ranking models, a new ontology based approach for ranking HTML documents is proposed and evaluated in various circumstances. Our approach is a combination of conceptual, statistical and linguistic methods. This combination reserves the precision of ranking without loosing the speed. Our approach exploits natural language processing techniques for extracting phrases and stemming words. Then an ontology based conceptual method will be used to annotate documents and expand the query. To expand a query the spread activation algorithm is improved so that the expansion can be done in various aspects. The annotated documents and the expanded query will be processed to compute the relevance degree exploiting statistical methods. The outstanding features of our approach are (1) combining conceptual, statistical and linguistic features of documents, (2) expanding the query with its related concepts before comparing to documents, (3) extracting and using both words and phrases to compute relevance degree, (4) improving the spread activation algorithm to do the expansion based on weighted combination of different conceptual relationships and (5) allowing variable document vector dimensions. A ranking system called ORank is developed to implement and test the proposed model. The test results will be included at the end of the paper.

Keywords: Document ranking, Ontology, Spread activation algorithm, Annotation.

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Authors: Ahmed Arara

Abstract:

Information sharing and exchange, rather than information processing, is what characterizes information technology in the 21st century. Ontologies, as shared common understanding, gain increasing attention, as they appear as the most promising solution to enable information sharing both at a semantic level and in a machine-processable way. Domain Ontology-based modeling has been exploited to provide shareability and information exchange among diversified, heterogeneous applications of enterprises. Contextual ontologies are “an explicit specification of contextual conceptualization". That is: ontology is characterized by concepts that have multiple representations and they may exist in several contexts. Hence, contextual ontologies are a set of concepts and relationships, which are seen from different perspectives. Contextualization is to allow for ontologies to be partitioned according to their contexts. The need for contextual ontologies in enterprise modeling has become crucial due to the nature of today's competitive market. Information resources in enterprise is distributed and diversified and is in need to be shared and communicated locally through the intranet and globally though the internet. This paper discusses the roles that ontologies play in an enterprise modeling, and how ontologies assist in building a conceptual model in order to provide communicative and interoperable information systems. The issue of enterprise modeling based on contextual domain ontology is also investigated, and a framework is proposed for an enterprise model that consists of various applications.

Keywords: Contextual ontologies, Enterprise model, domainontology.

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Authors: Kanso Hassan, Elhore Ali, Soule-dupuy Chantal, Tazi Said

Abstract:

Information Retrieval has the objective of studying models and the realization of systems allowing a user to find the relevant documents adapted to his need of information. The information search is a problem which remains difficult because the difficulty in the representing and to treat the natural languages such as polysemia. Intentional Structures promise to be a new paradigm to extend the existing documents structures and to enhance the different phases of documents process such as creation, editing, search and retrieval. The intention recognition of the author-s of texts can reduce the largeness of this problem. In this article, we present intentions recognition system is based on a semi-automatic method of extraction the intentional information starting from a corpus of text. This system is also able to update the ontology of intentions for the enrichment of the knowledge base containing all possible intentions of a domain. This approach uses the construction of a semi-formal ontology which considered as the conceptualization of the intentional information contained in a text. An experiments on scientific publications in the field of computer science was considered to validate this approach.

Keywords: Information research, text analyzes, intentionalstructure, segmentation, ontology, natural language processing.

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Authors: Widad Jakjoud, Mohamed Bahaj, Jamal Bakkas

Abstract:

Through this paper we present a method for automatic generation of ontological model from any data source using Model Driven Architecture (MDA), this generation is dedicated to the cooperation of the knowledge engineering and software engineering. Indeed, reverse engineering of a data source generates a software model (schema of data) that will undergo transformations to generate the ontological model. This method uses the meta-models to validate software and ontological models.

Keywords: Meta model, model, ontology, data source.

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Authors: Seo Young Kim, Toshimitsu Hamasaki

Abstract:

Microarrays have become the effective, broadly used tools in biological and medical research to address a wide range of problems, including classification of disease subtypes and tumors. Many statistical methods are available for analyzing and systematizing these complex data into meaningful information, and one of the main goals in analyzing gene expression data is the detection of samples or genes with similar expression patterns. In this paper, we express and compare the performance of several clustering methods based on data preprocessing including strategies of normalization or noise clearness. We also evaluate each of these clustering methods with validation measures for both simulated data and real gene expression data. Consequently, clustering methods which are common used in microarray data analysis are affected by normalization and degree of noise and clearness for datasets.

Keywords: Gene expression, clustering, data preprocessing.

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Authors: M. Pandi, K. Premalatha

Abstract:

A DNA microarray technology is a collection of microscopic DNA spots attached to a solid surface. Scientists use DNA microarrays to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome. Elucidating the patterns hidden in gene expression data offers a tremendous opportunity for an enhanced understanding of functional genomics. However, the large number of genes and the complexity of biological networks greatly increase the challenges of comprehending and interpreting the resulting mass of data, which often consists of millions of measurements. It is handled by clustering which reveals the natural structures and identifying the interesting patterns in the underlying data. In this paper, gene based clustering in gene expression data is proposed using Cuckoo Search with Differential Evolution (CS-DE). The experiment results are analyzed with gene expression benchmark datasets. The results show that CS-DE outperforms CS in benchmark datasets. To find the validation of the clustering results, this work is tested with one internal and one external cluster validation indexes.

Keywords: DNA, Microarray, genomics, Cuckoo Search, Differential Evolution, Gene expression data, Clustering.

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Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

Abstract:

Dilated cardiomyopathy (DCM) is a severe cardiovascular disorder characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility often leading to chronic heart failure. Recently, a genome-wide association studies (GWASs) on DCM indicate that the ZBTB17 gene rs10927875 single nucleotide polymorphism is associated with DCM. The aim of the study was to identify the distribution of ZBTB17 gene rs10927875 polymorphism in 50 Slovak patients with DCM and 80 healthy control subjects using the Custom Taqman®SNP Genotyping assays. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. The mean age of patients with DCM was 52.9±6.3 years; the mean age of individuals in control group was 50.3±8.9 years. The distribution of investigated genotypes of rs10927875 polymorphism within ZBTB17 gene in the cohort of Slovak patients with DCM was as follows: CC (38.8%), CT (55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT (5.0%). The risk allele T was more common among the patients with dilated cardiomyopathy than in normal controls (33.7% versus 30.6%). The differences in genotype or allele frequencies of ZBTB17 gene rs10927875 polymorphism were not statistically significant (p=0.6908; p=0.6098). The results of this study suggest that ZBTB17 gene rs10927875 polymorphism may be a risk factor for susceptibility to DCM in Slovak patients with DCM. Studies of numerous files and additional functional investigations are needed to fully understand the roles of genetic associations.

Keywords: Dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene.

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Authors: N. Hussain, G. Jaffery, A.N. Sabri, S. Hasnain

Abstract:

The main aim is to perform mutational analysis of CTLA4 gene Exon 1 in SLE patients. A total of 61 SLE patients fulfilling “American College of Rheumatology (ACR) criteria" and 61 controls were enrolled in this study. The region of CTLA4 gene exon 1 was amplified by using Step-down PCR technique. Extracted DNA of band 354 bp was sequenced to analyze mutations in the exon-1 of CTLA-4 gene. Further, protein sequences were identified from nucleotide sequences of CTLA4 Exon 1 by using Expasy software and through Blast P software it was found that CTLA4 protein sequences of Pakistani SLE patients were similar to that of Chinese SLE population. No variations were found after patients sequences were compared with that of the control sequence. Furthermore it was found that CTLA4 protein sequences of Pakistani SLE patients were similar to that of Chinese SLE population. Thus CTLA4 gene may not be responsible for an autoimmune disease SLE.

Keywords: American College of Rheumatology criteria, autoimmune disease, Cytotoxic T Lymphocyte Antigen-4, Polymerase Chain Reaction, Systemic Lupus Erythematosus

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Authors: S. Logeswari, K. Premalatha

Abstract:

Search is the most obvious application of information retrieval. The variety of widely obtainable biomedical data is enormous and is expanding fast. This expansion makes the existing techniques are not enough to extract the most interesting patterns from the collection as per the user requirement. Recent researches are concentrating more on semantic based searching than the traditional term based searches. Algorithms for semantic searches are implemented based on the relations exist between the words of the documents. Ontologies are used as domain knowledge for identifying the semantic relations as well as to structure the data for effective information retrieval. Annotation of data with concepts of ontology is one of the wide-ranging practices for clustering the documents. In this paper, indexing based on concept and annotation are proposed for clustering the biomedical documents. Fuzzy c-means (FCM) clustering algorithm is used to cluster the documents. The performances of the proposed methods are analyzed with traditional term based clustering for PubMed articles in five different diseases communities. The experimental results show that the proposed methods outperform the term based fuzzy clustering.

Keywords: MeSH Ontology, Concept Indexing, Annotation, semantic relations, Fuzzy c-means.

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Authors: Rozilawati Binti Dollah, Masaki Aono

Abstract:

Classifying biomedical literature is a difficult and challenging task, especially when a large number of biomedical articles should be organized into a hierarchical structure. In this paper, we present an approach for classifying a collection of biomedical text abstracts downloaded from Medline database with the help of ontology alignment. To accomplish our goal, we construct two types of hierarchies, the OHSUMED disease hierarchy and the Medline abstract disease hierarchies from the OHSUMED dataset and the Medline abstracts, respectively. Then, we enrich the OHSUMED disease hierarchy before adapting it to ontology alignment process for finding probable concepts or categories. Subsequently, we compute the cosine similarity between the vector in probable concepts (in the “enriched" OHSUMED disease hierarchy) and the vector in Medline abstract disease hierarchies. Finally, we assign category to the new Medline abstracts based on the similarity score. The results obtained from the experiments show the performance of our proposed approach for hierarchical classification is slightly better than the performance of the multi-class flat classification.

Keywords: Biomedical literature, hierarchical text classification, ontology alignment, text mining.

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