Search results for: genetic testing
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4477

Search results for: genetic testing

3697 An Improved Data Aided Channel Estimation Technique Using Genetic Algorithm for Massive Multi-Input Multiple-Output

Authors: M. Kislu Noman, Syed Mohammed Shamsul Islam, Shahriar Hassan, Raihana Pervin

Abstract:

With the increasing rate of wireless devices and high bandwidth operations, wireless networking and communications are becoming over crowded. To cope with such crowdy and messy situation, massive MIMO is designed to work with hundreds of low costs serving antennas at a time as well as improve the spectral efficiency at the same time. TDD has been used for gaining beamforming which is a major part of massive MIMO, to gain its best improvement to transmit and receive pilot sequences. All the benefits are only possible if the channel state information or channel estimation is gained properly. The common methods to estimate channel matrix used so far is LS, MMSE and a linear version of MMSE also proposed in many research works. We have optimized these methods using genetic algorithm to minimize the mean squared error and finding the best channel matrix from existing algorithms with less computational complexity. Our simulation result has shown that the use of GA worked beautifully on existing algorithms in a Rayleigh slow fading channel and existence of Additive White Gaussian Noise. We found that the GA optimized LS is better than existing algorithms as GA provides optimal result in some few iterations in terms of MSE with respect to SNR and computational complexity.

Keywords: channel estimation, LMMSE, LS, MIMO, MMSE

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3696 Estimation of Optimum Parameters of Non-Linear Muskingum Model of Routing Using Imperialist Competition Algorithm (ICA)

Authors: Davood Rajabi, Mojgan Yazdani

Abstract:

Non-linear Muskingum model is an efficient method for flood routing, however, the efficiency of this method is influenced by three applied parameters. Therefore, efficiency assessment of Imperialist Competition Algorithm (ICA) to evaluate optimum parameters of non-linear Muskingum model was addressed through this study. In addition to ICA, Genetic Algorithm (GA) and Particle Swarm Optimization (PSO) were also used aiming at an available criterion to verdict ICA. In this regard, ICA was applied for Wilson flood routing; then, routing of two flood events of DoAab Samsami River was investigated. In case of Wilson flood that the target function was considered as the sum of squared deviation (SSQ) of observed and calculated discharges. Routing two other floods, in addition to SSQ, another target function was also considered as the sum of absolute deviations of observed and calculated discharge. For the first floodwater based on SSQ, GA indicated the best performance, however, ICA was on first place, based on SAD. For the second floodwater, based on both target functions, ICA indicated a better operation. According to the obtained results, it can be said that ICA could be used as an appropriate method to evaluate the parameters of Muskingum non-linear model.

Keywords: Doab Samsami river, genetic algorithm, imperialist competition algorithm, meta-exploratory algorithms, particle swarm optimization, Wilson flood

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3695 Genetic Divergence Study of Rice on the Basis of Various Morphological Traits

Authors: Muhammad Ashfaq, Muhammad Saleem Haider, Muhammad Ali, Muhammad Sajjad, Amna Ali, Urooj Mubashar

Abstract:

Phenotypic diversity was confirmed by measuring different morphological traits i.e. seed traits (seed length, seed width, seed thickness, seed length-width ratio, 1000 grain weight) and root-shoot traits (shoot length, root length, shoot fresh weight, root fresh weight, root-shoot ratio, root numbers and root thickness). Variance and association study of desirable traits determine the genotypic differences among the rice germplasm. All the traits showed significant differences among the genotypes. The traits were studied in Randomized complete block design (RCBD) at different water levels. Some traits showed positive correlation with each other and beneficial for increasing the yield and production of the crop. Seed thickness has positive correlation with seed length and seed width (r= 0.104**, r=0.246**). On the other hand, various root shoot traits showed positive highly significant association at different water levels i.e. root length, fresh root weight, root thickness, shoot thickness and root numbers. Our main focus to study the performance/correlation of root shoots traits under stress condition. Fresh root weight, shoot thickness and root numbers showed positive significant association with shoot length, root length, fresh root and shoot weight (r=0.2530**, r=0.2891**, r=0.4626**, r=0.4515**, r=0.5781**, r=0.7164**, r=0.0603**, r= 0.5570**, r=0.5824**). Long root length genotypes favors and suitable for drought stress conditions and screening of diverse genotypes for the further development of new plant material that performing well under different environmental conditions. After screening genetic diversity of potential rice, lines were studied to check the polymorphism by using some SSR markers. DNA was extracted, and PCR analyses were done to study PIC values and allelic diversity of the genotypes. The main objective of this study is to screen out the genotypes on the basis of various genotypic and phenotypic traits.

Keywords: rice, morphological traits, association, germplasm, genetic diversity, water levels, variation

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3694 Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

Abstract:

Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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3693 Tailoring of ECSS Standard for Space Qualification Test of CubeSat Nano-Satellite

Authors: B. Tiseo, V. Quaranta, G. Bruno, G. Sisinni

Abstract:

There is an increasing demand of nano-satellite development among universities, small companies, and emerging countries. Low-cost and fast-delivery are the main advantages of such class of satellites achieved by the extensive use of commercial-off-the-shelf components. On the other side, the loss of reliability and the poor success rate are limiting the use of nano-satellite to educational and technology demonstration and not to the commercial purpose. Standardization of nano-satellite environmental testing by tailoring the existing test standard for medium/large satellites is then a crucial step for their market growth. Thus, it is fundamental to find the right trade-off between the improvement of reliability and the need to keep their low-cost/fast-delivery advantages. This is particularly even more essential for satellites of CubeSat family. Such miniaturized and standardized satellites have 10 cm cubic form and mass no more than 1.33 kilograms per 1 unit (1U). For this class of nano-satellites, the qualification process is mandatory to reduce the risk of failure during a space mission. This paper reports the description and results of the space qualification test campaign performed on Endurosat’s CubeSat nano-satellite and modules. Mechanical and environmental tests have been carried out step by step: from the testing of the single subsystem up to the assembled CubeSat nano-satellite. Functional tests have been performed during all the test campaign to verify the functionalities of the systems. The test duration and levels have been selected by tailoring the European Space Agency standard ECSS-E-ST-10-03C and GEVS: GSFC-STD-7000A.

Keywords: CubeSat, nano-satellite, shock, testing, vibration

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3692 A Comparison of South East Asian Face Emotion Classification based on Optimized Ellipse Data Using Clustering Technique

Authors: M. Karthigayan, M. Rizon, Sazali Yaacob, R. Nagarajan, M. Muthukumaran, Thinaharan Ramachandran, Sargunam Thirugnanam

Abstract:

In this paper, using a set of irregular and regular ellipse fitting equations using Genetic algorithm (GA) are applied to the lip and eye features to classify the human emotions. Two South East Asian (SEA) faces are considered in this work for the emotion classification. There are six emotions and one neutral are considered as the output. Each subject shows unique characteristic of the lip and eye features for various emotions. GA is adopted to optimize irregular ellipse characteristics of the lip and eye features in each emotion. That is, the top portion of lip configuration is a part of one ellipse and the bottom of different ellipse. Two ellipse based fitness equations are proposed for the lip configuration and relevant parameters that define the emotions are listed. The GA method has achieved reasonably successful classification of emotion. In some emotions classification, optimized data values of one emotion are messed or overlapped to other emotion ranges. In order to overcome the overlapping problem between the emotion optimized values and at the same time to improve the classification, a fuzzy clustering method (FCM) of approach has been implemented to offer better classification. The GA-FCM approach offers a reasonably good classification within the ranges of clusters and it had been proven by applying to two SEA subjects and have improved the classification rate.

Keywords: ellipse fitness function, genetic algorithm, emotion recognition, fuzzy clustering

Procedia PDF Downloads 544
3691 Whole Coding Genome Inter-Clade Comparison to Predict Global Cancer-Protecting Variants

Authors: Lamis Naddaf, Yuval Tabach

Abstract:

In this research, we identified the missense genetic variants that have the potential to enhance resistance against cancer. Such field has not been widely explored, as researchers tend to investigate mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution, and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and can have significant implications on improved risk estimation, diagnostics, prognosis and even for personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and picked up the alleles that showed a correlation with the species’ cancer resistance. We predicted 250 protecting variants (PVs) with a 0.01 false discovery rate and more than 20 thousand PVs with a 0.25 false discovery rate. Cancer resistance in Mammals and reptiles was significantly predicted by the number of PVs a species has. Moreover, Genes enriched with the protecting variants are enriched in pathways relevant to tumor suppression like pathways of Hedgehog signaling and silencing, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are more abundant in healthy people compared to cancer patients within different human races.

Keywords: comparative genomics, machine learning, cancer resistance, cancer-protecting alleles

Procedia PDF Downloads 94
3690 Mapping QTLs Associated with Salinity Tolerance in Maize at Seedling Stage

Authors: Mohammad Muhebbullah Ibne Hoque, Zheng Jun, Wang Guoying

Abstract:

Salinity stress is one of the most important abiotic factors contributing to crop growth and yield loss. Exploring the genetic basis is necessary to develop maize varieties with salinity tolerance. In order to discover the inherent basis for salinity tolerance traits in maize, 121 polymorphic SSR markers were used to analyze 163 F2 individuals derived from a single cross of inbred line B73 (a salt susceptible inbred line) and CZ-7 (a salt tolerant inbred line). A linkage map was constructed and the map covered 1195.2 cM of maize genome with an average distance of 9.88 cM between marker loci. Ten salt tolerance traits at seedling stage were evaluated for QTL analysis in maize seedlings. A total of 41 QTLs associated with seedling shoot and root traits were detected, with 16 and 25 QTLs under non-salinity and salinity condition, respectively. And only 4 major stable QTLs were detected in two environments. The detected QTLs were distributed on chromosomes 1, 2, 4, 5, 6, 7, 8, 9, and chromosome 10. Phenotypic variability for the identified QTLs for all the traits was in the range from 6.27 to 21.97%. Fourteen QTLs with more than 10% contributions were observed. Our results and the markers associated with the major QTL detected in this study have the potential application for genetic improvement of salt tolerance in maize through marker-assisted selection.

Keywords: salt tolerance, seedling stage, root shoot traits, quantitative trait loci, simple sequence repeat, maize

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3689 An Application of Meta-Modeling Methods for Surrogating Lateral Dynamics Simulation in Layout-Optimization for Electric Drivetrains

Authors: Christian Angerer, Markus Lienkamp

Abstract:

Electric vehicles offer a high variety of possible drivetrain topologies with up to 4 motors. Multi-motor-designs can have several advantages regarding traction, vehicle dynamics, safety and even efficiency. With a rising number of motors, the whole drivetrain becomes more complex. All permutations of gearings, drivetrain-layouts, motor-types and –sizes lead up in a very large solution space. Single elements of this solution space can be analyzed by simulation methods. In addition to longitudinal vehicle behavior, which most optimization-approaches are restricted to, also lateral dynamics are important for vehicle dynamics, stability and efficiency. In order to compete large solution spaces and to find an optimal result, genetic algorithm based optimization is state-of-the-art. As lateral dynamics simulation is way more CPU-intensive, optimization takes much more time than in case of longitudinal-only simulation. Therefore, this paper shows an approach how to create meta-models from a 14-degree of freedom vehicle model in order to enable a numerically efficient drivetrain-layout optimization process under consideration of lateral dynamics. Different meta-modelling approaches such as neural networks or DoE are implemented and comparatively discussed.

Keywords: driving dynamics, drivetrain layout, genetic optimization, meta-modeling, lateral dynamicx

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3688 Cellulose Enhancement in Wood Used in Pulp Production by Overexpression of Korrigan and Sucrose Synthase Genes

Authors: Anil Kumar, Diwakar Aggarwal, M. Sudhakara Reddy

Abstract:

The wood of Eucalyptus, Populus and bamboos are some important species used as raw material for the manufacture of pulp. However, higher levels of lignin pose a problem during Kraft pulping and yield of pulp is also lower. In order to increase the yield of pulp per unit wood and reduce the use of chemicals during kraft pulping it is important to reduce the lignin content and/or increase cellulose content in wood. Cellulose biosynthesis in wood takes place by the coordinated action of many enzymes. The two important enzymes are KORRIGAN and SUCROSE SYNTHASE. KORRIGAN (Endo-1,4--glucanase) is implicated in the process of editing growing cellulose chains and improvement of the crystallinity of produced cellulose, whereas SUCROSE SYNTHASE is involved in providing substrate (UDP-glucose) for growing cellulose chains. The present study was aimed at the cloning, characterization and overexpression of these genes in Eucalyptus and Populus. An efficient shoot organogenesis protocol from leaf explants taken from micro shoots of the species has been developed. Agrobacterium mediated genetic transformation using Agrobacterium tumefaciens strain EHA105 and LBA4404 harboring binary vector pBI121 was achieved. Both the genes were cloned from cDNA library of Populus deltoides. These were subsequently characterized using various bioinformatics tools. The cloned genes were then inserted into pBI121 under the CaMV35S promotors replacing GUS gene. The constructs were then mobilized into above strains of Agrobacterium and used for the transformation work. Subsequently, genetic transformation of these clones with target genes following already developed protocol is in progress. Four transgenic lines of Eucalyptus tereticornis overexpressing Korrigan gene under the strong constitutive promoters CaMV35S have been developed, which are being further evaluated. Work on development of more transgenic lines overexpressing these genes in Populus and Eucalyptus is also in progress. This presentation will focus on important developments in this direction.

Keywords: Eucalyptus tereticornis, genetic transformation, Kraft pulping Populus deltoides

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3687 Urinary Volatile Organic Compound Testing in Fast-Track Patients with Suspected Colorectal Cancer

Authors: Godwin Dennison, C. E. Boulind, O. Gould, B. de Lacy Costello, J. Allison, P. White, P. Ewings, A. Wicaksono, N. J. Curtis, A. Pullyblank, D. Jayne, J. A. Covington, N. Ratcliffe, N. K. Francis

Abstract:

Background: Colorectal symptoms are common but only infrequently represent serious pathology, including colorectal cancer (CRC). A large number of invasive tests are presently performed for reassurance. We investigated the feasibility of urinary volatile organic compound (VOC) testing as a potential triage tool in patients fast-tracked for assessment for possible CRC. Methods: A prospective, multi-centre, observational feasibility study was performed across three sites. Patients referred on NHS fast-track pathways for potential CRC provided a urine sample which underwent Gas Chromatography Mass Spectrometry (GC-MS), Field Asymmetric Ion Mobility Spectrometry (FAIMS) and Selected Ion Flow Tube Mass Spectrometry (SIFT-MS) analysis. Patients underwent colonoscopy and/or CT colonography and were grouped as either CRC, adenomatous polyp(s), or controls to explore the diagnostic accuracy of VOC output data supported by an artificial neural network (ANN) model. Results: 558 patients participated with 23 (4.1%) CRC diagnosed. 59% of colonoscopies and 86% of CT colonographies showed no abnormalities. Urinary VOC testing was feasible, acceptable to patients, and applicable within the clinical fast track pathway. GC-MS showed the highest clinical utility for CRC and polyp detection vs. controls (sensitivity=0.878, specificity=0.882, AUROC=0.884). Conclusion: Urinary VOC testing and analysis are feasible within NHS fast-track CRC pathways. Clinically meaningful differences between patients with cancer, polyps, or no pathology were identified therefore suggesting VOC analysis may have future utility as a triage tool. Acknowledgment: Funding: NIHR Research for Patient Benefit grant (ref: PB-PG-0416-20022).

Keywords: colorectal cancer, volatile organic compound, gas chromatography mass spectrometry, field asymmetric ion mobility spectrometry, selected ion flow tube mass spectrometry

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3686 Limits of the Dot Counting Test: A Culturally Responsive Approach to Neuropsychological Evaluations and Treatment

Authors: Erin Curtis, Avraham Schwiger

Abstract:

Neuropsychological testing and evaluation is a crucial step in providing patients with effective diagnoses and treatment while in clinical care. The variety of batteries used in these evaluations can help clinicians better understand the nuanced declivities in a patient’s cognitive, behavioral, or emotional functioning, consequently equipping clinicians with the insights to make intentional choices about a patient’s care. Despite the knowledge these batteries can yield, some aspects of neuropsychological testing remain largely inaccessible to certain patient groups as a result of fundamental cultural, educational, or social differences. One such battery includes the Dot Counting Test (DCT), during which patients are required to count a series of dots on a page as rapidly and accurately as possible. As the battery progresses, the dots appear in clusters that are designed to be easily multiplied. This task evaluates a patient’s cognitive functioning, attention, and level of effort exerted on the evaluation as a whole. However, there is evidence to suggest that certain social groups, particularly Latinx groups, may perform worse on this task as a result of cultural or educational differences, not reduced cognitive functioning or effort. As such, this battery fails to account for baseline differences among patient groups, thus creating questions surrounding the accuracy, generalizability, and value of its results. Accessibility and cultural sensitivity are critical considerations in the testing and treatment of marginalized groups, yet have been largely ignored in the literature and in clinical settings to date. Implications and improvements to applications are discussed.

Keywords: culture, latino, neuropsychological assessment, neuropsychology, accessibility

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3685 Assessment of Age-Friendliness in Rural Areas: An Investigation of Content Validity

Authors: Barbara Erjauz, Juliane Eichhorn

Abstract:

Background and Purpose: The world´s population is rapidly aging, wherefore the World Health Organization (WHO) is dealing with concepts of Age-Friendly-Communities and criteria to define them. Also in Germany, we can find an aging population and a large amount of seniors is living in rural areas. Those regions are defined by unique social and environmental characteristics, which can enhance or decrease age-friendliness. To identify and work with these characteristics, we are in need of appropriate assessment instruments. To the author’s best knowledge until now, no instrument could be identified as suitable and scientifically proven for the German speaking area. The aim of the study was to identify an assessment instrument to measure the age-friendliness of rural communities and its psychometric testing regarding the content validity. Methods: A literature search was carried out to identify instruments related to concepts of Age-Friendly-Communities. According to the German situation, an instrument was chosen and modified based on a Delphi-study. In this context, the content validity was investigated by calculating the Content Validity Index (CVI). Results: An instrument consisting of 86 items based on WHO indicators and the German situation in rural areas was created. 43 items (50%) had a Content Validity Index for Items (I-CVI) of 1,00, 37 items (43%) had an I-CVI of >0,78 and > 1.00, and 6 items had an I-CVI of >0,78. The value of the Content Validity Index for Scales, averaging calculation method (S-CVI/Ave) for the entire scale was 0,91. Conclusions: The results indicate a good content validity and it can be concluded that the created instrument represents the phenomenon of age-friendliness in rural areas. Nevertheless, further psychometric testing related to reliability, validity and responsiveness is recommended.

Keywords: assessment, age-friendly, rural, psychometric testing

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3684 Arbitrarily Shaped Blur Kernel Estimation for Single Image Blind Deblurring

Authors: Aftab Khan, Ashfaq Khan

Abstract:

The research paper focuses on an interesting challenge faced in Blind Image Deblurring (BID). It relates to the estimation of arbitrarily shaped or non-parametric Point Spread Functions (PSFs) of motion blur caused by camera handshake. These PSFs exhibit much more complex shapes than their parametric counterparts and deblurring in this case requires intricate ways to estimate the blur and effectively remove it. This research work introduces a novel blind deblurring scheme visualized for deblurring images corrupted by arbitrarily shaped PSFs. It is based on Genetic Algorithm (GA) and utilises the Blind/Reference-less Image Spatial QUality Evaluator (BRISQUE) measure as the fitness function for arbitrarily shaped PSF estimation. The proposed BID scheme has been compared with other single image motion deblurring schemes as benchmark. Validation has been carried out on various blurred images. Results of both benchmark and real images are presented. Non-reference image quality measures were used to quantify the deblurring results. For benchmark images, the proposed BID scheme using BRISQUE converges in close vicinity of the original blurring functions.

Keywords: blind deconvolution, blind image deblurring, genetic algorithm, image restoration, image quality measures

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3683 THRAP2 Gene Identified as a Candidate Susceptibility Gene of Thyroid Autoimmune Diseases Pedigree in Tunisian Population

Authors: Ghazi Chabchoub, Mouna Feki, Mohamed Abid, Hammadi Ayadi

Abstract:

Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), are inherited as complex traits. Genetic factors associated with AITDs have been tentatively identified by candidate gene and genome scanning approaches. We analysed three intragenic microsatellite markers in the thyroid hormone receptor associated protein 2 gene (THRAP2), mapped near D12S79 marker, which have a potential role in immune function and inflammation [THRAP2-1(TG)n, THRAP2-2 (AC)n and THRAP2-3 (AC)n]. Our study population concerned 12 patients affected with AITDs belonging to a multiplex Tunisian family with high prevalence of AITDs. Fluorescent genotyping was carried out on ABI 3100 sequencers (Applied Biosystems USA) with the use of GENESCAN for semi-automated fragment sizing and GENOTYPER peak-calling software. Statistical analysis was performed using the non parametric Lod score (NPL) by Merlin software. Merlin outputs non-parametric NPLall (Z) and LOD scores and their corresponding asymptotic P values. The analysis for three intragenic markers in the THRAP2 gene revealed strong evidence for linkage (NPL=3.68, P=0.00012). Our results suggested the possible role of THRAP2 gene in AITDs susceptibility in this family.

Keywords: autoimmunity, autoimmune disease, genetic, linkage analysis

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3682 Monitoring a Membrane Structure Using Non-Destructive Testing

Authors: Gokhan Kilic, Pelin Celik

Abstract:

Structural health monitoring (SHM) is widely used in evaluating the state and health of membrane structures. In the past, in order to collect data and send it to a data collection unit on membrane structures, wire sensors had to be put as part of the SHM process. However, this study recommends using wireless sensors instead of traditional wire ones to construct an economical, useful, and easy-to-install membrane structure health monitoring system. Every wireless sensor uses a software translation program that is connected to the monitoring server. Operational neural networks (ONNs) have recently been developed to solve the shortcomings of convolutional neural networks (CNNs), such as the network's resemblance to the linear neuron model. The results of using ONNs for monitoring to evaluate the structural health of a membrane are presented in this work.

Keywords: wireless sensor network, non-destructive testing, operational neural networks, membrane structures, dynamic monitoring

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3681 Whole Coding Genome Inter-Clade Comparisons to Predict Global Cancer-Protecting Variants

Authors: Lamis Naddaf, Yuval Tabach

Abstract:

We identified missense genetic variants with the potential to enhance resistance against cancer. Such a field has not been widely explored as researchers tend to investigate the mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and have significant implications for improved risk estimation, diagnostics, prognosis, and even personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and selected the alleles that showed a correlation with the species’ cancer resistance. Interestingly, we found several amino acids that are more generally preferred (like the Proline) or avoided (like the Cysteine) by the resistant species. Furthermore, Cancer resistance in mammals and reptiles is significantly predicted by the number of the predicted protecting variants (PVs) a species has. Moreover, PVs-enriched-genes are enriched in pathways relevant to tumor suppression. For example, they are enriched in the Hedgehog signaling and silencing pathways, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are mostly more abundant in healthy people compared to cancer patients within different human races.

Keywords: cancer resistance, protecting variant, naked mole rat, comparative genomics

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3680 MMP-2 Gene Polymorphism and Its Influence on Serum MMP-2 Levels in Pre-Eclampsia in Indian Population

Authors: Ankush Kalra, Mirza Masroor, Usha Manaktala, B. C. Koner, T. K. Mishra

Abstract:

Introduction: Pre-eclampsia affects 3-5% of pregnancies worldwide and increases maternal-fetal morbidity and mortality. Reduced placental perfusion induces the release of biomolecules by the placenta into maternal circulation causing endothelial dysfunction. Zinc dependent matrix metalloproteinase-2 (MMP-2) may be up-regulated and interact with circulating factors of oxidative stress and inflammation to produce endothelial dysfunction in pre-eclampsia. Aim: To study the functional genetic polymorphism of MMP-2 gene (g-1306 C>T) in pre-eclampsia and its effect on serum MMP-2 levels in these patients. Method: Hundred pre-eclampsia patients and hundred age and gestation period matched healthy pregnant women with their consent were recruited in the study. Serum MMP-2 levels in all subjects were estimated using standard ELISA kits. MMP-2 gene (g.- 1306 C>T) SNPs were genotyped using whole blood by ASO-PCR. Result: The pre-eclampsia patients had higher serum levels of MMP-2 compared to the healthy pregnant (p < 0.05). Also the MMP-2 genotype was associated with significant alteration in the serum MMP-2 concentration in these patients (p < 0.05). Conclusion: This study results suggest an association of MMP-2 genetic polymorphism and serum levels of MMP-2 to the path physiology of hypertensive disorder of pregnancy.

Keywords: allele specific oligonucleotide polymerase chain reaction (ASO-PCR), enzyme linked immunosorbent assay (ELISA), matrix metalloproteinase-2 (MMP-2), pre-eclampsia

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3679 Exploring the Genetic Architecture of Chicken Resistance to Avian Influenza Virus

Authors: Haile Berihulay, Chenglong Luo

Abstract:

Avian influenza, commonly known as bird flu, is a highly contagious viral disease primarily affecting poultry and wild birds, with significant implications for both animal health and public safety. The influenza virus (IV) is notorious for its ability to mutate and infect multiple species, including humans, leading to severe consequences. Avian influenza poses considerable pandemic risks due to the potential evolution of low pathogenic avian influenza (LPAI) into highly pathogenic avian influenza (HPAI), which can cause rapid outbreaks in domestic flocks. While AVI viruses typically do not replicate well in humans, strains such as H5N1 and H7N9 have crossed the species barrier, raising alarm over human infections. The recent documentation of human transmission of the H5N8 strain from birds underscores the ongoing threat posed by avian influenza. This review necessitates a thorough discussion about the genetic foundation of viral pathogens, identifying key candidate genes linked to disease resilience, and discussing powerful tools. This review can help researchers to comprehensively overview the disease severity and combat related to AIV, which causes significant economic impact and set effective control strategies to mitigate the risks associated with avian influenza outbreaks.

Keywords: Avian, candidate genes, chicken, molecular, pathogen, virus

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3678 Clinical Cases of Rare Types of 'Maturity Onset Diabetes of the Young' Diabetes

Authors: Alla Ovsyannikova, Oksana Rymar, Elena Shakhtshneider, Mikhail Voevoda

Abstract:

In Siberia endocrinologists increasingly noted young patients with the course of diabetes mellitus differing from 1 and 2 types. Therefore we did a molecular genetic study for this group of patients to verify the monogenic forms of diabetes mellitus in them and researched the characteristics of this pathology. When confirming the monogenic form of diabetes, we performed a correction therapy for many patients (transfer from insulin to tablets), prevented specific complications, examined relatives and diagnosed their diabetes at the preclinical stage, revealed phenotypic characteristics of the pathology which led to the high significance of this work. Materials and Methods: We observed 5 patients (4 families). We diagnosed MODY (Maturity Onset Diabetes of the Young) during the molecular genetic testing (direct automatic sequencing). All patients had a full clinical examination, blood samples for biochemical research, determination of C-peptide and TSH, antibodies to b-cells, microalbuminuria, abdominal ultrasound, heart and thyroid ultrasound, examination of ophthalmologist. Results: We diagnosed 3 rare types of MODY: two women had MODY8, one man – MODY6 and man and his mother - MODY12. Patients with types 8 and 12 had clinical features. Age of onset hyperglycemia ranged from 26 to 34 years. In a patient with MODY6 fasting hyperglycemia was detected during a routine examination. Clinical symptoms, complications were not diagnosed. The patient observes a diet. In the first patient MODY8 was detected during first pregnancy, she had itchy skin and mostly postprandial hyperglycemia. Upon examination we determined glycated hemoglobin 7.5%, retinopathy, non-proliferative stage, peripheral neuropathy. She uses a basic bolus insulin therapy. The second patient with MODY8 also had clinical manifestations of hyperglycemia (pruritus, thirst), postprandial hyperglycemia and diabetic nephropathy, a stage of microalbuminuria. The patient was diagnosed autoimmune thyroiditis. She used inhibitors of DPP-4. The patient with MODY12 had an aggressive course. In the detection of hyperglycemia he had complaints of visual impairment, intense headaches, leg cramps. The patient had a history of childhood convulsive seizures of non-epileptic genesis, without organic pathology, which themselves were stopped at the age of 12 years. When we diagnosed diabetes a patient was 28 years, he had hypertriglyceridemia, atherosclerotic plaque in the carotid artery, proliferative retinopathy (lacerocoagulation). Diabetes and early myocardial infarction were observed in three cases in family. We prescribe therapy with sulfonylureas and SGLT-2 inhibitors with a positive effect. At the patient's mother diabetes began at a later age (30 years) and a less aggressive course was observed. She also has hypertriglyceridemia and uses oral hypoglycemic drugs. Conclusions: 1) When young patients with hyperglycemia have extrapancreatic pathologies and diabetic complications with a short duration of diabetes we can assume they have one of type of MODY diabetes. 2) In patients with monogenic forms of diabetes mellitus, the clinical manifestations of hyperglycemia in each succeeding generation are revealed at an earlier age. Research had increased our knowledge of the monogenic forms of diabetes. The reported study was supported by RSCF, research project No. 14-15-00496-P.

Keywords: diabetes mellitus, MODY diabetes, monogenic forms, young patients

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3677 Numerical Simulation and Experimental Study on Cable Damage Detection Using an MFL Technique

Authors: Jooyoung Park, Junkyeong Kim, Aoqi Zhang, Seunghee Park

Abstract:

Non-destructive testing on cable is in great demand due to safety accidents at sites where many equipments using cables are installed. In this paper, the quantitative change of the obtained signal was analyzed using a magnetic flux leakage (MFL) method. A two-dimensional simulation was conducted with a FEM model replicating real elevator cables. The simulation data were compared for three parameters (depth of defect, width of defect and inspection velocity). Then, an experiment on same conditions was carried out to verify the results of the simulation. Signals obtained from both the simulation and the experiment were transformed to characterize the properties of the damage. Throughout the results, a cable damage detection based on an MFL method was confirmed to be feasible. In further study, it is expected that the MFL signals of an entire specimen will be gained and visualized as well.

Keywords: magnetic flux leakage (mfl), cable damage detection, non-destructive testing, numerical simulation

Procedia PDF Downloads 379
3676 Sustainable Harvesting, Conservation and Analysis of Genetic Diversity in Polygonatum Verticillatum Linn.

Authors: Anchal Rana

Abstract:

Indian Himalayas with their diverse climatic conditions are home to many rare and endangered medicinal flora. One such species is Polygonatum verticillatum Linn., popularly known as King Solomon’s Seal or Solomon’s Seal. Its mention as an incredible medicinal herb comes from 5000 years ago in Indian Materia Medica as a component of Ashtavarga, a poly-herbal formulation comprising of eight herbs illustrated as world’s first ever revitalizing and rejuvenating nutraceutical food, which is now commercialised in the name ‘Chaywanprash’. It is an erect tall (60 to 120 cm) perennial herb with sessile, linear leaves and white pendulous flowers. The species grows well in an altitude range of 1600 to 3600 m amsl, and propagates mostly through rhizomes. The rhizomes are potential source for significant phytochemicals like flavonoids, phenolics, lectins, terpenoids, allantoin, diosgenin, β-Sitosterol and quinine. The presence of such phytochemicals makes the species an asset for antioxidant, cardiotonic, demulcent, diuretic, energizer, emollient, aphrodisiac, appetizer, glactagogue, etc. properties. Having profound concentrations of macro and micronutrients, species has fine prospects of being used as a diet supplement. However, due to unscientific and gregarious uprooting, it has been assigned a status of ‘vulnerable’ and ‘endangered’ in the Conservation Assessment and Management Plan (CAMP) process conducted by Foundation for Revitalisation of Local Health Traditions (FRLHT) during 2010, according to IUCN Red-List Criteria. Further, destructive harvesting, land use disturbances, heavy livestock grazing, climatic changes and habitat fragmentation have substantially contributed towards anomaly of the species. It, therefore, became imperative to conserve the diversity of the species and make judicious use in future research and commercial programme and schemes. A Gene Bank was therefore established at High Altitude Herbal Garden of the Forest Research Institute, Dehradun, India situated at Chakarata (30042’52.99’’N, 77051’36.77’’E, 2205 m amsl) consisting 149 accessions collected from thirty-one geographical locations spread over three Himalayan States of Jammu and Kashmir, Himachal Pradesh, and Uttarakhand. The present investigations purport towards sampling and collection of divergent germplasm followed by planting and cultivation techniques. The ultimate aim is thereby focussed on analysing genetic diversity of the species and capturing promising genotypes for carrying out further genetic improvement programme so to contribute towards sustainable development and healthcare.

Keywords: Polygonatum verticillatum Linn., phytochemicals, genetic diversity, conservation, gene bank

Procedia PDF Downloads 163
3675 Genetic Diversity of Norovirus Strains in Outpatient Children from Rural Communities of Vhembe District, South Africa, 2014-2015

Authors: Jean Pierre Kabue, Emma Meader, Afsatou Ndama Traore, Paul R. Hunter, Natasha Potgieter

Abstract:

Norovirus is now considered the most common cause of outbreaks of nonbacterial gastroenteritis. Limited data are available for Norovirus strains in Africa, especially in rural and peri-urban areas. Despite the excessive burden of diarrhea disease in developing countries, Norovirus infections have been to date mostly reported in developed countries. There is a need to investigate intensively the role of viral agents associated with diarrhea in different settings in Africa continent. To determine the prevalence and genetic diversity of Norovirus strains circulating in the rural communities in the Limpopo Province, South Africa and investigate the genetic relationship between Norovirus strains, a cross-sectional study was performed on human stools collected from rural communities. Between July 2014 and April 2015, outpatient children under 5 years of age from rural communities of Vhembe District, South Africa, were recorded for the study. A total of 303 stool specimens were collected from those with diarrhea (n=253) and without (n=50) diarrhea. NoVs were identified using real-time one-step RT-PCR. Partial Sequence analyses were performed to genotype the strains. Phylogenetic analyses were performed to compare identified NoVs genotypes to the worldwide circulating strains. Norovirus detection rate was 41.1% (104/253) in children with diarrhea. There was no significant difference (OR=1.24; 95% CI 0.66-2.33) in Norovirus detection between symptomatic and asymptomatic children. Comparison of the median CT values for NoV in children with diarrhea and without diarrhea revealed significant statistical difference of estimated GII viral load from both groups, with a much higher viral burden in children with diarrhea. To our knowledge, this is the first study reporting on the differences in estimated viral load of GII and GI NoV positive cases and controls. GII.Pe (n=9) were the predominant genotypes followed by GII.Pe/GII.4 Sydney 2012 (n=8) suspected recombinant and GII.4 Sydney 2012 variants(n=7). Two unassigned GII.4 variants and an unusual RdRp genotype GII.P15 were found. With note, the rare GIIP15 identified in this study has a common ancestor with GIIP15 strain from Japan previously reported as GII/untypeable recombinant strain implicated in a gastroenteritis outbreak. To our knowledge, this is the first report of this unusual genotype in the African continent. Though not confirmed predictive of diarrhea disease in this study, the high detection rate of NoV is an indication of subsequent exposure of children from rural communities to enteric pathogens due to poor sanitation and hygiene practices. The results reveal that the difference between asymptomatic and symptomatic children with NoV may possibly be related to the NoV genogroups involved. The findings emphasize NoV genetic diversity and predominance of GII.Pe/GII.4 Sydney 2012, indicative of increased NoV activity. An uncommon GII.P15 and two unassigned GII.4 variants were also identified from rural settings of the Vhembe District/South Africa. NoV surveillance is required to help to inform investigations into NoV evolution, and to support vaccine development programmes in Africa.

Keywords: asymptomatic, common, outpatients, norovirus genetic diversity, sporadic gastroenteritis, South African rural communities, symptomatic

Procedia PDF Downloads 189
3674 Testing of the Decreasing Bond Strength of Polyvinyl Acetate Adhesive by Low Temperatures

Authors: Pavel Boška, Jan Bomba, Tomáš Beránek, Jiří Procházka

Abstract:

When using wood products bonded by polyvinyl acetate, glues such as windows are the most limiting element of degradation of the glued joint due to weather changes. In addition to moisture and high temperatures, the joint may damage the low temperature below freezing point, where dimensional changes in the material and distortion of the adhesive film occur. During the experiments, the joints were exposed to several degrees of sub-zero temperatures from 0 °C to -40 °C and then to compare how the decreasing temperature affects the strength of the joint. The experiment was performed on wood beech samples (Fagus sylvatica), bonded with PVAc with D3 resistance and the shear strength of bond was measured. The glued and treated samples were tested on a laboratory testing machine, recording the strength of the joint. The statistical results have given us information that the strength of the joint gradually decreases with decreasing temperature, but a noticeable and statistically significant change is achieved only at very low temperatures.

Keywords: adhesives, bond strength, low temperatures, polyvinyl acetate

Procedia PDF Downloads 347
3673 Scalable UI Test Automation for Large-scale Web Applications

Authors: Kuniaki Kudo, Raviraj Solanki, Kaushal Patel, Yash Virani

Abstract:

This research mainly concerns optimizing UI test automation for large-scale web applications. The test target application is the HHAexchange homecare management WEB application that seamlessly connects providers, state Medicaid programs, managed care organizations (MCOs), and caregivers through one platform with large-scale functionalities. This study focuses on user interface automation testing for the WEB application. The quality assurance team must execute many manual users interface test cases in the development process to confirm no regression bugs. The team automated 346 test cases; the UI automation test execution time was over 17 hours. The business requirement was reducing the execution time to release high-quality products quickly, and the quality assurance automation team modernized the test automation framework to optimize the execution time. The base of the WEB UI automation test environment is Selenium, and the test code is written in Python. Adopting a compilation language to write test code leads to an inefficient flow when introducing scalability into a traditional test automation environment. In order to efficiently introduce scalability into Test Automation, a scripting language was adopted. The scalability implementation is mainly implemented with AWS's serverless technology, an elastic container service. The definition of scalability here is the ability to automatically set up computers to test automation and increase or decrease the number of computers running those tests. This means the scalable mechanism can help test cases run parallelly. Then test execution time is dramatically decreased. Also, introducing scalable test automation is for more than just reducing test execution time. There is a possibility that some challenging bugs are detected by introducing scalable test automation, such as race conditions, Etc. since test cases can be executed at same timing. If API and Unit tests are implemented, the test strategies can be adopted more efficiently for this scalability testing. However, in WEB applications, as a practical matter, API and Unit testing cannot cover 100% functional testing since they do not reach front-end codes. This study applied a scalable UI automation testing strategy to the large-scale homecare management system. It confirmed the optimization of the test case execution time and the detection of a challenging bug. This study first describes the detailed architecture of the scalable test automation environment, then describes the actual performance reduction time and an example of challenging issue detection.

Keywords: aws, elastic container service, scalability, serverless, ui automation test

Procedia PDF Downloads 101
3672 Genetic Characteristics of Chicken Anemia Virus Circulating in Northern Vietnam

Authors: Hieu Van Dong, Giang Thi Huong Tran, Giap Van Nguyen, Tung Duy Dao, Vuong Nghia Bui, Le Thi My Huynh, Yohei Takeda, Haruko Ogawa, Kunitoshi Imai

Abstract:

Chicken anemia virus (CAV) has a ubiquitous and worldwide distribution in chicken production. Our group previously reported high seroprevalence of CAV in chickens in northern Vietnam. In the present study, 330 tissue samples collected from commercial and breeder chicken farms in eleven provinces in northern Vietnam were tested for the CAV infection. We found that 157 out of 330 (47.58%) chickens were positive with CAV genes by real-time PCR method. Nine CAV strains obtained from the different location and time were forwarded to the full-length sequence of CAV VP1 gene. Phylogenetic analysis of the Vietnamese CAV vp1 gene indicated that the CAVs circulating in northern Vietnam were divided into three distinct genotypes, II, III, and V, but not clustered with the vaccine strains. Among the three genotypes, genotype III was the major one widely spread in Vietnam, and that included three sub-genotypes, IIIa, IIIb, and IIIc. The Vietnamese CAV strains were closely related to the Chinese, Taiwanese, and USA strains. All the CAV isolates had glutamine at amino acid position 394 in the VP1 gene, suggesting that they might be highly pathogenic strains. One strain was defined to be genotype V, which had not been reported for Vietnamese CAVs. Additional studies are required to further evaluate the pathogenicity of CAV strains circulating in Vietnam.

Keywords: chicken anemia virus, genotype, genetic characteristics, Vietnam

Procedia PDF Downloads 163
3671 Predictive Analysis of the Stock Price Market Trends with Deep Learning

Authors: Suraj Mehrotra

Abstract:

The stock market is a volatile, bustling marketplace that is a cornerstone of economics. It defines whether companies are successful or in spiral. A thorough understanding of it is important - many companies have whole divisions dedicated to analysis of both their stock and of rivaling companies. Linking the world of finance and artificial intelligence (AI), especially the stock market, has been a relatively recent development. Predicting how stocks will do considering all external factors and previous data has always been a human task. With the help of AI, however, machine learning models can help us make more complete predictions in financial trends. Taking a look at the stock market specifically, predicting the open, closing, high, and low prices for the next day is very hard to do. Machine learning makes this task a lot easier. A model that builds upon itself that takes in external factors as weights can predict trends far into the future. When used effectively, new doors can be opened up in the business and finance world, and companies can make better and more complete decisions. This paper explores the various techniques used in the prediction of stock prices, from traditional statistical methods to deep learning and neural networks based approaches, among other methods. It provides a detailed analysis of the techniques and also explores the challenges in predictive analysis. For the accuracy of the testing set, taking a look at four different models - linear regression, neural network, decision tree, and naïve Bayes - on the different stocks, Apple, Google, Tesla, Amazon, United Healthcare, Exxon Mobil, J.P. Morgan & Chase, and Johnson & Johnson, the naïve Bayes model and linear regression models worked best. For the testing set, the naïve Bayes model had the highest accuracy along with the linear regression model, followed by the neural network model and then the decision tree model. The training set had similar results except for the fact that the decision tree model was perfect with complete accuracy in its predictions, which makes sense. This means that the decision tree model likely overfitted the training set when used for the testing set.

Keywords: machine learning, testing set, artificial intelligence, stock analysis

Procedia PDF Downloads 92
3670 Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson’s Disease Patients

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

Abstract:

Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

Procedia PDF Downloads 373
3669 Testing the Change in Correlation Structure across Markets: High-Dimensional Data

Authors: Malay Bhattacharyya, Saparya Suresh

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The Correlation Structure associated with a portfolio is subjected to vary across time. Studying the structural breaks in the time-dependent Correlation matrix associated with a collection had been a subject of interest for a better understanding of the market movements, portfolio selection, etc. The current paper proposes a methodology for testing the change in the time-dependent correlation structure of a portfolio in the high dimensional data using the techniques of generalized inverse, singular valued decomposition and multivariate distribution theory which has not been addressed so far. The asymptotic properties of the proposed test are derived. Also, the performance and the validity of the method is tested on a real data set. The proposed test performs well for detecting the change in the dependence of global markets in the context of high dimensional data.

Keywords: correlation structure, high dimensional data, multivariate distribution theory, singular valued decomposition

Procedia PDF Downloads 122
3668 Nonparametric Specification Testing for the Drift of the Short Rate Diffusion Process Using a Panel of Yields

Authors: John Knight, Fuchun Li, Yan Xu

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Based on a new method of the nonparametric estimator of the drift function, we propose a consistent test for the parametric specification of the drift function in the short rate diffusion process using observations from a panel of yields. The test statistic is shown to follow an asymptotic normal distribution under the null hypothesis that the parametric drift function is correctly specified, and converges to infinity under the alternative. Taking the daily 7-day European rates as a proxy of the short rate, we use our test to examine whether the drift of the short rate diffusion process is linear or nonlinear, which is an unresolved important issue in the short rate modeling literature. The testing results indicate that none of the drift functions in this literature adequately captures the dynamics of the drift, but nonlinear specification performs better than the linear specification.

Keywords: diffusion process, nonparametric estimation, derivative security price, drift function and volatility function

Procedia PDF Downloads 360