Search results for: real-coded genetic algorithm

Authors: Michael Aupetit, Mahmoud Al-ismail, Khaled Mohamed

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Cancer is a major public health problem all over the world. Breast cancer has the highest incidence rate over all cancers for women in Qatar making its study a top priority of the country. Human cancer is a dynamic disease that develops over an extended period through the accumulation of a series of genetic alterations. A Darwinian process drives the tumor cells toward higher malignancy growing the branches of a progression tree in the space of genes expression. Although it is not possible to track these genetic alterations dynamically for one patient, it is possible to reconstruct the progression tree from the aggregation of thousands of tumor cells’ genetic profiles from thousands of different patients at different stages of the disease. Analyzing the progression tree is a way to detect pivotal molecular events that drive the malignant evolution and to provide a guide for the development of cancer diagnostics, prognostics and targeted therapeutics. In this work we present the development of a Visual Analytic web platform CanVis enabling users to upload gene-expression data and analyze their progression tree. The server computes the progression tree based on state-of-the-art techniques and allows an interactive visual exploration of this tree and the gene-expression data along its branching structure helping to discover potential driver genes.

Keywords: breast cancer, progression tree, visual analytics, web platform

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Authors: Adilah Abdul Ghapor, Yong Zulina Zubairi, A. H. M. R. Imon

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Missing value problem is common in statistics and has been of interest for years. This article considers two modern techniques in handling missing data for linear functional relationship model (LFRM) namely the Expectation-Maximization (EM) algorithm and Expectation-Maximization with Bootstrapping (EMB) algorithm using three performance indicators; namely the mean absolute error (MAE), root mean square error (RMSE) and estimated biased (EB). In this study, we applied the methods of imputing missing values in two types of LFRM namely the full model of LFRM and in LFRM when the slope is estimated using a nonparametric method. Results of the simulation study suggest that EMB algorithm performs much better than EM algorithm in both models. We also illustrate the applicability of the approach in a real data set.

Keywords: expectation-maximization, expectation-maximization with bootstrapping, linear functional relationship model, performance indicators

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Authors: Jamileh Darsareh, Mohammad Nikafrooz

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Some teachers and e-content producers, based on their experiences, try to produce educational videos using screen recording software. There are many challenges that they may encounter while producing screen-recorded videos. These are in the domains of technical and pedagogical challenges like designing the roadmap, preparing the screen, setting the recording software and recording the screen, editing, etc. This study is a descriptive study and tries to present some procedures for producing acceptable and well-made videos. These procedures are presented in the form of an algorithm for producing screen-recorded video. This algorithm presents the main producing phases, including design, pre-production, production, post-production, and distribution. These phases consist of some steps which are supported by several technical and pedagogical considerations. Following these phases and steps according to the suggested order helps the producers to produce their intended and desired video by saving time and also facing fewer technical problems. It is expected that by using this algorithm, e-content producers and teachers gain better performance in producing educational videos.

Keywords: e-content producing algorithm, screen-recorded videos, screen recording software, technical and pedagogical considerations

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Authors: Rimmy Yadav, Avtar Singh

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—Ant Colony Optimization (ACO) is a promising modern approach to the unused combinatorial optimization. Here ACO is applied to finding the shortest during communication link failure. In this paper, the performances of the prim’s and ACO algorithm are made. By comparing the time complexity and program execution time as set of parameters, we demonstrate the pleasant performance of ACO in finding excellent solution to finding shortest path during communication link failure.

Keywords: ant colony optimization, link failure, prim’s algorithm, shortest path

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Authors: Jiahe Liu, Hongyang Yu, Feng Qian, Miao Luo

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SMPL-X was a powerful parametric human body model that included male, neutral, and female models, with significant gender differences between these three models. During the process of 3D human body reconstruction, the correct selection of standard templates was crucial for obtaining accurate results. To address this issue, we developed an efficient gender classification algorithm to automatically select the appropriate template for 3D human body reconstruction. The key to this gender classification algorithm was the precise analysis of human body features. By using the SMPL-X model, the algorithm could detect and identify gender features of the human body, thereby determining which standard template should be used. The accuracy of this algorithm made the 3D reconstruction process more accurate and reliable, as it could adjust model parameters based on individual gender differences. SMPL-X and the related gender classification algorithm have brought important advancements to the field of 3D human body reconstruction. By accurately selecting standard templates, they have improved the accuracy of reconstruction and have broad potential in various application fields. These technologies continue to drive the development of the 3D reconstruction field, providing us with more realistic and accurate human body models.

Keywords: gender classification, joint detection, SMPL-X, 3D reconstruction

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Authors: Hamed K. Esfahani, Bithin Datta

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Transport of reactive chemical contaminant species in groundwater aquifers is a complex and highly non-linear physical and geochemical process especially for real life scenarios. Simulating this transport process involves solving complex nonlinear equations and generally requires huge computational time for a given aquifer study area. Development of optimal remediation strategies in aquifers may require repeated solution of such complex numerical simulation models. To overcome this computational limitation and improve the computational feasibility of large number of repeated simulations, Genetic Programming based trained surrogate models are developed to approximately simulate such complex transport processes. Transport process of acid mine drainage, a hazardous pollutant is first simulated using a numerical simulated model: HYDROGEOCHEM 5.0 for a contaminated aquifer in a historic mine site. Simulation model solution results for an illustrative contaminated aquifer site is then approximated by training and testing a Genetic Programming (GP) based surrogate model. Performance evaluation of the ensemble GP models as surrogate models for the reactive species transport in groundwater demonstrates the feasibility of its use and the associated computational advantages. The results show the efficiency and feasibility of using ensemble GP surrogate models as approximate simulators of complex hydrogeologic and geochemical processes in a contaminated groundwater aquifer incorporating uncertainties in historic mine site.

Keywords: geochemical transport simulation, acid mine drainage, surrogate models, ensemble genetic programming, contaminated aquifers, mine sites

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Authors: Jiahe Liu, HongyangYu, Feng Qian, Miao Luo

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The aim of this study was to improve the effects of human body 3D reconstruction. The MvP algorithm was adopted to obtain key point information from multiple perspectives. This algorithm allowed the capture of human posture and joint positions from multiple angles, providing more comprehensive and accurate data. The study also incorporated the SMPL-X model, which has been widely used for human body modeling, to achieve more accurate 3D reconstruction results. The use of the MvP algorithm made it possible to observe the reconstructed object from multiple angles, thus reducing the problems of blind spots and missing information. This algorithm was able to effectively capture key point information, including the position and rotation angle of limbs, providing key data for subsequent 3D reconstruction. Compared with traditional single-view methods, the method of multi-view fusion significantly improved the accuracy and stability of reconstruction. By combining the MvP algorithm with the SMPL-X model, we successfully achieved better human body 3D reconstruction effects. The SMPL-X model is highly scalable and can generate highly realistic 3D human body models, thus providing more detail and shape information.

Keywords: 3D human reconstruction, multi-view, joint point, SMPL-X

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Authors: Benjamin A. Ha, Marco Morselli, Xinhui Paige Zhang, Elizabeth A. C. Heath-Heckman, Jonathan B. Puritz, David K. Jacobs

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Next-generation sequencing has enhanced the ability to acquire massive amounts of sequence data to address classic population genetic questions for non-model organisms. Targeted approaches allow for cost effective or more precise analyses of relevant sequences; although, many such techniques require a known genome and it can be costly to purchase probes from a company. This is challenging for non-model organisms with no published genome and can be expensive for large population genetic studies. Expressed exome capture sequencing (EecSeq) synthesizes probes in the lab from expressed mRNA, which is used to capture and sequence the coding regions of genomic DNA from a pooled suite of samples. A normalization step produces probes to recover transcripts from a wide range of expression levels. This approach offers low cost recovery of a broad range of genes in the genome. This research project expands on EecSeq to investigate if mRNA from one taxon may be used to capture relevant sequences from a series of increasingly less closely related taxa. For this purpose, we propose to use the endangered Northern Tidewater goby, Eucyclogobius newberryi, a non-model organism that inhabits California coastal lagoons. mRNA will be extracted from E. newberryi to create probes and capture exomes from eight other taxa, including the more at-risk Southern Tidewater goby, E. kristinae, and more divergent species. Captured exomes will be sequenced, analyzed bioinformatically and phylogenetically, then compared to previously generated phylogenies across this group of gobies. This will provide an assessment of the utility of the technique in cross-species studies and for analyzing low genetic variation within species as is the case for E. kristinae. This method has potential applications to provide economical ways to expand population genetic and evolutionary biology studies for non-model organisms.

Keywords: coastal lagoons, endangered species, non-model organism, target capture method

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Authors: Atefeh Esmailnejad, Gholam Reza Nikbakht Brujeni

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The major histocompatibility complex (MHC) is the best-characterized genetic region associated with susceptibility and/or resistance to a wide range of infectious diseases, autoimmune diseases and immune responses to vaccines. It has been demonstrated that there is an association between the MHC and resistance to Marek disease, Newcastle disease, Rous sarcoma tumor, Avian leucosis, Fowl cholera, Salmonellosis and Pasteurellosis in chicken. The present study evaluated the MHC polymorphism and its association with antibody response to Newcastle (ND) vaccine in Iranian native chickens. The MHC polymorphism was investigated using LEI0258 microsatellite locus by PCR-based fragment analysis. LEI0258 microsatellite marker is a genetic indicator for MHC, which is located on microchromosome 16 and strongly associated with serologically defined MHC haplotypes. Antibody titer against ND vaccine was measured by Haemaglutination Inhibition (HI) assay. Statistical analysis was performed using SPSS software (version 21). Total of 13 LEI0258 microsatellite alleles were identified in 72 samples which indicated a high genetic diversity in the population. The association study revealed a significant influence of MHC alleles on immune responses to Newcastle vaccine. 311 and 313 bp alleles were significantly associated with elevated immune responses to Newcastle vaccine (p<0.05). These results would be applicable in designing and improving the populations under selective breeding.

Keywords: chicken, LEI0258, MHC, Newcastle vaccine

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Authors: Hassan Qandil

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Using a statistical algorithm incorporated in MATLAB, four types of non-imaging Fresnel lenses are designed; spot-flat, linear-flat, dome-shaped and semi-cylindrical-shaped. The optimization employs a statistical ray-tracing methodology of the incident light, mainly considering effects of chromatic aberration, varying focal lengths, solar inclination and azimuth angles, lens and receiver apertures, and the optimum number of prism grooves. While adopting an equal-groove-width assumption of the Poly-methyl-methacrylate (PMMA) prisms, the main target is to maximize the ray intensity on the receiver’s aperture and therefore achieving higher values of heat flux. The algorithm outputs prism angles and 2D sketches. 3D drawings are then generated via AutoCAD and linked to COMSOL Multiphysics software to simulate the lenses under solar ray conditions, which provides optical and thermal analysis at both the lens’ and the receiver’s apertures while setting conditions as per the Dallas-TX weather data. Once the lenses’ characterization is finalized, receivers are designed based on its optimized aperture size. Several cavity shapes; including triangular, arc-shaped and trapezoidal, are tested while coupled with a variety of receiver materials, working fluids, heat transfer mechanisms, and enclosure designs. A vacuum-reflective enclosure is also simulated for an enhanced thermal absorption efficiency. Each receiver type is simulated via COMSOL while coupled with the optimized lens. A lab-scale prototype for the optimum lens-receiver configuration is then fabricated for experimental evaluation. Application-based testing is also performed for the selected configuration, including that of a photovoltaic-thermal cogeneration system and solar furnace system. Finally, some future research work is pointed out, including the coupling of the collector-receiver system with an end-user power generator, and the use of a multi-layered genetic algorithm for comparative studies.

Keywords: COMSOL, concentrator, energy, fresnel, optics, renewable, solar

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Authors: Zhang Xiaodong, Tang Zixin, Liu Xin

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In order to avoid self-collision of space manipulators during operation process, a real-time detection method is proposed in this paper. The manipulator is fitted into a cylinder enveloping surface, and then the detection algorithm of collision between cylinders is analyzed. The collision model of space manipulator self-links can be detected by using this algorithm in real-time detection during the operation process. To ensure security of the operation, a safety threshold is designed. The simulation and experiment results verify the effectiveness of the proposed algorithm for a 7-DOF space manipulator.

Keywords: space manipulator, collision detection, self-collision, the real-time collision detection

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Authors: Agostinho Antunes

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The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.

Keywords: marine genomics, evolutionary bioinformatics, human genome sequencing, genomic analyses

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Authors: Rosa L. Figueroa, Christopher A. Flores, Qing Zeng-Treitler

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A regular expression consists of sequence characters which allow describing a text path. Usually, in clinical research, regular expressions are manually created by programmers together with domain experts. Lately, there have been several efforts to investigate how to generate them automatically. This article presents a text classification algorithm based on regexes. The algorithm named REX was designed, and then, implemented as a simplified method to create regexes to classify Spanish text automatically. In order to classify ambiguous cases, such as, when multiple labels are assigned to a testing example, REX includes an information gain method Two sets of data were used to evaluate the algorithm’s effectiveness in clinical text classification tasks. The results indicate that the regular expression based classifier proposed in this work performs statically better regarding accuracy and F-measure than Support Vector Machine and Naïve Bayes for both datasets.

Keywords: information gain, regular expressions, smith-waterman algorithm, text classification

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Authors: Ernesto Linan, Linda Cruz, Lucero Becerra

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In this paper, a new hybridized algorithm based on Chemical Reaction Optimization and Simulated Annealing is proposed to solve the alignment sequence Problem. The Chemical Reaction Optimization is a population-based meta-heuristic algorithm based on the principles of a chemical reaction. Simulated Annealing is applied to solve a large number of combinatorial optimization problems of general-purpose. In this paper, we propose hybridization between Chemical Reaction Optimization algorithm and Simulated Annealing in order to solve the Sequence Alignment Problem. An initial population of molecules is defined at beginning of the proposed algorithm, where each molecule represents a sequence alignment problem. In order to simulate inter-molecule collisions, the process of Chemical Reaction is placed inside the Metropolis Cycle at certain values of temperature. Inside this cycle, change of molecules is done due to collisions; some molecules are accepted by applying Boltzmann probability. The results with the hybrid scheme are better than the results obtained separately.

Keywords: chemical reaction optimization, sequence alignment problem, simulated annealing algorithm, metaheuristics

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Authors: Yan-Ren Chen, Jenn-Kaie Lain

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This paper proposes a novel indoor positioning algorithm based on visible light communications, implemented by light-emitting diode fixtures. In the proposed positioning algorithm, distances between light-emitting diode fixtures and mobile terminal are derived from the assumption of ideal Lambertian optic radiation model, and Trilateration positioning method is proceeded immediately to get the coordinates of mobile terminal. The proposed positioning algorithm directly obtains distance information from the optical signal modeling, and therefore, statistical distribution of received signal strength at different positions in interior space has no need to be pre-established. Numerically, simulation results have shown that the proposed indoor positioning algorithm can provide accurate location coordinates estimation.

Keywords: indoor positioning, received signal strength, trilateration, visible light communications

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Authors: Abdel-Maksoud Abdel-Kader Soliman

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The General Regularized Long Wave (GRLW) equation is solved numerically by giving a new algorithm based on collocation method using quartic B-splines at the mid-knot points as element shape. Also, we use the Fourth Runge-Kutta method for solving the system of first order ordinary differential equations instead of finite difference method. Our test problems, including the migration and interaction of solitary waves, are used to validate the algorithm which is found to be accurate and efficient. The three invariants of the motion are evaluated to determine the conservation properties of the algorithm.

Keywords: generalized RLW equation, solitons, quartic b-spline, nonlinear partial differential equations, difference equations

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Authors: Seyyedeh Faezeh Hassani Ziabari, Sadegh Eskandari, Maziar Salahi

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Infinite Feature Selection (IFS) algorithm is an efficient feature selection algorithm that selects a subset of features of all sizes (including infinity). In this paper, we present an improved version of it, called clustering IFS (CIFS), by clustering the dataset in advance. To do so, first, we apply the K-means algorithm to cluster the dataset, then we apply IFS. In the CIFS method, the spatial and temporal complexities are reduced compared to the IFS method. Experimental results on 6 datasets show the superiority of CIFS compared to IFS in terms of accuracy, running time, and memory consumption.

Keywords: feature selection, infinite feature selection, clustering, graph

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Authors: Yessengali Ussenbekov, Valery Terletskiy, Orik Zhanserkenova, Shynar Kasymbekova, Indira Beyshova, Aitkali Imanbayev, Almas Serikov

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Currently, there are 46 hereditary diseases afflicting cattle with known molecular genetic diagnostic methods developed for them. Genetic anomalies frequently occur in the Holstein cattle breeds from American and Canadian bloodlines. The data on the incidence of BLAD, CVM, DUMPS and BC autosomal recessive lethal mutations in pedigree animals are discordant, the detrimental allele incidence rates are high for the Holstein cattle breed, whereas the incidence rates of these mutations are low in some breeds or they are completely absent. Data were obtained on the basis of frozen semen of stud bulls. DNA was extracted from the semen with the DNA-Sorb-B extraction kit. The lethal mutation in the genes CD18, SLC35A3, UMP and ASS of Alatau stud bulls (N=124) was detected by polymerase chain reaction and RFLP analysis. It was established that stud bulls of the local Alatau breed were not carriers of the BLAD, CVM, DUMPS, and BC detrimental mutations. However, with a view to preventing the dissemination of hereditary diseases it is recommended to monitor the pedigree stock using molecular genetic methods.

Keywords: PCR, autosomal recessive point mutation, BLAD, CVM, DUMPS, BC, stud bulls

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Authors: Alireza Gholami, Amir H. D. Markazi

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In this paper, an observer-based direct adaptive fuzzy sliding mode (OAFSM) algorithm is proposed. In the proposed algorithm, the zero-input dynamics of the plant could be unknown. The input connection matrix is used to combine the sliding surfaces of individual subsystems, and an adaptive fuzzy algorithm is used to estimate an equivalent sliding mode control input directly. The fuzzy membership functions, which were determined by time consuming try and error processes in previous works, are adjusted by adaptive algorithms. The other advantage of the proposed controller is that the input gain matrix is not limited to be diagonal, i.e. the plant could be over/under actuated provided that controllability and observability are preserved. An observer is constructed to directly estimate the state tracking error, and the nonlinear part of the observer is constructed by an adaptive fuzzy algorithm. The main advantage of the proposed observer is that, the measured outputs is not limited to the first entry of a canonical-form state vector. The closed-loop stability of the proposed method is proved using a Lyapunov-based approach. The proposed method is applied numerically on a multi-link robot manipulator, which verifies the performance of the closed-loop control. Moreover, the performance of the proposed algorithm is compared with some conventional control algorithms.

Keywords: adaptive algorithm, fuzzy systems, membership functions, observer

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Authors: Mary Rose Eunice S. Gundayao, Manolo M. Fernandez

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Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder with an autosomal recessive inheritance pattern. Lysosomal storage disorders are often severe, follow a progressively neurodegenerative path, and may result in multi-organ failure, potentially leading to death within 5 to 6 years in cases of early-onset forms. There are limited data regarding cases of MLD in Filipino children. This is the case of a 2-year-old Filipino girl who presented with progressive neurological deterioration and was diagnosed with metachromatic leukodystrophy by molecular genetic testing. This case report aims to present this patient’s clinical history, neurological findings, diagnosis and novel genetic mutations causing MLD. A concise review of updated literature on MLD will be discussed.

Keywords: metachromatic leukodystrophy, ARSA gene, peripheral neuropathy, case report, demyelinating disease

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Authors: Md Habibul Ansary, Chandan Garai, Ranjan Dasgupta

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Utilization of resources is always a great challenge for any allocation problem, particularly when resource availability is dynamic in nature. In this work VM allocation mechanism has been augmented by providing resources in a combined manner. This approach has some inherent advantages in terms of reduction of wait state for the pending jobs of some users and better utilization of unused resources from the service providers’ point of view. Moreover the algorithm takes care of released resources from the finished jobs as soon as those become available. The proposed algorithm has been explained by suitable example to make the work complete.

Keywords: Bid ratio, cloud service, virtualization, VM allocation problem

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Authors: Surekha Tony, Roshan Mevada

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Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema, and microthrombocytopenia. In its classical form, significant combined immune deficiency, autoimmune complications, and risk of hematological malignancy necessitate early correction, preferably before 2 years of age, with hematopoietic stem cell transplant (HSCT) or gene therapy. Clinical features and severity are varied, making the diagnosis difficult in milder cases. We report an Omani boy diagnosed in early infancy with WAS based on clinical presentation and confirmed by genetic diagnosis with cure by HSCT from an HLA-identical sibling donor.

Keywords: genetic diagnosis, hematopoietic stem cell transplant, infant, Wiskott-Aldrich syndrome

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Authors: D. Mohammadzadeh S., J. Bolouri Bazaz

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This paper presents a new prediction model for compression index of fine-grained soils using multi-gene genetic programming (MGGP) technique. The proposed model relates the soil compression index to its liquid limit, plastic limit and void ratio. Several laboratory test results for fine-grained were used to develop the models. Various criteria were considered to check the validity of the model. The parametric and sensitivity analyses were performed and discussed. The MGGP method was found to be very effective for predicting the soil compression index. A comparative study was further performed to prove the superiority of the MGGP model to the existing soft computing and traditional empirical equations.

Keywords: new prediction model, compression index soil, multi-gene genetic programming, MGGP

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Authors: Majid Pourahmadi

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The performance of time-reversal MUSIC algorithm will be dramatically degrades in presence of strong noise and multiple scattering (i.e. when scatterers are close to each other). This is due to error in determining the number of scatterers. The present paper provides a new approach to alleviate such a problem using an information theoretic criterion referred as minimum description length (MDL). The merits of the novel approach are confirmed by the numerical examples. The results indicate the time-reversal MUSIC yields accurate estimate of the target locations with considerable noise and multiple scattering in the received signals.

Keywords: microwave imaging, time reversal, MUSIC algorithm, minimum description length (MDL)

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Authors: Gennady P. Ginkul, Sergey Yu. Soloviov

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The article proposes to use so-called "quotation-based algorithm" for simulation of decision making process in distributed expert systems and multi-agent systems. The idea was adopted from the techniques for group decision-making. It is based on the assumption that one expert system to perform its logical inference may use rules from another expert system. The application of the algorithm was demonstrated on the example in which the consolidated decision is the decision that requires minimal quotation.

Keywords: backward chaining inference, distributed expert systems, group decision making, multi-agent systems

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Authors: Garima Anand, Rupam Kapoor

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Alternaria leaf spot caused by Alternaria carthami is one of the most devastating diseases of safflower. It has resulted in huge losses in crop production and cultivation leading to a fall out of India’s rank as the leading producer of safflower in the world. Understanding the diversity of any pathogen is essential for its management and for the development of disease control strategies. The diversity of A. carthami was therefore analysed on the basis of biochemical, pathogenicity and genetic lines using ISSR markers. Collections and isolations of 95 isolates of A. carthami were made from major safflower producing states of India. Virulence was analysed to evaluate the pathogenic potential of these isolates. The isolates from Bijapur, Dharwad districts (Karnataka), and Parbhani and Solapur districts (Maharashtra) were found to be highly virulent. The virulence assays showed low virulence levels (42%) for the largest part of the population. Biochemical characterization to assess aggressiveness of these isolates was done by estimating the activity of cell wall degrading enzymes where isolates from districts Dharwad, Bijapur of Karnataka and districts Parbhani and Latur of Maharashtra were found to be most aggressive. Genetic diversity among isolates of A. carthami was determined using eighteen ISSR markers. Distance analysis using neighbour joining method and PCoA analysis of the ISSR profiles divided the isolates into three sub-populations. The most virulent isolates clustered in one group in the dendrogram. The study provided no evidence for geographical clustering indicating that isolates are randomly spread across the states, signifying the high potential of the fungus to adapt to diverse regions. The study can, therefore, aid in the breeding and deployment of A. carthami resistant safflower varieties and in the management of Alternaria leaf spot disease.

Keywords: alternaria leaf spot, genetic diversity, pathogenic potential, virulence

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Authors: Aizati N. A. Daud, Jorieke E. H. Bergman, Wilhelmina S. Kerstjens-Frederikse, Pieter Van Der Vlies, Eelko Hak, Rolf M. F. Berger, Henk Groen, Bob Wilffert

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Prenatal use of SRIs was previously associated with Congenital Heart Anomalies (CHA). The aim of the study is to explore whether pharmacogenetics plays a role in this teratogenicity using a gene-environment interaction study. A total of 33 case-mother dyads and 2 mother-only (children deceased) registered in EUROCAT Northern Netherlands were included in a case-only study. Five case-mother dyads and two mothers-only were exposed to SRIs (paroxetine=3, fluoxetine=2, venlafaxine=1, paroxetine and venlafaxine=1) in the first trimester of pregnancy. The remaining 28 case-mother dyads were not exposed to SRIs. Ten genes that encode the enzymes or proteins important in determining fetal exposure to SRIs or its mechanism of action were selected: CYPs (CYP1A2, CYP2C9, CYP2C19, CYP2D6), ABCB1 (placental P-glycoprotein), SLC6A4 (serotonin transporter) and serotonin receptor genes (HTR1A, HTR1B, HTR2A, and HTR3B). All included subjects were genotyped for 58 genetic variations in these ten genes. Logistic regression analyses were performed to determine the interaction odds ratio (OR) between genetic variations and SRIs exposure on the risk of CHA. Due to low phenotype frequencies of CYP450 poor metabolizers among exposed cases, the OR cannot be calculated. For ABCB1, there was no indication of changes in the risk of CHA with any of the ABCB1 SNPs in the children and their mothers. Several genetic variations of the serotonin transporter and receptors (SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 & rs6298, HTR3B rs1176744) were associated with an increased risk of CHA, but with too limited sample size to reach statistical significance. For SLC6A4 genetic variations, the mean genetic scores of the exposed case-mothers tended to be higher than the unexposed mothers (2.5 ± 0.8 and 1.88 ± 0.7, respectively; p=0.061). For SNPs of the serotonin receptors, the mean genetic score for exposed cases (children) tended to be higher than the unexposed cases (3.4 ± 2.2, and 1.9 ± 1.6, respectively; p=0.065). This study might be among the first to explore the potential gene-environment interaction between pharmacogenetic determinants and SRIs use on the risk of CHA. With small sample sizes, it was not possible to find a significant interaction. However, there were indications for a role of serotonin receptor polymorphisms in fetuses exposed to SRIs on fetal risk of CHA which warrants further investigation.

Keywords: gene-environment interaction, heart defects, pharmacogenetics, serotonin reuptake inhibitors, teratogenicity

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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: Mariam Bibi, Rubab Mehboob, Mehreen Sirshar

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Satisfying the customer requirements is the ultimate goal of producing or developing any product. The quality of the product is decided on the bases of the level of customer satisfaction. There are different techniques which have been reported during the survey which enhance the quality of the product through software defect prediction and by locating the missing software requirements. Some mining techniques were proposed to assess the individual performance indicators in collaborative environment to reduce errors at individual level. The basic intention is to produce a product with zero or few defects thereby producing a best product quality wise. In the analysis of survey the techniques like Genetic algorithm, artificial neural network, classification and clustering techniques and decision tree are studied. After analysis it has been discovered that these techniques contributed much to the improvement and enhancement of the quality of the product.

Keywords: data mining, defect prediction, missing requirements, software quality

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Authors: Ganesh Nandakumaran, Mehmet Karaata

Abstract:

A wave is a distributed execution, often made up of a broadcast phase followed by a feedback phase, requiring the participation of all the system processes before a particular event called decision is taken. Wave algorithms with one initiator such as the 1-wave algorithm have been shown to be very efficient for broadcasting messages in tree networks. Extensions of this algorithm broadcasting a sequence of waves using a single initiator have been implemented in algorithms such as the m-wave algorithm. However as the network size increases, having a single initiator adversely affects the message delivery times to nodes further away from the initiator. As a remedy, broadcast waves can be allowed to be initiated by multiple initiator nodes distributed across the network to reduce the completion time of broadcasts. These waves initiated by one or more initiator processes form a collection of waves covering the entire network. Solutions to global-snapshots, distributed broadcast and various synchronization problems can be solved efficiently using waves with multiple concurrent initiators. In this paper, we propose the first stabilizing multi-wave sequence algorithm implementing waves started by multiple initiator processes such that every process in the network receives at least one sequence of broadcasts. Due to being stabilizing, the proposed algorithm can withstand transient faults and do not require initialization. We view a fault as a transient fault if it perturbs the configuration of the system but not its program.

Keywords: distributed computing, multi-node broadcast, propagation of information with feedback and cleaning (PFC), stabilization, wave algorithms

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