Search results for: gene ontology

Authors: Hamid Mustafa, Adeela Ajmal, Kim EuiSoo, Noor-ul-Ain

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World wild, buffalo production is considered as most important component of food industry. Efficient buffalo production is related with reproductive performance of this species. Lack of knowledge of reproductive efficiency and its related genes in buffalo species is a major constraint for sustainable buffalo production. In this study, we performed some bioinformatics analysis on Follicle Stimulating Hormone Receptor (FSHR) gene and explored the possible relationship of this gene among different buffalo breeds and with other farm animals. We also found the evolution pattern for this gene among these species. We investigate CDS lengths, Stop codon variation, homology search, signal peptide, isoelectic point, tertiary structure, motifs and phylogenetic tree. The results of this study indicate 4 different motif in this gene, which are Activin-recp, GS motif, STYKc Protein kinase and transmembrane. The results also indicate that this gene has very close relationship with cattle, bison, sheep and goat. Multiple alignment (MA) showed high conservation of motif which indicates constancy of this gene during evolution. The results of this study can be used and applied for better understanding of this gene for better characterization of Follicle Stimulating Hormone Receptor (FSHR) gene structure in different farm animals, which would be helpful for efficient breeding plans for animal’s production.

Keywords: buffalo, FSHR gene, bioinformatics, production

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Authors: Yu Hung Chiang, Hei Chia Wang

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In the academic area, it is important for research to find proper research domain. Many researchers may refer to conference issues to find their interesting or new topics. Furthermore, conferences issues can help researchers realize current research trends in their field and learn about cutting-edge developments in their specialty. However, online published conference information may widely be distributed; it is not easy to be concluded. Many researchers use search engine of journals or conference issues to filter information in order to get what they want. However, this search engine has its limitation. There will still be some issues should be considered; i.e. researchers cannot find the associated topics which may be useful information for them. Hence, use Knowledge Management (KM) could be a way to resolve these issues. In KM, ontology is widely adopted; but most existed ontology construction methods do not consider social information between target users. To effective in academic KM, this study proposes a method of constructing research Topic Maps using Open Directory Project (ODP) and Social Information Processing (SIP). Through catching of social information in conference website: i.e. the information of co-authorship or collaborator, research topics can be associated among related researchers. Finally, the experiments show Topic Maps successfully help researchers to find the information they need more easily and quickly as well as construct associations between research topics.

Keywords: knowledge management, topic map, social information processing, ontology extraction

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Authors: Rihab Idoudi, Karim Saheb Ettabaa, Basel Solaiman, Kamel Hamrouni

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Medical association rules induction is used to discover useful correlations between pertinent concepts from large medical databases. Nevertheless, ARs algorithms produce huge amount of delivered rules and do not guarantee the usefulness and interestingness of the generated knowledge. To overcome this drawback, we propose an ontology based interestingness measure for ARs ranking. According to domain expert, the goal of the use of ARs is to discover implicit relationships between items of different categories such as ‘clinical features and disorders’, ‘clinical features and radiological observations’, etc. That’s to say, the itemsets which are composed of ‘similar’ items are uninteresting. Therefore, the dissimilarity between the rule’s items can be used to judge the interestingness of association rules; the more different are the items, the more interesting the rule is. In this paper, we design a distinct approach for ranking semantically interesting association rules involving the use of an ontology knowledge mining approach. The basic idea is to organize the ontology’s concepts into a hierarchical structure of conceptual clusters of targeted subjects, where each cluster encapsulates ‘similar’ concepts suggesting a specific category of the domain knowledge. The interestingness of association rules is, then, defined as the dissimilarity between corresponding clusters. That is to say, the further are the clusters of the items in the AR, the more interesting the rule is. We apply the method in our domain of interest – mammographic domain- using an existing mammographic ontology called Mammo with the goal of deriving interesting rules from past experiences, to discover implicit relationships between concepts modeling the domain.

Keywords: association rule, conceptual clusters, interestingness measures, ontology knowledge mining, ranking

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Authors: Edlira Kalemi, Sule Yildirim-Yayilgan

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Online Social Networks (OSNs) are nowadays being used widely and intensively for crime investigation and prevention activities. As they provide a lot of information they are used by the law enforcement and intelligence. An extensive review on existing solutions and models for collecting intelligence from this source of information and making use of it for solving crimes has been presented in this article. The main focus is on smart solutions and models where ontologies have been used as the main approach for representing criminal domain knowledge. A framework for a prototype ontology named SC-Ont will be described. This defines terms of the criminal domain ontology and the relations between them. The terms and the relations are extracted during both this review and the discussions carried out with domain experts. The development of SC-Ont is still ongoing work, where in this paper, we report mainly on the motivation for using smart ontology models and the possible benefits of using them for solving crimes.

Keywords: criminal digital evidence, social media, ontologies, reasoning

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Authors: Shahram Nanekarania, Majid Goodarzia

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Calpastatin and callipyge have been known as one of the candidate genes in meat quality and quantity. Calpastatin gene has been located to chromosome 5 of sheep and callipyge gene has been localized in the telomeric region on ovine chromosome 18. The objective of this study was identification of calpastatin and callipyge genes polymorphism and analysis of genotype structure in population of Lori sheep kept in Iran. Blood samples were taken from 120 Lori sheep breed and genomic DNA was extracted by salting out method. Polymorphism was identified using the PCR-RFLP technique. The PCR products were digested with MspI and FaqI restriction enzymes for calpastatin gene and callipyge gene, respectively. In this population, three patterns were observed and AA, AB, BB genotype have been identified with the 0.32, 0.63, 0.05 frequencies for calpastatin gene. The results obtained for the callipyge gene revealed that only the wild-type allele A was observed, indicating that only genotype AA was present in the population under consideration.

Keywords: polymorphism, calpastatin, callipyge, PCR-RFLP, Lori sheep

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Authors: Jiaqi Yan, Yani Shi

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The blockchain technology is regarded as the most promising technology that has the potential to trigger a technological revolution. However, besides the bitcoin industry, we have not yet seen a large-scale application of blockchain in those domains that are supposed to be impacted, such as supply chain, financial network, and intelligent manufacturing. The reasons not only lie in the difficulties of blockchain implementation, but are also root in the challenges of blockchain-oriented information systems design. As the blockchain members are self-interest actors that belong to organizations with different existing information systems. As they expect different information inputs and outputs of the blockchain application, a common language protocol is needed to facilitate communications between blockchain members. Second, considering the decentralization of blockchain organization, there is not any central authority to organize and coordinate the business processes. Thus, the information systems built on blockchain should support more adaptive business process. This paper aims to address these difficulties by providing a modeling approach for blockchain-oriented information systems design. We will investigate the information structure of distributed-ledger data with conceptual modeling techniques and ontology theories, and build an effective ontology mapping method for the inter-organization information flow and blockchain information records. Further, we will study the distributed-ledger-ontology based business process modeling to support adaptive enterprise on blockchain.

Keywords: blockchain, ontology, information systems modeling, business process

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

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As the quantity of biological articles rises, so does the number of biological route figures. Each route figure shows gene names and relationships. Annotating pathway diagrams manually 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

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Authors: Sanaa Rashed Abdallah, Yasser F. Hassan

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The paper will introduce an approach where a rough sets, gene expression programming and rough neural networks are used cooperatively for learning and classification support. The Objective of gene expression programming rough neural networks (GEP-RNN) approach is to obtain new classified data with minimum error in training and testing process. Starting point of gene expression programming rough neural networks (GEP-RNN) approach is an information system and the output from this approach is a structure of rough neural networks which is including the weights and thresholds with minimum classification error.

Keywords: rough sets, gene expression programming, rough neural networks, classification

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Authors: Purnomo Yustianto, Robin Doss

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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: Bernard Igoche Igoche, Olumuyiwa Matthew, Peter Bednar, Alexander Gegov

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This study presents an ontology-driven approach for knowledge discovery and validation from admission databases in Nigerian polytechnic institutions. The research aims to address the challenges of extracting meaningful insights from vast amounts of admission data and utilizing them for decision-making and process improvement. The proposed methodology combines the knowledge discovery in databases (KDD) process with a structural causal model (SCM) ontological framework. The admission database of Benue State Polytechnic Ugbokolo (Benpoly) is used as a case study. The KDD process is employed to mine and distill knowledge from the database, while the SCM ontology is designed to identify and validate the important features of the admission process. The SCM validation is performed using the conditional independence test (CIT) criteria, and an algorithm is developed to implement the validation process. The identified features are then used for machine learning (ML) modeling and prediction of admission status. The results demonstrate the adequacy of the SCM ontological framework in representing the admission process and the high predictive accuracies achieved by the ML models, with k-nearest neighbors (KNN) and support vector machine (SVM) achieving 92% accuracy. The study concludes that the proposed ontology-driven approach contributes to the advancement of educational data mining and provides a foundation for future research in this domain.

Keywords: admission databases, educational data mining, machine learning, ontology-driven knowledge discovery, polytechnic education, structural causal model

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Authors: Ahmed Tawfik, Fausto Giunchiglia, Vincenzo Maltese

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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: Yudi Zhao, Ziyun Zhou, Yueting Yao, Shuying Dai, Zhiling Yan, Longyu Yang, Chuanyin Li, Li Shi, Yufeng Yao

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HPV16 E4 gene plays an important role in viral genome amplification and release. Therefore, a variation of the E4 gene nucleic acid sequence may affect the carcinogenicity of HPV16. In order to understand the relationship between the variation of HPV16 E4 gene and cervical cancer, this study was to amplify and sequence the DNA sequences of E4 genes in 118 HPV16-positive cervical cancer patients and 151 HPV16-positive asymptomatic individuals. After obtaining E4 gene sequences, the phylogenetic trees were constructed by the Neighbor-joining method for gene variation analysis. The results showed that: 1) The distribution of HPV16 variants between the case group and the control group differed greatly (P = 0.015)，and the Asian-American（AA）variant was likely to relate to the occurrence of cervical cancer. 2) DNA sequence analysis showed that there were significant differences in the distribution of 8 variants between the case group and the control group (P < 0.05). And 3) In European (EUR) variant, two variations, C3384T (L18L) and A3449G (P39P), were associated with the initiation and development of cervical cancer. The results suggested that the variation of HPV16 E4 gene may be a contributor affecting the occurrence as well as the development of cervical cancer, and different HPV16 variants may have different carcinogenic capability.

Keywords: cervical cancer, HPV16, E4 gene, variations

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Authors: Mahsa Taghavi

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In the treatment of breast cancer, tamoxifen is a regularly prescribed medication. The effect of tamoxifen on breast cancer patients' EMT pathways was studied. In this study to see if it had any effect on the cancer cells' resistance to tamoxifen and to look for specific miRNAs associated with EMT. In this work, we used continuous and integrated bioinformatics analysis to choose the optimal GEO datasets. Once we had sorted the gene expression profile, we looked at the mechanism of signaling, the ontology of genes, and the protein interaction of each gene. In the end, we used the GEPIA database to confirm the candidate genes. after that, I investigated critical miRNAs related to candidate genes. There were two gene expression profiles that were categorized into two distinct groups. Using the expression profile of genes that were lowered in the EMT pathway, the first group was examined. The second group represented the polar opposite of the first. A total of 253 genes from the first group and 302 genes from the second group were found to be common. Several genes in the first category were linked to cell death, focal adhesion, and cellular aging. Two genes in the second group were linked to cell death, focal adhesion, and cellular aging. distinct cell cycle stages were observed. Finally, proteins such as MYLK, SOCS3, and STAT5B from the first group and BIRC5, PLK1, and RAPGAP1 from the second group were selected as potential candidates linked to tamoxifen's influence on the EMT pathway. hsa-miR-1204 and hsa-miR-639 have a very close relationship with the candidates genes according to the node degrees and betweenness index. With this, the action of tamoxifen on the EMT pathway was better understood. It's important to learn more about how tamoxifen's target genes and proteins work so that we can better understand the drug.

Keywords: tamoxifen, breast cancer, bioinformatics analysis, EMT, miRNAs

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Authors: Yi-Hao Wong, Li-Li Chan, Chee-Onn Leong, Stephen Ambu, Joon-Wah Mak, Priyasashi Sahu

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Background: Acanthamoeba is a genus of amoebae which lives as a free-living in nature or as a human pathogen that causes severe brain and eye infections. Virulence potential of Acanthamoeba is not constant and can change with growth conditions. DNA methylation, an epigenetic process which adds methyl groups to DNA, is used by eukaryotic cells, including several human parasites to control their gene expression. We used qPCR, siRNA gene silencing, and RNA sequencing (RNA-Seq) to study DNA-methyltransferase gene family (DNMT) in order to indicate the possibility of its involvement in programming Acanthamoeba virulence potential. Methods: A virulence-attenuated Acanthamoeba isolate (designation: ATCC; original isolate: ATCC 50492) was subjected to mouse passages to restore its pathogenicity; a virulence-reactivated isolate (designation: AC/5) was generated. Several established factors associated with Acanthamoeba virulence phenotype were examined to confirm the succession of reactivation process. Differential gene expression of DNMT between ATCC and AC/5 isolates was performed by qPCR. Silencing on DNMT gene expression in AC/5 isolate was achieved by siRNA duplex. Total RNAs extracted from ATCC, AC/5, and siRNA-treated (designation: si-146) were subjected to RNA-Seq for comparative transcriptomic analysis in order to identify the genome-wide effect of DNMT in regulating Acanthamoeba gene expression. qPCR was performed to validate the RNA-Seq results. Results: Physiological and cytophatic assays demonstrated an increased in virulence potential of AC/5 isolate after mouse passages. DNMT gene expression was significantly higher in AC/5 compared to ATCC isolate (p ≤ 0.01) by qPCR. si-146 duplex reduced DNMT gene expression in AC/5 isolate by 30%. Comparative transcriptome analysis identified the differentially expressed genes, with 3768 genes in AC/5 vs ATCC isolate; 2102 genes in si-146 vs AC/5 isolate and 3422 genes in si-146 vs ATCC isolate, respectively (fold-change of ≥ 2 or ≤ 0.5, p-value adjusted (padj) < 0.05). Of these, 840 and 1262 genes were upregulated and downregulated, respectively, in si-146 vs AC/5 isolate. Eukaryotic orthologous group (KOG) assignments revealed a higher percentage of downregulated gene expression in si-146 compared to AC/5 isolate, were related to posttranslational modification, signal transduction and energy production. Gene Ontology (GO) terms for those downregulated genes shown were associated with transport activity, oxidation-reduction process, and metabolic process. Among these downregulated genes were putative genes encoded for heat shock proteins, transporters, ubiquitin-related proteins, proteins for vesicular trafficking (small GTPases), and oxidoreductases. Functional analysis of similar predicted proteins had been described in other parasitic protozoa for their survival and pathogenicity. Decreased expression of these genes in si146-treated isolate may account in part for Acanthamoeba reduced pathogenicity. qPCR on 6 selected genes upregulated in AC/5 compared to ATCC isolate corroborated the RNA sequencing findings, indicating a good concordance between these two analyses. Conclusion: To the best of our knowledge, this study represents the first genome-wide analysis of DNA methylation and its effects on gene expression in Acanthamoeba spp. The present data indicate that DNA methylation has substantial effect on global gene expression, allowing further dissection of the genome-wide effects of DNA-methyltransferase gene in regulating Acanthamoeba pathogenicity.

Keywords: Acanthamoeba, DNA methylation, RNA sequencing, virulence

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Authors: Shaila Rana, Wasim Alhamdani

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Effective cybersecurity learning relies on an engaging, interactive, and entertaining activity that fosters positive learning outcomes. VR cybersecurity training may promote these aforementioned variables. However, a methodological approach and framework have not yet been created to allow trainers and educators to employ VR cybersecurity training methods to promote positive learning outcomes to the author’s best knowledge. Thus, this paper aims to create an approach that cybersecurity trainers can follow to create a VR cybersecurity training module. This methodology utilizes concepts from other cybersecurity training frameworks, such as NICE and CyTrONE. Other cybersecurity training frameworks do not incorporate the use of VR. VR training proposes unique challenges that cannot be addressed in current cybersecurity training frameworks. Subsequently, this ontology utilizes concepts unique to developing VR training to create a relevant methodology for creating VR cybersecurity training modules. The outcome of this research is to create a methodology that is relevant and useful for designing VR cybersecurity training modules.

Keywords: virtual reality cybersecurity training, VR cybersecurity training, traditional cybersecurity training, ontology

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

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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, T245G polymorphism, osteoporosis, T245G polymorphism, real-time PCR

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Authors: Ankan Roy, Niharika, Samir Kumar Patra

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Anomalous nexus of complex topological assemblies and spatiotemporal epigenetic choreography at chromosomal territory may forms the most sophisticated regulatory layer of gene expression in cancer. Colon cancer is one of the leading malignant neoplasms of the lower gastrointestinal tract worldwide. There is still a paucity of information about the complex molecular mechanisms of colonic cancerogenesis. Bioinformatics prediction and analysis helps to identify essential genes and significant pathways for monitoring and conquering this deadly disease. The present study investigates and explores potential hub genes as biomarkers and effective therapeutic targets for colon cancer treatment. Colon cancer patient sample containing gene expression profile datasets, such as GSE44076, GSE20916, and GSE37364 were downloaded from Gene Expression Omnibus (GEO) database and thoroughly screened using the GEO2R tool and Funrich software to find out common 2 differentially expressed genes (DEGs). Other approaches, including Gene Ontology (GO) and KEGG pathway analysis, Protein-Protein Interaction (PPI) network construction and hub gene investigation, Overall Survival (OS) analysis, gene correlation analysis, methylation pattern analysis, and hub gene-Transcription factors regulatory network construction, were performed and validated using various bioinformatics tool. Initially, we identified 166 DEGs, including 68 up-regulated and 98 down-regulated genes. Up-regulated genes are mainly associated with the Cytokine-cytokine receptor interaction, IL17 signaling pathway, ECM-receptor interaction, Focal adhesion and PI3K-Akt pathway. Downregulated genes are enriched in metabolic pathways, retinol metabolism, Steroid hormone biosynthesis, and bile secretion. From the protein-protein interaction network, thirty hub genes with high connectivity are selected using the MCODE and cytoHubba plugin. Survival analysis, expression validation, correlation analysis, and methylation pattern analysis were further verified using TCGA data. Finally, we predicted COL1A1, COL1A2, COL4A1, SPP1, SPARC, and THBS2 as potential master regulators in colonic cancerogenesis. Moreover, our experimental data highlights that disruption of lipid raft and RAS/MAPK signaling cascade affects this gene hub at mRNA level. We identified COL1A1, COL1A2, COL4A1, SPP1, SPARC, and THBS2 as determinant hub genes in colon cancer progression. They can be considered as biomarkers for diagnosis and promising therapeutic targets in colon cancer treatment. Additionally, our experimental data advertise that signaling pathway act as connecting link between membrane hub and gene hub.

Keywords: hub genes, colon cancer, DNA methylation, epigenetic engineering, bioinformatic predictions

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Authors: Tiancheng Lan

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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: Mhaned Oubounyt, Jan Baumbach

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Differences in co-expression networks between two or multiple cells (sub)types across conditions is a pressing problem in single-cell RNA sequencing (scRNA-seq). A key challenge is to define those co-variations that differ between or among cell types and/or conditions and phenotypes to examine small regulatory networks that can explain mechanistic differences. To this end, we developed SCANet, an all-in-one Python package that uses state-of-the-art algorithms to facilitate the workflow of a combined single-cell GCN (Gene Correlation Network) and GRN (Gene Regulatory Networks) pipeline, including inference of gene co-expression modules from scRNA-seq, followed by trait and cell type associations, hub gene detection, co-regulatory networks, and drug-gene interactions. In an example case, we illustrate how SCANet can be applied to identify regulatory drivers behind a cytokine storm associated with mortality in patients with acute respiratory illness. SCANet is available as a free, open-source, and user-friendly Python package that can be easily integrated into systems biology pipelines.

Keywords: single-cell, co-expression networks, drug-gene interactions, co-regulatory networks

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Authors: Sanjeev Kumar Shukla, Govind Singh, Prabhat Pant Shahzad Ahmad

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Background: Graves’ disease is an autoimmune disorder with a genetic predisposition, and CD40 plays a pathogenic role in various autoimmune diseases. A single nucleotide polymorphism at position –1 of the Kozak sequence of the 5 untranslated regions of the CD40 gene of exon 1 has been reported to be associated with the development of Graves’ Disease. Objective: The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to Graves’ disease in the Kumaon region. CD40 gene polymorphisms were studied in Graves’ Disease patients (n=50) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n=50). Material and Method: CD40 gene polymorphisms were studied in fifty Graves’ Disease patients and fifty healthy control subjects. All samples were collected from STG Hospital, Haldwani, Nainital. A C/T polymorphism at position –1 of the CD40 gene was measured using the polymerase chain reaction-restriction fragment length polymorphism. Results: There was no significant difference in allele or genotype frequency of the CD40 SNP between Graves’ Disease and control subjects. There was a significant decrease in the TT genotype frequency in the Graves’ Disease patients who developed Graves’ Disease after 40 years old than those under 40 years of age. These data suggest that the SNP of the CD40 gene is associated with susceptibility to the later onset of Graves’ Disease. Conclusion: The CD40 gene was a different susceptibility gene for Graves’ Disease within certain families because it was both linked and associated with Graves’ Disease.

Keywords: autoimmune diseases, pathogenesis, diagnosis, therapy

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Authors: Mansir Abubakar, Hazlina Hamdan, Norwati Mustapha, Teh Noranis Mohd Aris

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In order to build a matching pattern for each class correspondences of ontology, it is required to specify a set of attribute correspondences across two corresponding classes by clustering. Clustering reduces the size of potential attribute correspondences considered in the matching activity, which will significantly reduce the computation workload; otherwise, all attributes of a class should be compared with all attributes of the corresponding class. Most existing ontology matching approaches lack scalable attributes discovery methods, such as cluster-based attribute searching. This problem makes ontology matching activity computationally expensive. It is therefore vital in ontology matching to design a scalable element or attribute correspondence discovery method that would reduce the size of potential elements correspondences during mapping thereby reduce the computational workload in a matching process as a whole. The objective of this work is 1) to design a clustering method for discovering similar attributes correspondences and relationships between ontologies, 2) to discover element correspondences by classifying elements of each class based on element’s value features using K-medoids clustering technique. Discovering attribute correspondence is highly required for comparing instances when matching two ontologies. During the matching process, any two instances across two different data sets should be compared to their attribute values, so that they can be regarded to be the same or not. Intuitively, any two instances that come from classes across which there is a class correspondence are likely to be identical to each other. Besides, any two instances that hold more similar attribute values are more likely to be matched than the ones with less similar attribute values. Most of the time, similar attribute values exist in the two instances across which there is an attribute correspondence. This work will present how to classify attributes of each class with K-medoids clustering, then, clustered groups to be mapped by their statistical value features. We will also show how to map attributes of a clustered group to attributes of the mapped clustered group, generating a set of potential attribute correspondences that would be applied to generate a matching pattern. The K-medoids clustering phase would largely reduce the number of attribute pairs that are not corresponding for comparing instances as only the coverage probability of attributes pairs that reaches 100% and attributes above the specified threshold can be considered as potential attributes for a matching. Using clustering will reduce the size of potential elements correspondences to be considered during mapping activity, which will in turn reduce the computational workload significantly. Otherwise, all element of the class in source ontology have to be compared with all elements of the corresponding classes in target ontology. K-medoids can ably cluster attributes of each class, so that a proportion of attribute pairs that are not corresponding would not be considered when constructing the matching pattern.

Keywords: attribute correspondence, clustering, computational workload, k-medoids clustering, ontology matching

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Authors: Ki-Yeo Kim

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Trends in genetics are transforming in order to identify differential coexpressions of correlated gene expression rather than the significant individual gene. Moreover, it is known that a combined biomarker pattern improves the discrimination of a specific cancer. The identification of the combined biomarker is also necessary for the early detection of invasive oral squamous cell carcinoma (OSCC). To identify the combined biomarker that could improve the discrimination of OSCC, we explored an appropriate number of genes in a combined gene set in order to attain the highest level of accuracy. After detecting a significant gene set, including the pre-defined number of genes, a combined expression was identified using the weights of genes in a gene set. We used the Principal Component Analysis (PCA) for the weight calculation. In this process, we used three public microarray datasets. One dataset was used for identifying the combined biomarker, and the other two datasets were used for validation. The discrimination accuracy was measured by the out-of-bag (OOB) error. There was no relation between the significance and the discrimination accuracy in each individual gene. The identified gene set included both significant and insignificant genes. One of the most significant gene sets in the classification of normal and OSCC included MMP1, SOCS3 and ACOX1. Furthermore, in the case of oral dysplasia and OSCC discrimination, two combined biomarkers were identified. The combined genomic expression achieved better performance in the discrimination of different conditions than in a single significant gene. Therefore, it could be expected that accurate diagnosis for cancer could be possible with a combined biomarker.

Keywords: oral squamous cell carcinoma, combined biomarker, microarray dataset, correlated genes

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Authors: Paria Tajabor, Azin Azarbani

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The purpose of this research study is exploring two kind of semantic repositories with regards to various factors to find the best approaches that an artificial manager can use to produce ontology in a system based on their interaction, association and research. To this end, as the best way to evaluate each system and comparing with others is analysis, several benchmarking over these two repositories were examined. These two semantic repositories: OWLIM and AllegroGraph will be the main core of this study. The general objective of this study is to be able to create an efficient and cost-effective manner reports which is required to support decision making in any large enterprise.

Keywords: OWLIM, allegrograph, RDF, reasoning, semantic repository, semantic-web, SPARQL, ontology, query

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Authors: Maria Joseph Israel, Ahmed Amer

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Our work aims to broaden the application of provenance technology beyond its traditional domains of scientific workflow management and database systems by offering a general provenance framework to capture richer and extensible metadata in unstructured textual data sources such as literary texts, commentaries, translations, and digital humanities. Specifically, we demonstrate the feasibility of capturing and representing expressive provenance metadata, including more of the context for citing scholarly works (e.g., the authors’ explicit or inferred intentions at the time of developing his/her research content for publication), while also supporting subsequent augmentation with similar additional metadata (by third parties, be they human or automated). To better capture the nature and types of possible citations, in our proposed provenance scheme metaScribe, we extend standard provenance conceptual models to form our proposed provCite ontology. This provides a conceptual framework which can accurately capture and describe more of the functional and rhetorical properties of a citation than can be achieved with any current models.

Keywords: knowledge representation, provenance architecture, ontology, metadata, bibliographic citation, semantic web annotation

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Authors: Umme Shahera, Saifullah Munshi, Munira Jahan, Afzalun Nessa, Shahinul Alam, Shahina Tabassum

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The development of HCC is a multi-stage process. Several extrinsic factors, such as aflatoxin, HBV, nutrition, alcohol, and trace elements are thought to initiate or/and promote the hepatocarcinogenesis. Alteration of p53 status is an important intrinsic factor in this process as p53 is essential for preventing inappropriate cell proliferation and maintaining genome integrity following genotoxic stress. This study was designed to assess the correlation of p53 gene expression with HBV-DNA and serum Alanine transaminase (ALT) in patients with cirrhosis and HCC. The study was conducted among 60 patients. The study population were divided into four groups (15 in each groups)-HBV positive cirrhosis, HBV negative cirrhosis, HBV positive HCC and HBV negative HCC. Expression of p53 gene was observed using real time PCR. P53 gene expressions in the above mentioned groups were correlated with serum ALT level and HBV viral load. p53 gene was significantly higher in HBV-positive patients with HCC than HBV-positive cirrhosis. Similarly, the expression of p53 was significantly higher in HBV-positive HCC than HBV-negative HCC patients. However, the expression of p53 was reduced in HBV-positive cirrhosis in comparison with HBV-negative cirrhosis. P53 gene expression in liver was not correlated with the serum levels of ALT in any of the study groups. HBV- DNA load also did not correlated with p53 gene expression in HBV positive HCC and HBV positive cirrhosis patients. This study shows that there was no significant change with the expression of p53 gene in any of the study groups with ALT level or viral load, though differential expression of p53 gene were observed in cirrhosis and HCC patients.

Keywords: P53, ALT, HBV-DNA, liver cirrhosis, hepatocellular carcinoma

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Authors: Alieh Farshbaf, Tayyeb Bahrami

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Introduction: Cc-chemokine receptor-5 (CCR5) is known as a main co-receptor in human immunodeficiency virus type-1 (HIV-1) infection. Many studies showed 32bp deletion (Δ32) in CCR5 gene, provide natural resistance to HIV-1 infection in homozygous individuals. Inducing the resistance mechanism by CCR5 in HIV-1 infected patients eliminated many problems of highly-active-anti retroviral therapy (HAART) drugs like as low safety, side-effects and virus rebounding from latent reservoirs. New treatments solved some restrictions that are based on gene modification and cell therapy. Literature review: The stories of the “Berlin and Boston patients” showed autologous hematopoietic stem cells transplantation (HSCT) could provide effective cure of HIV-1 infected patients. Furthermore, gene modification by zinc finger nuclease (ZFN) demonstrated another successful result again. Despite the other studies for gene therapy by ∆32 genotype, there is another mutation -CCR5 ∆32/m303- that provides HIV-1 resistant. It is a heterozygote genotype for ∆32 and T→A point mutation at nucleotide 303. These results approved the key role of CCR5 gene. Conclusion: Recent studies showed immune gene therapy and cell therapy could provide effective cure for refractory disease like as HIV. Eradication of HIV-1 from immune system was not observed by HAART, because of reloading virus genome from latent reservoirs after stopping them. It is showed that CCR5 could induce natural resistant to HIV-1 infection by the new approaches based on stem cell transplantation and gene modifying.

Keywords: CCR5, HIV-1, stem cell, immune gene therapy, gene modification

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Authors: Yujie Zhou, Hee-Seong Byun, Sang-In Bak, Eui-Joon Kil, Kyung Joo Min, Vivek Chavan, Won Kyong Cho, Sukchan Lee, Seung-Woo Hong, Tae-Sun Park

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Fast neutron irradiation (FNI) can cause mutations on plant genome but, in the most of cases, these irradiated plants have not shown significant characteristics phenotypically. In this study, we utilized RNA-Seq to generate a high-resolution transcriptome map of the tomato (Solanum lycopersicum) genome effected by FNI. To quantify the different transcription levels in tomato irradiated by FNI, tomato seeds were irradiated by using MC-50 cyclotron (KIRAMS, Korea) for 0, 30 and 90 minutes, respectively. To investigate the effects on the pre-soaking condition, experimental groups were divided into dry and soaked seeds, which were soaked for 8 hours before irradiation. There was no noticeable difference in the percentage germination (PG) among dry seeds, while irradiated soaked seeds have about 10 % lower PG compared to the unirradiated control group. Using whole transcriptome sequencing by HiSeq 2000, we analyzed the differential gene expression in response to different time of FNI in dry and soaked seeds. More than 1.4 million base pair reads were mapped onto the tomato reference genome and the expression pattern differences between irradiated and unirradiated seeds were assessed. In 0, 30 and 90 minutes irradiation, 12,135, 28,495 and 28,675 transcripts were generated, respectively. Gene ontology analysis suggested the different enrichment of transcripts involved in response to different FNI. The present study showed that FNI effects on plant gene expression, which can become a new parameters for evaluating the responses against FNI on plants. In addition, the comparative analysis of differentially expressed genes in D and S seeds by FNI will also give us a chance to deep explore novel candidate genes for FNI, which could be a good model system to understand the mechanisms behind the adaption of plant to space biology research.

Keywords: tomato (solanum lycopersicum), fast neutron irradiation, RNA-sequence, transcriptome expression

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Authors: Danna Jia, Bin Li

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Background: Atopic dermatitis (AD) is a chronic and refractory inflammatory skin disease characterized by relapsing eczematous and pruritic skin lesions. The global prevalence of AD ranges from 1~ 20%, and its incidence rates are increasing. It affects individuals from infancy to adulthood, significantly impacting their daily lives and social activities. Despite its major health burden, the precise mechanisms underlying AD remain unknown. Understanding the genetic differences associated with AD is crucial for advancing diagnosis and targeted treatment development. This study aims to identify candidate genes of AD by using bioinformatics analysis. Methods: We conducted a comprehensive analysis of four pooled transcriptomic datasets (GSE16161, GSE32924, GSE130588, and GSE120721) obtained from the Gene Expression Omnibus (GEO) database. Differential gene expression analysis was performed using the R statistical language. The differentially expressed genes (DEGs) between AD patients and normal individuals were functionally analyzed using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. Furthermore, a protein-protein interaction (PPI) network was constructed to identify candidate genes. Results: Among the patient-level gene expression datasets, we identified 114 shared DEGs, consisting of 53 upregulated genes and 61 downregulated genes. Functional analysis using GO and KEGG revealed that the DEGs were mainly associated with the negative regulation of transcription from RNA polymerase II promoter, membrane-related functions, protein binding, and the Human papillomavirus infection pathway. Through the PPI network analysis, we identified eight core genes: CD44, STAT1, HMMR, AURKA, MKI67, and SMARCA4. Conclusion: This study elucidates key genes associated with AD, providing potential targets for diagnosis and treatment. The identified genes have the potential to contribute to the understanding and management of AD. The bioinformatics analysis conducted in this study offers new insights and directions for further research on AD. Future studies can focus on validating the functional roles of these genes and exploring their therapeutic potential in AD. While these findings will require further verification as achieved with experiments involving in vivo and in vitro models, these results provided some initial insights into dysfunctional inflammatory and immune responses associated with AD. Such information offers the potential to develop novel therapeutic targets for use in preventing and treating AD.

Keywords: atopic dermatitis, bioinformatics, biomarkers, genes

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Authors: Elly Usman, S. Dante, Diah Purnamasari

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Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.

Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics

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Authors: Mohammad Alqahtani, Eric Atwell

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This paper reviews and classifies most of the important types of search techniques that have been applied on the holy Quran. Then, it addresses the limitations in these techniques. Additionally, this paper surveys most existing Quranic ontologies and what are their deficiencies. Finally, it explains a new search tool called: A semantic search tool for Al Quran based on Qur’anic ontologies. This tool will overcome all limitations in the existing Quranic search applications.

Keywords: holy Quran, natural language processing (NLP), semantic search, information retrieval (IR), ontology

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