Search results for: genetics data

Authors: J. Bernasovska, I. Boronova, J. Poracova, M. Mydlarova Blascakova, V. Szabadosova, P. Ruzbarsky, E. Petrejcikova, I. Bernasovsky

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The paper presents the results of the molecular genetics analysis in sports research, with special emphasis to use genetic information in diagnosing of motoric predispositions in Roma boys from East Slovakia. The ability and move are the basic characteristics of all living organisms. The phenotypes are influenced by a combination of genetic and environmental factors. Genetic tests differ in principle from the traditional motoric tests, because the DNA of an individual does not change during life. The aim of the presented study was to examine motion abilities and to determine the frequency of ACTN3 (R577X) gene in Roma children. Genotype data were obtained from 138 Roma and 155 Slovak boys from 7 to 15 years old. Children were investigated on physical performance level in association with their genotype. Biological material for genetic analyses comprised samples of buccal swabs. Genotypes were determined using Real Time High resolution melting PCR method (Rotor-Gene 6000 Corbett and Light Cycler 480 Roche). The software allows creating reports of any analysis, where information of the specific analysis, normalized and differential graphs and many information of the samples are shown. Roma children of analyzed group legged to non-Romany children at the same age in all the compared tests. The % distribution of R and X alleles in Roma children was different from controls. The frequency of XX genotype was 9.26%, RX 46.33% and RR was 44.41%. The frequency of XX genotype was 9.26% which is comparable to a frequency of an Indian population. Data were analyzed with the ANOVA test.

Keywords: ACTN3 gene, R577X polymorphism, Roma children, sport performance, Slovakia

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Authors: Faisal Kalota

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Big Data and analytics have gained a huge momentum in recent years. Big Data feeds into the field of Learning Analytics (LA) that may allow academic institutions to better understand the learners’ needs and proactively address them. Hence, it is important to have an understanding of Big Data and its applications. The purpose of this descriptive paper is to provide an overview of Big Data, the technologies used in Big Data, and some of the applications of Big Data in education. Additionally, it discusses some of the concerns related to Big Data and current research trends. While Big Data can provide big benefits, it is important that institutions understand their own needs, infrastructure, resources, and limitation before jumping on the Big Data bandwagon.

Keywords: big data, learning analytics, analytics, big data in education, Hadoop

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Authors: Scott Andersen

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Perhaps simply and rather unadornedly, consciousness is having multiple goals for action and the continuously adjudication of such goals to implement action, referred to as the Maps of Meaning (MoM) Consciousness Theory. The MoM theory triangulates through three parallel corollaries, action (behavior), mechanism (morphology/pathophysiology), and goals (teleology). (1) An organism’s consciousness contains a fluid, nested goals. These goals are not intentionality, but intersectionality, embodiment meeting the world. i.e., Darwinian inclusive fitness or randomization, then survival of the fittest. These goals form via gradual descent under inclusive fitness, the goals being the abstraction of a ‘match’ between the evolutionary environment and organism. Human consciousness implements the brain efficiency hypothesis, genetics, epigenetics, and experience crystallize efficiencies, not necessitating best or objective but fitness, i.e., perceived efficiency based on one’s adaptive environment. These efficiencies are objectively arbitrary, but determine the operation and level of one’s consciousness, termed extreme thrownness. Since inclusive fitness drives efficiencies in physiologic mechanism, morphology and behavior (action) and originates one’s goals, embodiment is necessarily entangled to human consciousness as its the intersection of mechanism or action (both necessitating embodiment) occurring in the world that determines fitness. Perception is the operant process of consciousness and is the consciousness’ de facto goal adjudication process. Goal operationalization is fundamentally efficiency-based via one’s unique neuronal mapping as a byproduct of genetics, epigenetics, and experience. Perception involves information intake and information discrimination, equally underpinned by efficiencies of inclusive fitness via extreme thrownness. Perception isn’t a ‘frame rate,’ but Bayesian priors of efficiency based on one’s extreme thrownness. Consciousness and human consciousness is a modular (i.e., a scalar level of richness, which builds up like building blocks) and dimensionalized (i.e., cognitive abilities become possibilities as emergent phenomena at various modularities, like stratified factors in factor analysis). The meta dimensions of human consciousness seemingly include intelligence quotient, personality (five-factor model), richness of perception intake, and richness of perception discrimination, among other potentialities. Future consciousness research should utilize factor analysis to parse modularities and dimensions of human consciousness and animal models.

Keywords: consciousness, perception, prospection, embodiment

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Authors: Sandeep Sharma, Sarabjit Singh

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As per the user demand and growth trends of large free data the storage solutions are now becoming more challenge-able to protect, store and to retrieve data. The days are not so far when the storage companies and organizations are start saying 'no' to store our valuable data or they will start charging a huge amount for its storage and protection. On the other hand as per the environmental conditions it becomes challenge-able to maintain and establish new data warehouses and data centers to protect global warming threats. A challenge of small data is over now, the challenges are big that how to manage the exponential growth of data. In this paper we have analyzed the growth trend of big data and its future implications. We have also focused on the impact of the unstructured data on various concerns and we have also suggested some possible remedies to streamline big data.

Keywords: big data, unstructured data, volume, variety, velocity

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Authors: Yang Bao, Shi Wei Deng, WangQun Lin

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This paper introduces the concept and principle of data cleaning, analyzes the types and causes of dirty data, and proposes several key steps of typical cleaning process, puts forward a well scalability and versatility data cleaning framework, in view of data with attribute dependency relation, designs several of violation data discovery algorithms by formal formula, which can obtain inconsistent data to all target columns with condition attribute dependent no matter data is structured (SQL) or unstructured (NoSQL), and gives 6 data cleaning methods based on these algorithms.

Keywords: data cleaning, dependency rules, violation data discovery, data repair

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Authors: Louise Moles, Steve Riley, Sarah D. Lichenstein, Marzieh Babaeianjelodar, Robert Kohler, Annie Cheng, Corey Horien Abigail Greene, Wenjing Luo, Jonathan Ahern, Bohan Xu, Yize Zhao, Chun Chieh Fan, R. Todd Constable, Sarah W. Yip

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Background: Risks for depression are myriad and include both genetic and brain-based factors. However, relationships between these systems are poorly understood, limiting understanding of disease etiology, particularly at the developmental level. Methods: We use a data-driven machine learning approach connectome-based predictive modeling (CPM) to identify functional connectivity signatures associated with polygenic risk scores for depression (DEP-PRS) among youth from the Adolescent Brain and Cognitive Development (ABCD) study across diverse brain states, i.e., during resting state, during affective working memory, during response inhibition, during reward processing. Results: Using 10-fold cross-validation with 100 iterations and permutation testing, CPM identified connectivity signatures of DEP-PRS across all examined brain states (rho’s=0.20-0.27, p’s<.001). Across brain states, DEP-PRS was positively predicted by increased connectivity between frontoparietal and salience networks, increased motor-sensory network connectivity, decreased salience to subcortical connectivity, and decreased subcortical to motor-sensory connectivity. Subsampling analyses demonstrated that model accuracies were robust across random subsamples of N’s=1,000, N’s=500, and N’s=250 but became unstable at N’s=100. Conclusions: These data, for the first time, identify neural networks of polygenic depression risk in a large sample of youth before the onset of significant clinical impairment. Identified networks may be considered potential treatment targets or vulnerability markers for depression risk.

Keywords: genetics, functional connectivity, pre-adolescents, depression

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Authors: Adel Khorramrouz, Monireh Ahmadi Bani, Ehsan Norouzi

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Background:-Due to the essential role of the foot in movement, foot disorders (FDs) have significant impacts on activity and quality of life. Many studies confirmed the association between FDs and demographic characteristics. On the other hand, recent advances in data collection and statistical analysis led to an increase in the volume of databases. Analysis of patient’s data through the decision tree can be used to explore the relationship between demographic characteristics and FDs. Significance of the study: This study aimed to investigate the relationship between demographic characteristics with common FDs. The second purpose is to better inform foot intervention, we classify FDs based on demographic variables. Methodologies: We analyzed 2323 subjects with pes-planus (PP), pes-cavus (PC), hallux-valgus (HV) and plantar-fasciitis (PF) who were referred to a foot therapy clinic between 2015 and 2021. Subjects had to fulfill the following inclusion criteria: (1) weight between 14 to 150 kilogram, (2) height between 30 to 220, (3) age between 3 to 100 years old, and (4) BMI between 12 to 35. Medical archives of 2323 subjects were recorded retrospectively and all the subjects examined by an experienced physician. Age and BMI were classified into five and four groups, respectively. 80% of the data were randomly selected as training data and 20% tested. We build a decision tree model to classify FDs using demographic characteristics. Findings: Results demonstrated 981 subjects from 2323 (41.9%) of people who were referred to the clinic with FDs were diagnosed as PP, 657 (28.2%) PC, 628 (27%) HV and 213 (9%) identified with PF. The results revealed that the prevalence of PP decreased in people over 18 years of age and in children over 7 years. In adults, the prevalence depends first on BMI and then on gender. About 10% of adults and 81% of children with low BMI have PP. There is no relationship between gender and PP. PC is more dependent on age and gender. In children under 7 years, the prevalence was twice in girls (10%) than boys (5%) and in adults over 18 years slightly higher in men (62% vs 57%). HV increased with age in women and decreased in men. Aging and obesity have increased the prevalence of PF. We conclude that the accuracy of our approach is sufficient for most research applications in FDs. Conclusion:-The increased prevalence of PP in children is probably due to the formation of the arch of the foot at this age. Increasing BMI by applying high pressure on the foot can increase the prevalence of this disorder in the foot. In PC, the Increasing prevalence of PC from women to men with age may be due to genetics and innate susceptibility of men to this disorder. HV is more common in adult women, which may be due to environmental reasons such as shoes, and the prevalence of PF in obese adult women may also be due to higher foot pressure and housekeeping activities.

Keywords: decision tree, demographic characteristics, foot disorders, machine learning

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Authors: Hoda A. Abdel Hafez

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Mining big data represents a big challenge nowadays. Many types of research are concerned with mining massive amounts of data and big data streams. Mining big data faces a lot of challenges including scalability, speed, heterogeneity, accuracy, provenance and privacy. In telecommunication industry, mining big data is like a mining for gold; it represents a big opportunity and maximizing the revenue streams in this industry. This paper discusses the characteristics of big data (volume, variety, velocity and veracity), data mining techniques and tools for handling very large data sets, mining big data in telecommunication and the benefits and opportunities gained from them.

Keywords: mining big data, big data, machine learning, telecommunication

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Authors: J. DeBoard, R. Dietrich, J. Hughes, K. Yurko, G. Harms

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Alzheimer’s disease (AD) is a predominant type of dementia and is likely a major cause of neural network impairment. The pathogenesis of this neurodegenerative disorder has yet to be fully elucidated. There are currently no known cures for the disease, and the best hope is to be able to detect it early enough to impede its progress. Beyond age and genetics, another prevalent risk factor for AD might be traumatic brain injury (TBI), which has similar neurodegenerative hallmarks. Our research focuses on obtaining information and methods to be able to predict when neurodegenerative effects might occur at a clinical level by observation of events at a cellular and molecular level in model mice. First, we wish to introduce our evidence that brain damage can be observed via brain imaging prior to the noticeable loss of neuromuscular control in model mice of AD. We then show our evidence that some blood biomarkers might be able to be early predictors of AD in the same model mice. Thus, we were interested to see if we might be able to predict which mice might show long-term neurodegenerative effects due to differing degrees of TBI and what level of TBI causes further damage and earlier death to the AD model mice. Upon application of TBIs via an apparatus to effectively induce extremely mild to mild TBIs, wild-type (WT) mice and AD mouse models were tested for cognition, neuromuscular control, olfactory ability, blood biomarkers, and brain imaging. Experiments are currently still in process, and more results are therefore forthcoming. Preliminary data suggest that neuromotor control diminishes as well as olfactory function for both AD and WT mice after the administration of five consecutive mild TBIs. Also, seizure activity increases significantly for both AD and WT after the administration of the five TBI treatment. If future data supports these findings, important implications about the effect of TBI on those at risk for AD might be possible.

Keywords: Alzheimer's disease, blood biomarker, neurodegeneration, neuromuscular control, olfaction, traumatic brain injury

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Authors: Theertha Chandroth

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This paper presents a comparative study on how to check JSON (JavaScript Object Notation) data against XML (eXtensible Markup Language) data from a software testing point of view. JSON and XML are widely used data interchange formats, each with its unique syntax and structure. The objective is to explore various techniques and methodologies for validating comparison and integration between JSON data to XML and vice versa. By understanding the process of checking JSON data against XML data, testers, developers and data practitioners can ensure accurate data representation, seamless data interchange, and effective data validation.

Keywords: XML, JSON, data comparison, integration testing, Python, SQL

Procedia PDF Downloads 140

Authors: Nigar Hussain

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It is a subset of big data. Dark data means those data in which we fail to use for future decisions. There are many issues in existing work, but some need powerful tools for utilizing dark data. It needs sufficient techniques to deal with dark data. That enables users to exploit their excellence, adaptability, speed, less time utilization, execution, and accessibility. Another issue is the way to utilize dark data to extract helpful information to settle on better choices. In this paper, we proposed upgrade strategies to remove the dark side from dark data. Using a supervised model and machine learning techniques, we utilized dark data and achieved an F1 score of 89.48%.

Keywords: big data, dark data, machine learning, heatmap, random forest

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Authors: Jinu Phonamontham

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Coronavirus, also referred to as COVID-19, is a virus caused by the SARS-Cov-2 virus. The pandemic has caused over 10 million cases and 500,000 deaths worldwide through the end of June 2020. In a previous study, HLA-DQA1*01:02 allele was associated with COVID-19 disease (p-value = 0.0121). Furthermore, there was a statistical significance between HLA- DQB1*06:02 and COVID-19 in the Italian population by Bonferroni’s correction (p-value = 0.0016). Nevertheless, there is no data describing the distribution of HLA alleles as a valid marker for prediction of COVID-19 in the Thai population. We want to investigate the prevalence of HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles that are associated with severe COVID-19 in the Thai population. In this study, we recruited 200 healthy Thai individuals. Genomic DNA samples were isolated from EDTA blood using Genomic DNA Mini Kit. HLA genotyping was conducted using the Lifecodes HLA SSO typing kits (Immucor, West Avenue, Stamford, USA). The frequency of HLA-DQA1 alleles in Thai population, consisting of HLA-DQA1*01:01 (27.75%), HLA-DQA1*01:02 (24.50%), HLA-DQA1*03:03 (13.00%), HLA-DQA1*06:01 (10.25%) and HLA-DQA1*02:01 (6.75%). Furthermore, the distributions of HLA-DQB1 alleles were HLA-DQB1*05:02 (21.50%), HLA-DQB1*03:01 (15.75%), HLA-DQB1*05:01 (14.50%), HLA-DQB1*03:03 (11.00%) and HLA-DQB1*02:02 (8.25%). Particularly, HLA- DQA1*01:02 (29.00%) allele was the highest frequency in the NorthEast group, but there was not significant difference when compared with the other regions in Thais (p-value = 0.4202). HLA-DQB1*06:02 allele was similarly distributed in Thai population and there was no significant difference between Thais and China (3.8%) and South Korea (6.4%) and Japan (8.2%) with p-value > 0.05. Whereas, South Africa (15.7%) has a significance with Thais by p-value of 0.0013. This study supports the specific genotyping of the HLA-DQA1*01:02 and HLA-DQB1*06:02 alleles to screen severe COVID-19 in Thai and many populations.

Keywords: HLA-DQA1*01:02, HLA-DQB1*06:02, Asian, Thai population

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Authors: Bolin Hua

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In city governance, various data are involved, including city component data, demographic data, housing data and all kinds of business data. These data reflects different aspects of people, events and activities. Data generated from various systems are different in form and data source are different because they may come from different sectors. In order to reflect one or several facets of an event or rule, data from multiple sources need fusion together. Data from different sources using different ways of collection raised several issues which need to be resolved. Problem of data fusion include data update and synchronization, data exchange and sharing, file parsing and entry, duplicate data and its comparison, resource catalogue construction. Governments adopt statistical analysis, time series analysis, extrapolation, monitoring analysis, value mining, scenario prediction in order to achieve pattern discovery, law verification, root cause analysis and public opinion monitoring. The result of Multi-source data fusion is to form a uniform central database, which includes people data, location data, object data, and institution data, business data and space data. We need to use meta data to be referred to and read when application needs to access, manipulate and display the data. A uniform meta data management ensures effectiveness and consistency of data in the process of data exchange, data modeling, data cleansing, data loading, data storing, data analysis, data search and data delivery.

Keywords: multi-source data fusion, urban comprehensive management, information fusion, government data

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Authors: Atsuko Okazaki, Jurg Ott

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Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

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Authors: Sajjad Baghernezhad, Saeideh Baghernezhad

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Nowadays considering human involved in increasing data development some methods such as data mining to extract science are unavoidable. One of the discussions of data mining is inherent distribution of the data usually the bases creating or receiving such data belong to corporate or non-corporate persons and do not give their information freely to others. Yet there is no guarantee to enable someone to mine special data without entering in the owner’s privacy. Sending data and then gathering them by each vertical or horizontal software depends on the type of their preserving type and also executed to improve data privacy. In this study it was attempted to compare comprehensively preserving data methods; also general methods such as random data, coding and strong and weak points of each one are examined.

Keywords: data mining, distributed data mining, privacy protection, privacy preserving

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Authors: Roman Bieda

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The General Data Protection Regulation (GDPR) will come into force on 25 May 2018 which will create a new legal framework for the protection of personal data in the European Union. Article 20 of GDPR introduces a right to data portability. This right allows for data subjects to receive the personal data which they have provided to a data controller, in a structured, commonly used and machine-readable format, and to transmit this data to another data controller. The right to data portability, by facilitating transferring personal data between IT environments (e.g.: applications), will also facilitate changing the provider of services (e.g. changing a bank or a cloud computing service provider). Therefore, it will contribute to the development of competition and the digital market. The aim of this paper is to discuss the right to data portability and its influence on the development of new digital services.

Keywords: data portability, digital market, GDPR, personal data

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Authors: Lesley Northrop, Justin DeGrazia, Jessica Greenwood

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ASPIRA Labs now offers an en-suit and ready-to-implement technology transfer solution to enable labs and hospitals that lack the resources to build it themselves to offer in-house genetic testing. This unique platform employs a patented Molecular Inversion Probe (MIP) technology that combines the specificity of a hybrid capture protocol with the ease of an amplicon-based protocol and utilizes an advanced bioinformatics analysis pipeline based on machine learning. To demonstrate its efficacy, two independent genetic tests were validated on this technology transfer platform: expanded carrier screening (ECS) and hereditary cancer testing (HC). The analytical performance of ECS and HC was validated separately in a blinded manner for calling three different types of variants: SNVs, short indels (typically, <50 bp), and large indels/CNVs defined as multi-exonic del/dup events. The reference set was constructed using samples from Coriell Institute, an external clinical genetic testing laboratory, Maine Molecular Quality Controls Inc. (MMQCI), SeraCare and GIAB Consortium. Overall, the analytical performance showed a sensitivity and specificity of >99.4% for both ECS and HC in detecting SNVs. For indels, both tests reported specificity of 100%, and ECS demonstrated a sensitivity of 100%, whereas HC exhibited a sensitivity of 96.5%. The bioinformatics pipeline also correctly called all reference CNV events resulting in a sensitivity of 100% for both tests. No additional calls were made in the HC panel, leading to a perfect performance (specificity and F-measure of 100%). In the carrier panel, however, three additional positive calls were made outside the reference set. Two of these calls were confirmed using an orthogonal method and were re-classified as true positives leaving only one false positive. The pipeline also correctly identified all challenging carrier statuses, such as positive cases for spinal muscular atrophy and alpha-thalassemia, resulting in 100% sensitivity. After confirmation of additional positive calls via long-range PCR and MLPA, specificity for such cases was estimated at 99%. These performance metrics demonstrate that this tech-transfer solution can be confidently internalized by clinical labs and hospitals to offer mainstream ECS and HC as part of their test catalog, substantially increasing access to quality germline genetic testing for labs of all sizes and resources levels.

Keywords: clinical genetics, genetic testing, molecular genetics, technology transfer

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Authors: Fahad Hanash Alzahrani

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This paper describes some recent advances in a quickly developing area of data storing and processing based on Data Warehouses and Data Mining techniques, which are associated with software, hardware, data mining algorithms and visualisation techniques having common features for any specific problems and tasks of their implementation.

Keywords: data warehouse, data mining, knowledge discovery in databases, on-line analytical processing

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Authors: Mehmet Akif Aslan, Mehmet Simsek, Eyup Sensoy

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Big Data stands for today’s cutting-edge technology. As the technology becomes widespread, so does Data. Utilizing massive data sets enable companies to get competitive advantages over their adversaries. Out of many area of Big Data usage, logistics has significance role in both commercial sector and military. This paper lays out what big data is and how it is used in both military and commercial logistics.

Keywords: big data, logistics, operational efficiency, risk management

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Ehsan Soleymaninejadian

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As the field of immunology is growing day by day, and its chaotic system amazes more people, greed of research in this area is growing; however dealing with human or mammalian cells such as mice make the research expensive. Although there are some differences between higher animals with insects, importance of innate immunity during evolution made it untouched. So, for understanding the innate immunity insects can be good models. They are cheap; reproduction is fast and in the case genetics, less complicated. In this review, we tried to briefly tackle with important factors in insects’ innate immunity such as melanization, encapsulation, JAK-STAT, IMD, and Toll pathways. At the end, we explained how hormones and nerve system also can impact on immune system and make it more beautiful. In concluding remarks, the possibility of taking help from insect immune system to fight against diseases such as cancer has been considered.

Keywords: insects, innate immunity, melanization, intracellular pathways, hormones

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Authors: Nidhi Gadura

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Given the increase in the number of students and administrators asking for online courses the author developed two partially online courses. One was a biology majors at genetics course while the other was a non-majors at biology course. The student body at Queensborough Community College is generally underprepared and has work and family obligations. As an educator, one has to be mindful about changing the pedagogical approach, therefore, special care was taken when designing the course material. Despite the initial concerns, both of these partially online courses were received really well by students. Lessons learnt were that student engagement is the key to success in an online course. Good practices to run a successful online course for underprepared students are discussed in this paper. Also discussed are the lessons learnt for making the eLearning environment better for all the students in the class, overachievers and underachievers alike.

Keywords: partially online course, pedagogy, student engagement, community college

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Authors: Pratiksha Dubey, Praveen Singh, Shantanu Sen Gupta, Anand K. Bachhawat

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5-oxoproline (pyroglutamic acid) is a cyclic lactam of glutamic acid. In the cell, it can be produced by several different pathways and is metabolized into glutamate with the help of the 5-oxoprolinase enzyme (OPLAH or OXP1). The inhibition of 5-oxoprolinase enzyme in mammals was found to result in heart failure and is thought to be a consequence of oxidative stress [1]. To analyze the consequences of 5-oxoproline accumulation more clearly, we are generating models for 5-oxoproline accumulation in yeast. The 5-oxoproline accumulation model in yeast is being developed by two different strategies. The first one is by overexpression of the mouse  -glutamylcyclotransferase enzyme. It degrades -glu-met dipeptide into 5-oxoproline and methionine taken by the cell from the medium. The second strategy is by providing high concentration of 5-oxoproline externally to the yeast cells. The intracellular 5-oxoproline levels in both models are being evaluated. In addition, the metabolic and cellular consequences are being investigated.

Keywords: 5-oxoproline, pyroglutamic acid, yeast, genetics

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Authors: G. Tamilpavai, C. Vishnuppriya

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Bioinformatics is an active research area which combines biological matter as well as computer science research. The longest common subsequence (LCSS) is one of the major challenges in various bioinformatics applications. The computation of the LCSS plays a vital role in biomedicine and also it is an essential task in DNA sequence analysis in genetics. It includes wide range of disease diagnosing steps. The objective of this proposed system is to find the longest common subsequence which presents in a normal and various disease affected human DNA sequence using Self Organizing Map (SOM) and LCSS. The human DNA sequence is collected from National Center for Biotechnology Information (NCBI) database. Initially, the human DNA sequence is separated as k-mer using k-mer separation rule. Mean and median values are calculated from each separated k-mer. These calculated values are fed as input to the Self Organizing Map for the purpose of clustering. Then obtained clusters are given to the Longest Common Sub Sequence (LCSS) algorithm for finding common subsequence which presents in every clusters. It returns nx(n-1)/2 subsequence for each cluster where n is number of k-mer in a specific cluster. Experimental outcomes of this proposed system produce the possible number of longest common subsequence of normal and disease affected DNA data. Thus the proposed system will be a good initiative aid for finding disease causing sequence. Finally, performance analysis is carried out for different DNA sequences. The obtained values show that the retrieval of LCSS is done in a shorter time than the existing system.

Keywords: clustering, k-mers, longest common subsequence, SOM

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Authors: Jihyun Song, Kyeongjoo Kim, Minsoo Lee

Abstract:

Due to the development of information technology and wireless Internet technology, various data are being generated in various fields. These data are advantageous in that they provide real-time information to the users themselves. However, when the data are accumulated and analyzed, more various information can be extracted. In addition, development and dissemination of boards such as Arduino and Raspberry Pie have made it possible to easily test various sensors, and it is possible to collect sensor data directly by using database application tools such as MySQL. These directly collected data can be used for various research and can be useful as data for data mining. However, there are many difficulties in using the board to collect data, and there are many difficulties in using it when the user is not a computer programmer, or when using it for the first time. Even if data are collected, lack of expert knowledge or experience may cause difficulties in data analysis and visualization. In this paper, we aim to construct a library for sensor data collection and analysis to overcome these problems.

Keywords: clustering, data mining, DBSCAN, k-means, k-medoids, sensor data

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Authors: Ajay B. C., Meena H. N., Dagla M. C., Narendra Kumar, Makwana A. D., Bera S. K., Kalariya K. A., Singh A. L.

Abstract:

The high-energy value, protein content and minerals makes peanut a rich source of nutrition at comparatively low cost. Basic information on genetics and inheritance of these mineral elements is very scarce. Hence, in the present study inheritance (using additive-dominance model) and association of mineral elements was studied in two peanut crosses. Dominance variance (H) played an important role in the inheritance of P, K, Fe and Zn in peanut pods. Average degree of dominance for most of the traits was greater than unity indicating over dominance for these traits. Significant associations were also observed among mineral elements both in F2 and F3 generations but pod yield had no associations with mineral elements (with few exceptions). Di-allele/bi-parental mating could be followed to identify high yielding and mineral dense segregates.

Keywords: correlation, dominance variance, mineral elements, peanut

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Authors: Syed Iftikhar Hussain Shah, Vasilis Peristeras, Ioannis Magnisalis

Abstract:

Organizations, including governments, generate (big) data that are high in volume, velocity, veracity, and come from a variety of sources. Public Administrations are using (big) data, implementing base registries, and enforcing data sharing within the entire government to deliver (big) data related integrated services, provision of insights to users, and for good governance. Government (Big) data ecosystem actors represent distinct entities that provide data, consume data, manipulate data to offer paid services, and extend data services like data storage, hosting services to other actors. In this research work, we perform a systematic literature review. The key objectives of this paper are to propose a robust definition of government (big) data ecosystem and a classification of government (big) data ecosystem actors and their roles. We showcase a graphical view of actors, roles, and their relationship in the government (big) data ecosystem. We also discuss our research findings. We did not find too much published research articles about the government (big) data ecosystem, including its definition and classification of actors and their roles. Therefore, we lent ideas for the government (big) data ecosystem from numerous areas that include scientific research data, humanitarian data, open government data, industry data, in the literature.

Keywords: big data, big data ecosystem, classification of big data actors, big data actors roles, definition of government (big) data ecosystem, data-driven government, eGovernment, gaps in data ecosystems, government (big) data, public administration, systematic literature review

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Authors: Ammara Jabeen

Abstract:

This survey report aims to find the interventions and their effectiveness that are being used globally as well as in Pakistan to treat autistic kids. ‘Autism spectrum disorder (ASD) is a state associated with brain development that shows ‘how a person perceives and socializes with others, causing problems in social interaction and communication’. Besides these problems, these children suffer from restricted and repetitive behaviors too. The term ‘Spectrum’ in Autism Spectrum Disorder refers to the wide range of symptoms and severity. The main cause of this Autism Spectrum Disorder is not known yet, but the research showed that genetics and environmental factors play important roles. In this survey report, after a literature review, some of the possible solutions are suggested based on the most common problems that these children are currently facing in their daily lives. Based on this report, we are able to overcome the lack of the resources (e.g. language, cost, training etc.) that mostly exist in Pakistani culture.

Keywords: autism, interventions, spectrum, disorder

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Authors: Syed Iftikhar Hussain Shah, Vasilis Peristeras, Ioannis Magnisalis

Abstract:

Data that is high in volume, velocity, veracity and comes from a variety of sources is usually generated in all sectors including the government sector. Globally public administrations are pursuing (big) data as new technology and trying to adopt a data-centric architecture for hosting and sharing data. Properly executed, big data and data analytics in the government (big) data ecosystem can be led to data-driven government and have a direct impact on the way policymakers work and citizens interact with governments. In this research paper, we conduct a systematic literature review. The main aims of this paper are to highlight essential aspects of the government (big) data ecosystem and to explore the most critical socio-technical factors that contribute to the successful implementation of government (big) data ecosystem. The essential aspects of government (big) data ecosystem include definition, data types, data lifecycle models, and actors and their roles. We also discuss the potential impact of (big) data in public administration and gaps in the government data ecosystems literature. As this is a new topic, we did not find specific articles on government (big) data ecosystem and therefore focused our research on various relevant areas like humanitarian data, open government data, scientific research data, industry data, etc.

Keywords: applications of big data, big data, big data types. big data ecosystem, critical success factors, data-driven government, egovernment, gaps in data ecosystems, government (big) data, literature review, public administration, systematic review

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Authors: Anli Du Preez, James Bekker

Abstract:

Data is currently one of the most critical and influential emerging technologies. However, the true potential of data is yet to be exploited since, currently, about 1% of generated data are ever actually analyzed for value creation. There is a data gap where data is not explored due to the lack of data analytics infrastructure and the required data analytics skills. This study developed a decision support framework for data analytics by following Jabareen’s framework development methodology. The study focused on machine learning algorithms, which is a subset of data analytics. The developed framework is designed to assist data analysts with little experience, in choosing the appropriate machine learning algorithm given the purpose of their application.

Keywords: Data analytics, Industrial engineering, Machine learning, Value creation

Procedia PDF Downloads 168