Search results for: adaptive genetic regions

Authors: Imil Hamda Imran, Sami El Ferik

Abstract:

This paper deals with adaptive cooperative control of non holonomic mobile robot moved together in a given formation. The controller is designed based on the Immersion and Invariance (I&I) approach. I&I is a framework for adaptive stabilization of nonlinear systems with uncertain parameters. We investigate the tracking control of non holonomic mobile robot with uncertainties in The I&I-based adaptive controller regulates the angular and linear velocity of non holonomic mobile robot. The results demonstrate that the ability of I&I-based adaptive cooperative control in tracking the position of non holonomic mobile robot.

Keywords: nonholonomic mobile robot, immersion and invariance, adaptive control, uncertain nonlinear systems

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Authors: Mohammad Reza Rahimi Khoygani, Reza Ghasemi

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In this paper, designing direct adaptive neural controller is applied for a class of a nonlinear pendulum dynamic system. The radial basis function (RBF) is used for the Neural network (NN). The adaptive neural controller is robust in presence of external and internal uncertainties. Both the effectiveness of the controller and robustness against disturbances are the merits of this paper. The promising performance of the proposed controllers investigates in simulation results.

Keywords: adaptive control, pendulum dynamical system, nonlinear control, adaptive neural controller, nonlinear dynamical, neural network, RBF, driven pendulum, position control

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Authors: B. T. Chew, S. N. Kazi, A. Amiri

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This paper presents an adaptive thermal comfort model study in the tropical country of Malaysia. A number of researchers have been interested in applying the adaptive thermal comfort model to different climates throughout the world, but so far no study has been performed in Malaysia. For the use as a thermal comfort model, which better applies to hot and humid climates, the adaptive thermal comfort model was developed as part of this research by using the collected results from a large field study in six lecture halls with 178 students. The relationship between the operative temperature and behavioral adaptations was determined. In the developed adaptive model, the acceptable indoor neutral temperatures lay within the range of 23.9-26.0 oC, with outdoor temperatures ranging between 27.0–34.6oC. The most comfortable temperature for students in the lecture hall was 25.7 oC.

Keywords: hot and humid, lecture halls, neutral temperature, adaptive thermal comfort model

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Authors: R. Ghasemi, M. R. Rahimi Khoygani

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This paper proposes the designing direct adaptive neural controller to apply for a class of a nonlinear pendulum dynamic system. The radial basis function (RBF) neural adaptive controller is robust in presence of external and internal uncertainties. Both the effectiveness of the controller and robustness against disturbances are importance of this paper. The simulation results show the promising performance of the proposed controller.

Keywords: adaptive neural controller, nonlinear dynamical, neural network, RBF, driven pendulum, position control

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Authors: Senthuran Manoharan, Rathesan Sivagananalingam

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One of the main issues in system security is Authentication. Authentication can be defined as the process of recognizing the user's identity and it is the most important step in the access control process to safeguard data/resources from being accessed by unauthorized users. The static method of authentication cannot ensure the genuineness of the user. Due to this reason, more innovative authentication mechanisms came into play. At first two factor authentication was introduced and later, multi-factor authentication was introduced to enhance the security of the system. It also had some issues and later, adaptive authentication was introduced. In this research paper, the design of an adaptive authentication engine was put forward. The user risk profile was calculated based on the user parameters and then the user was challenged with a suitable authentication method.

Keywords: authentication, adaptive authentication, machine learning, security

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Authors: Mohammad Shams Esfand Abadi, Mehrdad Zalaghi, Reza ebrahimpour

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In this paper, we propose a sign adaptive filter algorithm with the ability of dynamic selection of subband filters which leads to low computational complexity compared with conventional sign subband adaptive filter (SSAF) algorithm. Dynamic selection criterion is based on largest reduction of the mean square deviation at each adaption. We demonstrate that this simple proposed algorithm has the same performance of the conventional SSAF and somewhat faster than it. In the presence of impulsive interferences robustness of the simple proposed algorithm as well as the conventional SSAF and outperform the conventional normalized subband adaptive filter (NSAF) algorithm. Therefore, it is preferred for environments under impulsive interferences. Simulation results are presented to verify these above considerations very well have been achieved.

Keywords: acoustic echo cancellation (AEC), normalized subband adaptive filter (NSAF), dynamic selection subband adaptive filter (DS-NSAF), sign subband adaptive filter (SSAF), impulsive noise, robust filtering

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Authors: Sabitha Rani A., Nagamani V.

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Embelia ribes Burm.f (Family-Myrsinaceae) commonly known as Vidanga or Baibirang, is one of the important medicinal plants of India. The seed extract is reported to be antidiabetic, antitumour, analgesic, anti-inflammatory, antispermatogenic, free radical scavenging activities and widely used in more than 75 Ayurvedic commercial formulations. Among the 100 different species of Embelia, E. ribes is considered as a major source of Embelin, a bioactive compound. Because of high demand and low availability, the seeds of E. ribes are substituted with many cheaper alternatives. Therefore, the present study of RAPD-PCR analysis was undertaken to develop molecular markers for identification of E. ribes. A total of 13 different seed samples of Embelia were collected from different agro-climatic regions of India. The seeds of E.ribes were collected from Kalpetta, Kerala and three different seed samples were collected from traders of Odisha, Madhya Pradesh, Maharastra. The other nine seed samples were collected from local traders which they have collected from different regions of India. Genomic DNA was isolated from different seed samples E. ribes and RAPD-PCR was performed on 13 different seed samples using 47 random primers. Out of all the primers, only 22 primers produced clear and highly-reproducible banding patterns. The 22 selected RAPD primers generated a total of 280 alleles with an average of 12 alleles per primer pair. In the present study, we have identified three RAPD-PCR markers i.e. OPF5_480 bp, OPH11_520 bp and OPH4_530 bp which can be used for genetic fingerprinting of E. ribes. This methodology can be employed for identification of original E. ribes and also distinguishing it from other substitutes and adulterants.

Keywords: Embelia ribes, RAPD-PCR, primers, genetic analysis

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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 varied 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: adaptation, animals, evolution, genomics

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Authors: Mallikarjuna Rao Gundavarapu, Ch. Mallikarjuna Rao, K. Anuradha Bai

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Real Time Video Tracking is a challenging task for computing professionals. The performance of video tracking techniques is greatly affected by background detection and elimination process. Local regions of the image frame contain vital information of background and foreground. However, pixel-level processing of local regions consumes a good amount of computational time and memory space by traditional approaches. In our approach we have explored the concurrent computational ability of General Purpose Graphic Processing Units (GPGPU) to address this problem. The Gaussian Mixture Model (GMM) with adaptive weighted kernels is used for detecting the background. The weights of the kernel are influenced by local regions and are updated by inter-frame variations of these corresponding regions. The proposed system has been tested with GPU devices such as GeForce GTX 280, GeForce GTX 280 and Quadro K2000. The results are encouraging with maximum speed up 10X compared to sequential approach.

Keywords: connected components, embrace threads, local weighted kernel, structuring elements

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Authors: Hamid Sharif, Nazish Saleem Abbas, Muhammad Haris Jamil

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An adaptive filter is a filter that self-adjusts its transfer function according to an optimization algorithm driven by an error signal. Because of the complexity of the optimization algorithms, most adaptive filters are digital filters. Adaptive filtering constitutes one of the core technologies in digital signal processing and finds numerous application areas in science as well as in industry. Adaptive filtering techniques are used in a wide range of applications, including adaptive noise cancellation and echo cancellation. Acoustic echo cancellation is a common occurrence in today’s telecommunication systems. The signal interference caused by acoustic echo is distracting to both users and causes a reduction in the quality of the communication. In this paper, we review different techniques of adaptive filtering to reduce this unwanted echo. In this paper, we see the behavior of techniques and algorithms of adaptive filtering like Least Mean Square (LMS), Normalized Least Mean Square (NLMS), Variable Step-Size Least Mean Square (VSLMS), Variable Step-Size Normalized Least Mean Square (VSNLMS), New Varying Step Size LMS Algorithm (NVSSLMS) and Recursive Least Square (RLS) algorithms to reduce this unwanted echo, to increase communication quality.

Keywords: adaptive acoustic, echo cancellation, LMS algorithm, adaptive filter, normalized least mean square (NLMS), variable step-size least mean square (VSLMS)

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Authors: Acheampong Addo, Emmanuel Odartei Armah, Seth Koranteng Agyakwah, Ruby Asmah, Emmanuel Tetteh-Doku Mensah, Rhoda Lims Diyie, Sena Amewu, Catherine Ragasa, Edward Kofi Abban, Mike Yaw Osei-Atweneboana

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The study investigated genetic variation and relationships among populations of Nile tilapia cultured in small-scale fish farms in selected regions of Ghana. A total of 700 samples were collected. All samples were screened with five microsatellite markers and results were analyzed using (Genetic Analysis in Excel), (Molecular and Evolutionary Genetic Analysis software, and Genpop on the web for Heterozygosity and Shannon diversity, (Analysis of Molecular Variance), and (Principal Coordinate Analysis). Fish from the 16 populations (made up of 14 farms and 2 selectively bred populations) clustered into three groups: 7 populations clustered with the GIFT-derived strain, 4 populations clustered with the Akosombo strain, and three populations were in a separate cluster. The clustering pattern indicated groups of different strains of Nile tilapia cultured. Mantel correlation test also showed low genetic variations among the 16 populations hence the need to boost seed quality in order to accelerate aquaculture production in Ghana.

Keywords: microsatellites, small- scale, Nile tilapia, akosombo strain, GIFT strain

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Authors: Khaled Al-Najjar, Ahmad Q. Al-Momani, Ahmed Elnahas, Reda Elsaid

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The research was carried out using records of Awassi sheep bred in drylands at Al-Fjaj Station, Jordan. That aimed to study non-genetic factors affecting milk yield (MK), litter size at birth (LZB); estimate heritability, repeatability, and genetic and phenotypic correlation using SAS and MTDFREML programs. The results were as follows, the average MK and LZB were 92.84 (kg) and 1.16, respectively. MK was highly significantly affected by each parity, age of ewe, year of lambing, and lactation period, while only the year of lambing had a significant effect on LZB. The heritability and repeatability were 0.07 and 0.10 for MK, while it was 0.05 and 0.25 for LZB. The genetic and phenotypic correlations were 0.17 and 0.02 between MK and LZB, respectively. The research concluded that the herd is genetically homozygous and therefore needs to increase genetic variance by introducing LZB-improved rams and selecting females from dams who achieved at least four parties to increase returns in drylands.

Keywords: Awassi sheep, genetic parameters, litter size, milk yield

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Authors: Abderrahim Siam, Ramdane Maamri, Zaidi Sahnoun

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The development of adaptive user interfaces (UI) presents for a long time an important research area in which researcher attempt to call upon the full resources and skills of several disciplines. The adaptive UI community holds a thorough knowledge regarding the adaptation of UIs with users and with contexts of use. Several solutions, models, formalisms, techniques, and mechanisms were proposed to develop adaptive UI. In this paper, we propose an approach based on the fuzzy set theory for modeling the concept of the appropriateness of different solutions of UI adaptation with different situations for which interactive systems have to adapt their UIs.

Keywords: adaptive user interfaces, adaptation solution’s appropriateness, fuzzy sets

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Authors: Amy Gooden

Abstract:

Despite its prevalence, direct-to-consumer genetic testing (DTC-GT) remains under-investigated in South Africa (SA), and the issue of regulation is yet to be examined. Therefore, this research maps the current legal landscape relating to DTC-GT in SA through a legal analysis of the extant law relevant to the industry and the issues associated therewith – with the intention of determining if and how DTC-GT is legally governed. This research analyses: whether consumers are legally permitted to collect their saliva; whether DTC-GT are medical devices; licensing, registering, and advertising; importing and exporting; and genetic research conducted by companies.

Keywords: direct-to-consumer genetic testing, genetic testing, health, law, regulation, South Africa

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Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: Md. Rakeb-Ul Islam, Daniel J. Schmidt, Jane M. Hughes

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Population connectivity plays an important role in the conservation and recovery of declining species. It affects genetic diversity, adaptive potential and resilience of species in nature. Loss of genetic variation can affect populations by limiting their ability to persist in stressful environmental conditions. Generally, freshwater fishes show higher levels of genetic structuring and subdivision among populations than those inhabiting estuarine or marine environments due to the presence of artificial (e.g. dams) and natural (e.g. mountain ranges) barriers to dispersal in freshwater ecosystems. The Australian smelt (Retropinnidae: Retropinna spp.) is a common freshwater fish species which is widely distributed throughout coastal and inland drainages in South - eastern Australia. These fish are found in a number of habitats from headwaters to lowland sites. They form large shoals in the mid to upper water column and inhabit deep slow – flowing pools as well as shallow fast flowing riffle-runs. Previously, Australian smelt consisted of two described taxa (Retropinna semoni and Retropinna tasmanica), but recently a complex of five or more species has been recognized based on an analysis of allozyme variation. In many area, they spend their entire life cycle within freshwater. Although most populations of the species are thought to be non-diadromous, it is still unclear whether individuals within coastal populations of Australian Retropinna exhibit diadromous migrations or whether fish collected from marine/estuarine environments are vagrants that have strayed out of the freshwater reaches. In this current study, the population structure and genetic differentiation of Australian smelt fish were investigated among eight rivers of South-East Queensland (SEQ), Australia. 11 microsatellite loci were used to examine genetic variation within and among populations. Genetic diversity was very high. Number of alleles ranged from three to twenty. Expected heterozygosity averaged across loci ranged from 0.572 to 0.852. There was a high degree of genetic differentiation among rivers (FST = 0.23), although low levels of genetic differentiation among populations within rivers. These extremely high levels of genetic differentiation suggest that the all smelt in SEQ complete their life history within freshwater, or, if they go to the estuary, they do not migrate to sea. This hypothesis is being tested further with a micro-chemical analysis of their otoliths.

Keywords: diadromous, genetic diversity, microsatellite, otolith

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Authors: Gabor Kiraly

Abstract:

Wine regions are based on equilibria between climate, soil, grape varieties, and farming expertise that define the special character and quality of local vine farming and wine production. Changes in climate conditions may increase risk of destabilizing this equilibrium. Adaptation decisions, including adjusting practices, processes and capitals in response to climate change stresses – may reduce this risk. However, farmers’ adaptive behavior are subject to a wide range of factors and forces such as links between climate change implications and production, farm - scale adaptive capacity and other external forces that might hinder them to make efficient response to climate change challenges. This paper will aim to study climate change adaptation practices and strategies of grape growers in a way of applying a complex and holistic approach involving theories, methods and tools both from environmental and social sciences. It will introduce the field of adaptation studies as an evidence - based discourse by presenting an overview of examples from wine regions where adaptation studies have already reached an advanced stage. This will serve as a theoretical background for a preliminary research with the aim to examine the feasibility and applicability of such a research approach in the Hungarian context.

Keywords: climate change, adaptation, viticulture, Hungary

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: A. Mansouri, F. Krim

Abstract:

This paper presents two techniques for DC motor parameters identification. We propose a numerical method using the adaptive extensive recursive least squares (AERLS) algorithm for real time parameters estimation. This algorithm, based on minimization of quadratic criterion, is realized in simulation for parameters identification of DC motor autoregressive moving average with extra inputs (ARMAX). As advanced technique, we use genetic algorithms (GA) identification with biased estimation for high dynamic performance speed regulation. DC motors are extensively used in variable speed drives, for robot and solar panel trajectory control. GA effectiveness is derived through comparison of the two approaches.

Keywords: ARMAX model, DC motor, AERLS, GA, optimization, parameter identification, PID speed regulation

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Agostinho Antunes

Abstract:

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: Seungwoo Kim, Yeongcheol Cho

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In this paper, a holonomic mobile robot is designed in omnidirectional wheels and an adaptive fuzzy controller is presented for its precise trajectories. A kind of adaptive controller based on fuzzy multi-layered algorithm is used to solve the big parametric uncertainty of motor-controlled dynamic system of 3-wheels omnidirectional mobile robot. The system parameters such as a tracking force are so time-varying due to the kinematic structure of omnidirectional wheels. The fuzzy adaptive control method is able to solve the problems of classical adaptive controller and conventional fuzzy adaptive controllers. The basic idea of new adaptive control scheme is that an adaptive controller can be constructed with parallel combination of robust controllers. This new adaptive controller uses a fuzzy multi-layered architecture which has several independent fuzzy controllers in parallel, each with different robust stability area. Out of several independent fuzzy controllers, the most suited one is selected by a system identifier which observes variations in the controlled system parameter. This paper proposes a design procedure which can be carried out mathematically and systematically from the model of a controlled system. Finally, the good performance of a holonomic mobile robot is confirmed through live tests of the tracking control task.

Keywords: fuzzy adaptive control, fuzzy multi-layered controller, holonomic mobile robot, omnidirectional wheels, robustness and stability.

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Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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Authors: Aslı Şalcıoğlu, Grigorous Krey, Raşit Bilgin

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In this study, the effect of the Turkish Straits System (TSS), comprising a biogeographical boundary that forms the connection between the Mediterranean and the Black Sea, on the evolutionary history, phylogeography and intraspecific gene flow of the whiting (Merlangius merlangus) a demersal fish species, was investigated. For these purposes, the mitochondrial DNA (CO1, cyt-b) genes were used. In addition, genetic comparisons samples from other regions (Greece, France, Atlantic) obtained from GenBank and Barcode of Life Database were made to better understand the phylogeographic history of the species at a larger geographic scale. Within this study, high level of genetic differentiation was observed along the Turkish coastal waters based on cyt-b gene, suggesting that TSS is a barrier to dispersal. Two different sub-species were also observed based on mitochondrial DNA, one found in Turkish coastal waters and Greece (M.m euxinus) and other (M.m. merlangus) in Atlantic, France.

Keywords: genetic, phylogeography, TSS, whiting

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Authors: Falak Nawaz

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The Climate Change Vulnerability and Capacity Assessment carried out in the coastal regions of Thatta and Malir districts underscore the potential risks and challenges associated with climate change affecting water resources. This study was conducted by the author using participatory rural appraisal tools, with a greater focus on conducting focus group discussions, direct observations, key informant interviews, and other PRA tools. The assessment delves into the specific impacts of climate change along the coastal belt, concentrating on aspects such as rising sea levels, depletion of freshwater, alterations in precipitation patterns, fluctuations in water table levels, and the intrusion of saltwater into rivers. These factors have significant consequences for the availability and quality of water resources in coastal areas, manifesting in frequent migration and alterations in agriculture-based livelihood practices. Furthermore, the assessment assesses the adaptive capacity of communities and organizations in these coastal regions to effectively confront and alleviate the effects of climate change on water resources. It considers various measures, including infrastructure enhancements, water management practices, adjustments in agricultural approaches, and disaster preparedness, aiming to bolster adaptive capacity. The study's findings emphasize the necessity for prompt actions to address identified vulnerabilities and fortify the adaptive capacities of Sindh's coastal areas. This calls for comprehensive strategies and policies promoting sustainable water resource management, integrating climate change considerations, and providing essential resources and support to vulnerable communities.

Keywords: climate, climate change adaptation, disaster reselience, vulnerability, capacity, assessment

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Hadi Adibi-Asl, Alireza Doosthosseini, Amir Taghavipour

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This paper studies the design of an adaptive control strategy to tune an active steering system for better drivability and maneuverability. In the first step, adaptive control strategy is applied to estimate the uncertain parameters on-line (e.g. cornering stiffness), then the estimated parameters are fed into the pole placement controller to generate corrective feedback gain to improve the steering system dynamic’s characteristics. The simulations are evaluated for three types of road conditions (dry, wet, and icy), and the performance of the adaptive pole placement control (APPC) are compared with pole placement control (PPC) and a passive system. The results show that the APPC strategy significantly improves the yaw rate and side slip angle of a bicycle plant model.

Keywords: adaptive control, active steering, pole placement, vehicle dynamics

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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Authors: Golnaz Salehi Mourkani

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Two conception of Integrity and authenticity, in texts have just applied respectively for adaptive reuse and conservation, which in comparison with word “Integrity” in texts related to adaptive reuse is much more seen than Authenticity, which is often applied with conservation. According to Stove, H., (2007) in some cases, this conception have used with this form “integrity/authenticity” in texts, that cause to infer one conception of both. In this article, with referring to definitions and comparison of aspects specialized to both concept of “Authenticity and Integrity” through literature review, it was attempted to examine common and distinctive aspects of each one, then with this method we can reach their differences in adaptive reuse.

Keywords: adaptive reuse, integrity, authenticity, conservation

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Authors: Ju-Chun Chien

Abstract:

The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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