Search results for: whole exome sequencing data

Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

Abstract:

Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

Procedia PDF Downloads 342

Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

Abstract:

Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

Procedia PDF Downloads 331

Authors: Mohamed Elkholy, Ahmed Elfatatry

Abstract:

Cloud computing has emerged as a flexible computing paradigm that reshaped the Information Technology map. However, cloud computing brought about a number of security challenges as a result of the physical distribution of computational resources and the limited control that users have over the physical storage. This situation raises many security challenges for data integrity and confidentiality as well as authentication and access control. This work proposes a security mechanism for data integrity that allows a data owner to be aware of any modification that takes place to his data. The data integrity mechanism is integrated with an extended Kerberos authentication that ensures authorized access control. The proposed mechanism protects data confidentiality even if data are stored on an untrusted storage. The proposed mechanism has been evaluated against different types of attacks and proved its efficiency to protect cloud data storage from different malicious attacks.

Keywords: access control, data integrity, data confidentiality, Kerberos authentication, cloud security

Procedia PDF Downloads 334

Authors: Emma J. Dale, Christina D. Buesching, Kevin R. Theis, David W. Macdonald

Abstract:

This study investigates the oral and intestinal microbiomes of wild-living European badgers (Meles meles) and will relate inter-individual differences to social contact networks, somatic and reproductive fitness, varying susceptibility to bovine tuberculous (bTB) and to the olfactory advertisement. Badgers are an interesting model for this research, as they have great variation in body condition, despite living in complex social networks and having access to the same resources. This variation in somatic fitness, in turn, affects breeding success, particularly in females. We postulate that microbiota have a central role to play in determining the successfulness of an individual. Our preliminary results, characterising the microbiota of individual badgers, indicate unique compositions of microbiota communities within social groups of badgers. This basal information will inform further questions related to the extent microbiota influence fitness. Hitherto, the potential role of microbiota has not been considered in determining host condition, but also other key fitness variables, namely; communication and resistance to disease. Badgers deposit their faeces in communal latrines, which play an important role in olfactory communication. Odour profiles of anal and subcaudal gland secretions are highly individual-specific and encode information about group-membership and fitness-relevant parameters, and their chemical composition is strongly dependent on symbiotic microbiota. As badgers sniff/ lick (using their Vomeronasal organ) and over-mark faecal deposits of conspecifics, these microbial communities can be expected to vary with social contact networks. However, this is particularly important in the context of bTB, where badgers are assumed to transmit bTB to cattle as well as conspecifics. Interestingly, we have found that some individuals are more susceptible to bTB than are others. As acquired immunity and thus potential susceptibility to infectious diseases are known to depend also on symbiotic microbiota in other members of the mustelids, a role of particularly oral microbiota can currently not be ruled out as a potential explanation for inter-individual differences in infection susceptibility of bTB in badgers. Tri annually badgers are caught in the context of a long-term population study that began in 1987. As all badgers receive an individual tattoo upon first capture, age, natal as well as previous and current social group-membership and other life history parameters are known for all animals. Swabs (subcaudal ‘scent gland’, anal, genital, nose, mouth and ear) and fecal samples will be taken from all individuals, stored at -80oC until processing. Microbial samples will be processed and identified at Wayne State University’s Theis (Host-Microbe Interactions) Lab, using High Throughput Sequencing (16S rRNA-encoding gene amplification and sequencing). Acknowledgments: Gas-Chromatography/ Mass-spectrometry (in the context of olfactory communication) analyses will be performed through an established collaboration with Dr. Veronica Tinnesand at Telemark University, Norway.

Keywords: communication, energetics, fitness, free-ranging animals, immunology

Procedia PDF Downloads 186

Authors: Baljeet Singh Saharan

Abstract:

Bioremediation is the demand of the day. Tannery and textile effluents/waste waters have lots of pollution due to presence of hexavalent Chromium. Methodologies used in the present investigations include isolation, cultivation and purification of bacterial strain. Further characterization techniques and 16S rRNA sequencing were performed. Efficient bacterial strain capable of reducing hexavalent chromium was obtained. The strain can be used for bioremediation of industrial effluents containing hexavalent Cr. A gram negative, rod shaped and yellowish pigment producing bacterial strain from tannery effluent was isolated using nutrient agar. The 16S rRNA gene sequence similarity indicated that isolate SA13A is associated with genus Luteimonas (99%). This isolate has been found to reduce 100% of hexavalent chromium Cr (VI) (100 mg L-1) 100% in 16 h. Growth conditions were optimized for Cr (VI) reduction. Maximum reduction was observed at a temperature of 37 °C and pH 8.0. Additionally, Luteimonas aestuarii SA13A showed resistance against various heavy metals like Cr+6, Cr+3, Cu+2, Zn+2, Co+2, Ni+2 and Cd+2 . Hence, Luteimonas aestuarii SA13A could be used as potent Cr (VI) reducing strain as well as significant bioremediator in heavy metal contaminated sites.

Keywords: bioremediation, chromium, eco-friendly, heavy metals

Procedia PDF Downloads 462

Authors: Mhaned Oubounyt, Jan Baumbach

Abstract:

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

Procedia PDF Downloads 146

Authors: Kaouther Jaouadi, Jihene Bettaieb, Amira Bennour, Ghassen Kharroubi, Sadok Salem, Afif Ben Salah

Abstract:

In Tunisia, chronic cutaneous leishmaniasis due to Leishmania (L) tropica is an important health problem. Its spreading has not been fully elucidated. Information on sandfly vectors, as well as their associated Leishmania species, is of paramount importance since vector dispersion is one of the major factors responsible for pathogen dissemination. In total, 650 sandflies were captured between June and August 2015 using sticky paper traps in the governorate of Sidi Bouzid, a classical focus of L. major in the Central-West of Tunisia. Polymerase chain reaction-restriction fragment length polymorphism analysis of the internal transcribed spacer 1 and sequencing were used for Leishmania detection and identification. Ninety-seven unfed females were tested for the presence of Leishmania parasite DNA. Six Phlebotomus sergenti were found positive for L. tropica. This finding enhances the understanding of the cycle extension of L. tropica outside its original focus of Tataouine in the South-East of the country.

Keywords: cutaneous leishmaniasis, Leishmania tropica, sandflies, Tunisia

Procedia PDF Downloads 154

Authors: Bourama Mane, Ibrahima Fall, Mamadou Samba Camara, Alassane Bah

Abstract:

At the level of the National Statistical Institutes, there is a large volume of data which is generally in a format which conditions the method of publication of the information they contain. Each household or business data collection project includes a dissemination platform for its implementation. Thus, these dissemination methods previously used, do not promote rapid access to information and especially does not offer the option of being able to link data for in-depth processing. In this paper, we present an approach to modeling these data to publish them in a format intended for the Semantic Web. Our objective is to be able to publish all this data in a single platform and offer the option to link with other external data sources. An application of the approach will be made on data from major national surveys such as the one on employment, poverty, child labor and the general census of the population of Senegal.

Keywords: Semantic Web, linked open data, database, statistic

Procedia PDF Downloads 174

Authors: Nazura Abdul Manap, Siti Nur Farah Atiqah Salleh

Abstract:

For decades, the misuse of personal data has been a critical issue. Malaysia has accepted responsibility by implementing the Malaysian Personal Data Protection Act 2010 to secure personal data (PDPA 2010). After more than a decade, this legislation is set to be revised by the current PDPA 2023 Amendment Bill to align with the world's key personal data protection regulations, such as the European Union General Data Protection Regulations (GDPR). Among the other suggested adjustments is the Data User's appointment of a Data Protection Officer (DPO) to ensure the commercial entity's compliance with the PDPA 2010 criteria. The change is expected to be enacted in parliament fairly soon; nevertheless, based on the experience of the Personal Data Protection Department (PDPD) in implementing the Act, it is projected that there will be a slew of additional concerns associated with the DPO mandate. Consequently, the goal of this article is to highlight the issues that the DPO will encounter and how the Personal Data Protection Department should respond to this subject. The study result was produced using a qualitative technique based on an examination of the current literature. This research reveals that there are probable obstacles experienced by the DPO, and thus, there should be a definite, clear guideline in place to aid DPO in executing their tasks. It is argued that appointing a DPO is a wise measure in ensuring that the legal data security requirements are met.

Keywords: guideline, law, data protection officer, personal data

Procedia PDF Downloads 77

Authors: Nouha Mhimdi, Wahiba Ben Abdessalem Karaa, Henda Ben Ghezala

Abstract:

The methods identified in data collection are diverse: electronic media, focus group interviews and short-answer questionnaires [1]. The collection of poor-quality data resulting, for example, from poorly designed questionnaires, the absence of good translators or interpreters, and the incorrect recording of data allow conclusions to be drawn that are not supported by the data or to focus only on the average effect of the program or policy. There are several solutions to avoid or minimize the most frequent errors, including obtaining expert advice on the design or adaptation of data collection instruments; or use technologies allowing better "anonymity" in the responses [2]. In this context, we opted to collect good quality data by doing a sizeable questionnaire-based survey on hospital emergencies to improve emergency services and alleviate the problems encountered. At the level of this paper, we will present our study, and we will detail the steps followed to achieve the collection of relevant, consistent and practical data.

Keywords: data collection, survey, questionnaire, database, data analysis, hospital emergencies

Procedia PDF Downloads 106

Authors: Hazha Hidayat, Shayma Ibrahim

Abstract:

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

Procedia PDF Downloads 306

Authors: Ananya Gangavarapu

Abstract:

Convolutional Neural Networks (CNN) based models are providing diagnostic capabilities on par with the medical specialists in many specialty areas. However, collecting the medical data for training purposes is very challenging because of the increased regulations around data collections and privacy concerns around personal health data. The gathering of the data becomes even more difficult if the capture devices are edge-based mobile devices (like smartphones) with feeble wireless connectivity in rural/remote areas. In this paper, I would like to highlight Federated Learning approach to mitigate data privacy and security issues.

Keywords: deep learning in healthcare, data privacy, federated learning, training in distributed environment

Procedia PDF Downloads 141

Authors: Daniel Brian Thompson, Subarmaniam Kannan

Abstract:

The huge weightage of knowledge in this world and within the repository of organizations has already reached immense capacity and is constantly increasing as time goes by. To accommodate these constraints, Big Data implementation and algorithms are utilized to obtain new or enhanced knowledge for decision-making. With the transition from data to knowledge provides the transformational changes which will provide tangible benefits to the individual implementing these practices. Today, various organization would derive knowledge from observations and intuitions where this information or data will be translated into best practices for knowledge acquisition, generation and sharing. Through the widespread usage of Big Data, the main intention is to provide information that has been cleaned and analyzed to nurture tangible insights for an organization to apply to their knowledge-creation practices based on facts and figures. The translation of data into knowledge will generate value for an organization to make decisive decisions to proceed with the transition of best practices. Without a strong foundation of knowledge and Big Data, businesses are not able to grow and be enhanced within the competitive environment.

Keywords: big data, knowledge management, data driven, knowledge creation

Procedia PDF Downloads 115

Authors: Inba Blesso P., Senthil Kumar P.

Abstract:

The main consideration of any tire manufacturing process is wear resistance. One of the factors that cause tire wear is improper removal of vent and flash from the tire surface. The contact point between tyre surface and vent is highly supposed to wear. When the vehicle running at higher speed with heavy load, the tire vent and flash is wearing initially and it makes few of the tire surface material to wear along with it. Hence, provision must be given to efficient removal vent and flash thereby tire wear. Human efforts in trimming of tire vent results in time consuming and inaccurate output. Hence, this lead to the reduction in production rate and profit. Thus, the development of automated system can helps to attain minimum time consumption and provide a possible way to get the profitable production. Semi-automated system that employs Pneumatic actuators and sequencing circuits are focused in this study. By implementing this, one can achieve the accurate results with reduction in time and profitable output.

Keywords: tire manufacturing, pneumatic system, vent and flash removal, engineering and technology

Procedia PDF Downloads 379

Authors: Masese Chuma Benard, Martin Onsiro Ronald

Abstract:

Businesses have been using cloud computing more frequently recently because they wish to take advantage of its advantages. However, employing cloud computing also introduces new security concerns, particularly with regard to data security, potential risks and weaknesses that could be exploited by attackers, and various tactics and strategies that could be used to lessen these risks. This study examines data security issues on cloud computing amongst sme’s in Nairobi county, Kenya. The study used the sample size of 48, the research approach was mixed methods, The findings show that data owner has no control over the cloud merchant's data management procedures, there is no way to ensure that data is handled legally. This implies that you will lose control over the data stored in the cloud. Data and information stored in the cloud may face a range of availability issues due to internet outages; this can represent a significant risk to data kept in shared clouds. Integrity, availability, and secrecy are all mentioned.

Keywords: data security, cloud computing, information, information security, small and medium-sized firms (SMEs)

Procedia PDF Downloads 83

Authors: M. Strémy, P. Závacký, P. Cuninka, M. Juhás

Abstract:

Main goal of this paper is to introduce our design of private cloud for storing large amount of data, especially pictures, and to provide good technological backend for data analysis based on parallel processing and business intelligence. We have tested hypervisors, cloud management tools, storage for storing all data and Hadoop to provide data analysis on unstructured data. Providing high availability, virtual network management, logical separation of projects and also rapid deployment of physical servers to our environment was also needed.

Keywords: cloud, glusterfs, hadoop, juju, kvm, maas, openstack, virtualization

Procedia PDF Downloads 351

Authors: Amitha Puranik, V. S. Binu, Seena Biju

Abstract:

Missing data is a common problem in spatial analysis especially at the aggregate level. Missing can either occur in covariate or in response variable or in both in a given location. Many missing data techniques are available to estimate the missing data values but not all of these methods can be applied on spatial data since the data are autocorrelated. Hence there is a need to develop a method that estimates the missing values in both response variable and covariates in spatial data by taking account of the spatial autocorrelation. The present study aims to develop a model to estimate the missing data points at the aggregate level in spatial data by accounting for (a) Spatial autocorrelation of the response variable (b) Spatial autocorrelation of covariates and (c) Correlation between covariates and the response variable. Estimating the missing values of spatial data requires a model that explicitly account for the spatial autocorrelation. The proposed model not only accounts for spatial autocorrelation but also utilizes the correlation that exists between covariates, within covariates and between a response variable and covariates. The precise estimation of the missing data points in spatial data will result in an increased precision of the estimated effects of independent variables on the response variable in spatial regression analysis.

Keywords: spatial regression, missing data estimation, spatial autocorrelation, simulation analysis

Procedia PDF Downloads 380

Authors: A. T. Adetunji, F. B. Lewu, R. Mundembe

Abstract:

Plants require nitrogen (N) to support desired production levels. Nitrogen is available to plants in the form of nitrate or ammonium, which are transported into the cell with the aid of various transport proteins. Ammonium transporters (AMTs) play a role in the uptake of ammonium, the form in which nitrogen is preferentially absorbed by plants. Solanum tuberosum AMT1 (StAMT1) was characterized using molecular biology and bioinformatics methods. Nucleotide database sequences were used to design AMT1-specific primers which were used to amplify the AMT1 internal regions. Nucleotide sequencing, alignment and phylogenetic analysis assigned StAMT1 to the AMT1 family. The deduced amino acid sequences showed that StAMT1 is 92%, 83% and 76% similar to Solanum lycopersicum LeAMT1.1, Lotus japonicus LjAMT1.1 and Solanum lycopersicum LeAMT1.2 respectively. StAMT1 fragments were shown to correspond to the 5th - 10th trans-membrane domains. Residue StAMT1 D15 is predicted to be essential for ammonium transport, while mutations of StAMT1 S76A may further enhance ammonium transport.

Keywords: ammonium transporter, bioinformatics, nitrogen, primers, Solanum tuberosum

Procedia PDF Downloads 246

Authors: Sarra Senhadji, Imene Benzeguimi, Zohra Yagoub

Abstract:

Big Data represents the recent technology of manipulating voluminous and unstructured data sets over multiple sources. Therefore, NOSQL appears to handle the problem of unstructured data. Association rules mining is one of the popular techniques of data mining to extract hidden relationship from transactional databases. The algorithm for finding association dependencies is well-solved with Map Reduce. The goal of our work is to reduce the time of generating of frequent itemsets by using Map Reduce and NOSQL database oriented document. A comparative study is given to evaluate the performances of our algorithm with the classical algorithm Apriori.

Keywords: Apriori, Association rules mining, Big Data, Data Mining, Hadoop, MapReduce, MongoDB, NoSQL

Procedia PDF Downloads 158

Authors: Melaku Tsehay

Abstract:

The Consortium of Christian Relief and Development Associations (CCRDA), and the CORE Group Polio Partners (CGPP) Secretariat have been working with Global Alliance for Vac-cines and Immunization (GAVI) to improve the immunization data quality in Afar and Somali Regional States. The main aim of this study was to compare the quality of immunization data before and after the above interventions in health facilities in the pastoralist communities in Ethiopia. To this end, a comparative-cross-sectional study was conducted on 51 health facilities. The baseline data was collected in May 2019, while the end line data in August 2021. The WHO data quality self-assessment tool (DQS) was used to collect data. A significant improvment was seen in the accuracy of the pentavalent vaccine (PT)1 (p = 0.012) data at the health posts (HP), while PT3 (p = 0.010), and Measles (p = 0.020) at the health centers (HC). Besides, a highly sig-nificant improvment was observed in the accuracy of tetanus toxoid (TT)2 data at HP (p < 0.001). The level of over- or under-reporting was found to be < 8%, at the HP, and < 10% at the HC for PT3. The data completeness was also increased from 72.09% to 88.89% at the HC. Nearly 74% of the health facilities timely reported their respective immunization data, which is much better than the baseline (7.1%) (p < 0.001). These findings may provide some hints for the policies and pro-grams targetting on improving immunization data qaulity in the pastoralist communities.

Keywords: data quality, immunization, verification factor, pastoralist region

Procedia PDF Downloads 120

Authors: Hayal Akyildirim Beğen, Özgür Emi̇nağaoğlu

Abstract:

DNA barcoding is the method of description of species based on gene diversity. In current studies, registration, genetic identification and protection of especially endemic plants pecies are carried out by DNA barcoding techniques. Molecular studies are based on the amplification and sequencing of the barcode gene region by the PCR method. Endemic Campanula choruhensis Kit Tan & Sorger, Campanula troegera Damboldt and Campanula betulifolia K.Koch is widespread in Artvin, Erzurum and around Çoruh valley passing through it. Intense road and dam constructions are carried out in and around the distribution area of this species. This situation harms the habitat of the species and puts its extinction. In this study, the plastid matK barcode gene regions (650 bp) of three Campanula species were created. To make the identification of this species quickly and accurately, gene sequence compared with sequences of other Campanula L. species. As a result of phylogenetic analysis, C. choruhensis is close relative to C. betulifolia. Morphologically, these species were determined to be more similar to each other with flower and leaf characters. C. troegera formed a separate branch.

Keywords: campanula, DNA barcoding, endemic, türkiye, artvin

Procedia PDF Downloads 66

Authors: Maria Paula Santos, Ana Lucas

Abstract:

Organizations support their operations and decision making on the data they have at their disposal, so the quality of these data is remarkably important and Data Quality (DQ) is currently a relevant issue, the literature being unanimous in pointing out that poor DQ can result in large costs for organizations. The literature review identified and described 24 Critical Success Factors (CSF) for Data Quality Management (DQM) that were presented to a panel of experts, who ordered them according to their degree of importance, using the Delphi method with the Q-sort technique, based on an online questionnaire. The study shows that the five most important CSF for DQM are: definition of appropriate policies and standards, control of inputs, definition of a strategic plan for DQ, organizational culture focused on quality of the data and obtaining top management commitment and support.

Keywords: critical success factors, data quality, data quality management, Delphi, Q-Sort

Procedia PDF Downloads 216

Authors: Dina Athariah, Desriani Desriani, Bugi Ratno Budiarto, Abinawanto Abinawanto, Dwi Wulandari

Abstract:

Breast cancer is a regulated by many genes. Defect in PIK3CA gene especially at position of exon 9 (E542K and E545K), called hot spot mutation induce early transformation of breast cells. The early detection of breast cancer based on mutation profile of this hot spot region would be hampered by the existence of pseudogene, marked by its substitution mutation at base 1658 (E545A) and deletion at 1659 that have been previously proven in several cancers. To the best of the authors’ knowledge, until recently no studies have been reported about pseudogene phenomenon in breast cancer. Here, we reported PCR optimization to to obtain true exon 9 of PIK3CA gene from its pseudogene hence increasing the validity of data. Material and methods: two genomic DNA with Dev and En code were used in this experiment. Two pairs of primer were design for Standard PCR method. The size of PCR products for each primer is 200bp and 400bp. While other primer was designed for Nested-PCR followed with DNA sequencing method. For Nested-PCR, we optimized the annealing temperature in first and second run of PCR, and the PCR cycle for first run PCR (15x versus 25x). Result: standard PCR using both primer pairs designed is failed to detect the true PIK3CA gene, appearing a substitution mutation at 1658 and deletion at 1659 of PCR product in sequence chromatogram indicated pseudogene. Meanwhile, Nested-PCR with optimum condition (annealing temperature for the first round at 55oC, annealing temperatung for the second round at 60,7oC with 15x PCR cycles) and could detect the true PIK3CA gene. Dev sample were identified as WT while En sample contain one substitution mutation at position 545 of exon 9, indicating amino acid changing from E to K. For the conclusion, pseudogene also exists in breast cancer and the apllication of optimazed Nested-PCR in this study could detect the true exon 9 of PIK3CA gene.

Keywords: breast cancer, exon 9, hotspot mutation, PIK3CA, pseudogene

Procedia PDF Downloads 241

Authors: H. Sakamoto, S. Kurosawa, M. Suzuki, S. Oguri

Abstract:

In Arabidopsis, several genes encoding proteins with ankyrin repeats and trans-membrane domains (AtANKTM) have been identified as mediators of biotic and abiotic stress responses. It has been known that the expression of an AtANKTM gene, At2g24600, is induced in response to abiotic stress and that there are four splicing variants derived from this locus. In this study, by RT-PCR and sequencing analysis, an unknown splicing variant of the At2g24600 transcript was identified. Based on differences in the predicted amino acid sequences, the five splicing variants are divided into three groups. The three predicted proteins are highly homologous, yet have different numbers of ankyrin repeats and trans-membrane domains. It is generally considered that ankyrin repeats mediate protein-protein interaction and that the number of trans-membrane domains affects membrane topology of proteins. The protein variants derived from the At2g24600 locus may have different molecular functions each other.

Keywords: alternative splicing, ankyrin repeats, trans-membrane domains, arabidopsis

Procedia PDF Downloads 372

Authors: Djamila Benhaddouche, Abdelkader Benyettou

Abstract:

In this paper, we used data mining to extract biomedical knowledge. In general, complex biomedical data collected in studies of populations are treated by statistical methods, although they are robust, they are not sufficient in themselves to harness the potential wealth of data. For that you used in step two learning algorithms: the Decision Trees and Support Vector Machine (SVM). These supervised classification methods are used to make the diagnosis of thyroid disease. In this context, we propose to promote the study and use of symbolic data mining techniques.

Keywords: biomedical data, learning, classifier, algorithms decision tree, knowledge extraction

Procedia PDF Downloads 556

Authors: Usama Ahmed

Abstract:

Data mining is the process of analyze data which are used to predict helpful information. It is the field of research which solve various type of problem. In data mining, classification is an important technique to classify different kind of data. Diabetes is most common disease. This paper implements different classification technique using Waikato Environment for Knowledge Analysis (WEKA) on diabetes dataset and find which algorithm is suitable for working. The best classification algorithm based on diabetic data is Naïve Bayes. The accuracy of Naïve Bayes is 76.31% and take 0.06 seconds to build the model.

Keywords: data mining, classification, diabetes, WEKA

Procedia PDF Downloads 145

Authors: Asifa Amara, Prachi Singh, Kanishka, Debargho Pathak, Akshat Kumar, Jayakumar Eravelly

Abstract:

Today's generation is totally dependent on technology that uses data as its fuel. The present study is all about innovations and developments in data science and gives an idea about how efficiently to use the data provided. This study will help to understand the core concepts of data science. The concept of artificial intelligence was introduced by Alan Turing in which the main principle was to create an artificial system that can run independently of human-given programs and can function with the help of analyzing data to understand the requirements of the users. Data science comprises business understanding, analyzing data, ethical concerns, understanding programming languages, various fields and sources of data, skills, etc. The usage of data science has evolved over the years. In this review article, we have covered a part of data science, i.e., machine learning. Machine learning uses data science for its work. Machines learn through their experience, which helps them to do any work more efficiently. This article includes a comparative study image between human understanding and machine understanding, advantages, applications, and real-time examples of machine learning. Data science is an important game changer in the life of human beings. Since the advent of data science, we have found its benefits and how it leads to a better understanding of people, and how it cherishes individual needs. It has improved business strategies, services provided by them, forecasting, the ability to attend sustainable developments, etc. This study also focuses on a better understanding of data science which will help us to create a better world.

Keywords: data science, machine learning, data analytics, artificial intelligence

Procedia PDF Downloads 80

Authors: Kayode O. Afolabi, Benson C. Iweriebor, Anthony I. Okoh, Larry C. Obi

Abstract:

Porcine circovirus type 2 (PCV2) is the major etiological viral agent of porcine multisystemic wasting syndrome (PWMS) and other porcine circovirus-associated diseases (PCVAD) of great economic importance in pig industry globally. In an effort to determine the status of swine herds in the Province as regarding the ‘small but powerful’ viral pathogen; a total of 375 blood, faecal and nasal swab samples were obtained from seven pig farms (commercial and communal) in Amathole, O.R. Tambo and Chris-Hani District Municipalities of Eastern Cape Province between the year 2015 and 2016. Three hundred and thirty nine (339) samples out of the total sample were subjected to molecular screening using PCV2 specific primers by conventional polymerase chain reaction (PCR). Selected sequences were further analyzed and confirmed through genome sequencing and phylogenetic analyses. The data obtained revealed that 15.93% of the screened samples (54/339) from the swine herds of the studied areas were positive for PCV2; while the severity of occurrence of the viral pathogen as observed at farm level ranges from approximately 5.6% to 60% in the studied farms. The Majority, precisely 15 out of 17 (88%) analyzed sequences were found clustering with other PCV2b reference strains in the phylogenetic analysis. More interestingly, two other sequences obtained were also found clustering within PCV2d genogroup, which is presently another fast-spreading genotype with observable higher virulence in global swine herds. This finding confirmed the presence of this all-important viral pathogen in pigs of the region; which could result in a serious outbreak of PCVAD and huge economic loss at the instances of triggering factors if no appropriate measures are taken to curb its spread effectively.

Keywords: pigs, polymerase chain reaction, porcine circovirus type 2, South Africa

Procedia PDF Downloads 207

Authors: Abdelsabour G. A. Khaled, Ahmed W. A. Abdalla And Sabry Y. M. Mahmoud

Abstract:

Banana plants showing typical mosaic and yellow stripes on leaves as symptoms were collected from Assiut Governorate in Egypt. The causal agent was identified as Cucumber mosaic virus (CMV) on the basis of symptoms, transmission, serology, transmission electron microscopy and reverse transcription polymerase chain reaction (RT-PCR). Coat protein (CP) gene was amplified using gene specific primers for coat protein (CP), followed by cloning into desired cloning vector for sequencing. In this study the CMV was transmitted into propagation host either by aphid or mechanically. The transmission was confirmed through Direct Antigen Coating Enzyme Linked Immuno Sorbent Assay (DAC-ELISA). Analysis of the 120 deduced amino acid sequence of the coat protein gene revealed that the EG-A strain of CMV shared from 97.50 to 98.33% with those strains belonging to subgroup IA. The cluster analysis grouped the Egyptian isolate with strains Fny and Ri8 belonging sub-group IA. It appears that there occurs a high incidence of CMV infecting banana belonging to IA subgroup in most parts of Egypt.

Keywords: banana, CMV, transmission, CP gene, RT-PCR

Procedia PDF Downloads 341

Authors: Rashad Al-Hindi

Abstract:

The aims of the study were to isolate and identify potential probiotic lactic acid bacteria due to their therapeutic and food preservation importance. Sixty-three suspected lactic acid bacteria (LAB) strains were isolated from thirteen different raw milk and fermented milk product samples of various animal origins manufactured indigenously in the Kingdom of Saudi Arabia using de Man, Rogosa and Sharpe (MRS) agar medium and various incubation conditions. The identification of forty-six selected LAB strains was performed using molecular methods (16S rDNA gene sequencing). The LAB counts in certain samples were higher under microaerobic incubation conditions than under anaerobic conditions. The identified LAB belonged to the following genera: Enterococcus (16 strains), Lactobacillus (9 strains), Weissella (10 strains), Streptococcus (8 strains) and Lactococcus (3 strains), constituting 34.78%, 19.57%, 21.74%, 17.39% and 6.52% of the suspected isolates, respectively. This study noted that the raw milk and traditional fermented milk products of Saudi Arabia, especially stirred yogurt (Laban) made from camel milk, could be rich in LAB. The obtained LAB strains in this study will be tested for their probiotic potentials in another ongoing study.

Keywords: dairy, LAB, probiotic, Saudi Arabia

Procedia PDF Downloads 287