Search results for: preimplantation genetic screening

Authors: Shahzad Bhattiab, M. Aslamkhana, Sana Abbasbc, Marcella Attimonellid, Kumarasamy Thangaraje, Erica Martinha Silva de Souzaf, Uzay U. Sezen

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The present study was designed to investigate three regions of mitochondrial DNA, HVI, HVII and HVIII, to hold a powwow genetic diversity and affiliations in 115 probands of 6 major ethnic groups, viz., Bijarani, Chandio, Ghallu, Khoso, Nasrani and Solangi, in the province of Sindh of Pakistan. For this purpose 88 haplotypes were scrutinized, defined by particular set of nucleotides (ignoring the C insertions around position 309 and 315). In spite of that 82% sequences were observed once, 12 % twice and 5.2 % thrice. The most common South Asian haplotypes were observed M (42%), N (6.9%) and R (6.9%) whereas west Eurasian haplotypes were J (1.7%), U (23.4%), H (9.5%), W (6.9%) and T (0.86%), in six ethnic groups. A random match probability between two unrelated individuals was found 0.06 %, while genetic diversity was ranged to be 0.991 to 0.999, and nucleotide diversity ranged from 0.0089 to 0.0142 for the whole control region of the population studied.

Keywords: mtDNA haplogroups, control region, Pakistan, Sindh, ethnicity

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Authors: C. Vázquez, L. M. Gigirey, C. P. del Oro, S. Seoane

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Early detection of visual problems plays a key role in the aging process. However, although vision problems are common among older people, the percentage of aging people who perform regular optometric exams is low. In fact, uncorrected refractive errors are one of the main causes of visual impairment in this group of the population. Purpose: To evaluate functional vision of older residents in order to show the urgent need of visual screening programs in Galician nursing homes. Methodology: We examined 364 older adults aged 65 years and over. To measure vision of the daily living, we tested distance and near presenting visual acuity (binocular visual acuity with habitual correction if warn, directional E-Snellen) Presenting near vision was tested at the usual working distance. We defined visual impairment (distance and near) as a presenting visual acuity less than 0.3. Exclusion criteria included immobilized residents unable to reach the USC Dual Sensory Loss Unit for visual screening. Association between categorical variables was performed using chi-square tests. We used Pearson and Spearman correlation tests and the variance analysis to determine differences between groups of interest. Results: 23,1% of participants have visual impairment for distance vision and 16,4% for near vision. The percentage of residents with far and near visual impairment reaches 8,2%. As expected, prevalence of visual impairment increases with age. No differences exist with regard to the level of functional vision between gender. Differences exist between age group respect to distance vision, but not in case of near vision. Conclusion: prevalence of visual impairment is high among the older people tested in this pilot study. This means a high percentage of older people with limitations in their daily life activities. It is necessary to develop an effective vision screening program for early detection of vision problems in Galician nursing homes.

Keywords: functional vision, elders, aging, nursing homes

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Authors: Hussain Syed Asad, Richard Kwok Kit Yuen, Gongsheng Huang

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Real-time optimization has been considered an effective approach for improving energy efficient operation of heating, ventilation, and air-conditioning (HVAC) systems. In model-based real-time optimization, model mismatches cannot be avoided. When model mismatches are significant, the performance of the real-time optimization will be impaired and hence the expected energy saving will be reduced. In this paper, the model mismatches for chiller plant on real-time optimization are considered. In the real-time optimization of the chiller plant, simplified semi-physical or grey box model of chiller is always used, which should be identified using available operation data. To overcome the model mismatches associated with the chiller model, hybrid Genetic Algorithms (HGAs) method is used for online real-time training of the chiller model. HGAs combines Genetic Algorithms (GAs) method (for global search) and traditional optimization method (i.e. faster and more efficient for local search) to avoid conventional hit and trial process of GAs. The identification of model parameters is synthesized as an optimization problem; and the objective function is the Least Square Error between the output from the model and the actual output from the chiller plant. A case study is used to illustrate the implementation of the proposed method. It has been shown that the proposed approach is able to provide reliability in decision making, enhance the robustness of the real-time optimization strategy and improve on energy performance.

Keywords: energy performance, hybrid adaptive modeling, hybrid genetic algorithms, real-time optimization, heating, ventilation, and air-conditioning

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Authors: Mehdi Nasr Esfahani, Abdal-Rasool Gholamalian, Abdelfattah A. Dababat

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Wheat, Triticum aestivum L. is one of the most important and strategic crops in the human diet. Several diseases threaten this particular crop. Common root rot disease of wheat by a fungal agent, Bipolaris sorokiniana is one of the important diseases, causing considerable losses worldwide. Resistant sources are the only feasible and effective method of control for managing diseases. In this study, the response of 33 domestic and exotic wheat genotypes, including cultivars and promising lines were screened to B. sorokiniana at greenhouse and field conditions, based on five scoring scale indexes of 0 to 100 severity percentage. The screening was continued on resistant wheat genotypes and repeated several times to confirm the greenhouse and field results. Statistical and cluster analysis of data was performed using SAS and SPSS software, respectively. The results showed that, the response of wheat genotypes to the disease in the greenhouse and field conditions was highly significant. The highest rate of common root rot disease infection, B. sorokiniana in the greenhouse and field, was of CVS. Karkheh and Beck Cross-Roshan with 60.83% and 59.16% disease severity respectively, and the lowest one were in cv. Alvand with 18.33%, followed by cv. Baharan with 19.16% disease severity, with a highly significant difference respectively. The remaining wheat genotypes were located in between these two highest and lowest infected groups to B. sorokiniana significantly. There was a high correlation coefficient between the related statistical groups and cluster analysis.

Keywords: wheat, rot, root, crown, fungus, genotype, resistance

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Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: Mona Almanasef, Dalia Almaghaslah, Geetha Kandasamy, Rajalakshimi Vasudevan, Sadia Batool

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Background: Community pharmacists are one of the most accessible healthcare practitioners worldwide and their services are used by a large proportion of the population. Expanding the roles of community pharmacists could contribute to reducing pressure on general health practice and other areas of health services. This research aimed to evaluate the contribution of community pharmacists in the provision of public health services and to investigate the perceived barriers to the provision of these services in Saudi Arabia. Materials and Methods: This study followed a cross-sectional design using an online anonymous self-administered questionnaire. The study took place in the Asir region, Saudi Arabia, between September 2019 and February 2020. A convenience sampling strategy was used to select and recruit the study participants. The questionnaire was adapted from previous research and involved three sections: demographics, involvement in public health services and barriers to practicing public health roles. Results: The total number of respondents was 193. The proportion of respondents who reported that they were “very involved” or “involved” in each service was 61.7% for weight management, 60.6% for sexual health, 57.5% for healthy eating, 53.4% for physical activity promotion, 51.3% for dental health, 46.1% for smoking cessation, 39.4% for screening for diabetes, 35.7% for screening for hypertension, 31.1% for alcohol dependence and drug misuse counseling, 30.6% for screening for dyslipidaemia, and 21.8% for vaccination and immunization. Most of the barriers in the current research were rated as having low relevance to the provision of public health services. Conclusion: Findings in the current research suggest that community pharmacists in the Asir region have varying levels of involvement in public health roles. Further research needs to be undertaken to understand the barriers to the provision of public health services and what strategies would be beneficial for enhancing the public health role of community pharmacists in Saudi Arabia.

Keywords: community pharmacist, public health, Asir region, Saudi Arabia

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Authors: Hanaa A. S. Oraby, Amal A. M. Hassan, Mahmoud M. Sakr, Atef A. A. Haiba

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Applying the profiling approach for the assessment of proteomic variations due to genetic modification of the Egyptian tomato cultivar "Edkawy", three complementary approaches were used. These methods are amino acids analysis, gel electrophoresis, and Gas chromatography coupled with mass spectrometry (GC/MS). The results of the present study Show evidence of proteomic variations between both modified tomato and its non-modified counterpart. Amino acids concentrations, and the protein patterns separation on the 1D SDS-PAGE were not similar in the case of transformed tomato compared to that of the non-transformed counterpart. These detected differences are most likely derived from the process of transformation. Results also revealed that the efficiency of GC/MS approach to identify a mixture of unknown proteins is limited. GC/MS analysis was only able to identify few number of protein molecules. Therefore, more advanced and specific technologies like MALDI-TOF-MS are recommended to be employed.

Keywords: GMOs, unintended effects, proteomic variations, 1D SDS-PAGE, GC/MS

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Authors: Rachana Tank, Donald. M. Lyall, Kristin Flegal, Joey Ward, Jonathan Cavanagh

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Alzheimer’s research UK estimates by 2050, 2 million individuals will be living with Late Onset Alzheimer’s disease (LOAD). However, individuals experience considerable cognitive deficits and brain pathology over decades before reaching clinically diagnosable LOAD and studies have utilised gene candidate studies such as genome wide association studies (GWAS) and polygenic risk (PGR) scores to identify high risk individuals and potential pathways. This investigation aims to determine whether high genetic risk of LOAD is associated with worse brain MRI and cognitive performance in healthy older adults within the UK Biobank cohort. Previous studies investigating associations of PGR for LOAD and measures of MRI or cognitive functioning have focused on specific aspects of hippocampal structure, in relatively small sample sizes and with poor ‘controlling’ for confounders such as smoking. Both the sample size of this study and the discovery GWAS sample are bigger than previous studies to our knowledge. Genetic interaction between loci showing largest effects in GWAS have not been extensively studied and it is known that APOE e4 poses the largest genetic risk of LOAD with potential gene-gene and gene-environment interactions of e4, for this reason we  also analyse genetic interactions of PGR with the APOE e4 genotype. High genetic loading based on a polygenic risk score of 21 SNPs for LOAD is associated with worse brain MRI and cognitive outcomes in healthy individuals within the UK Biobank cohort. Summary statistics from Kunkle et al., GWAS meta-analyses (case: n=30,344, control: n=52,427) will be used to create polygenic risk scores based on 21 SNPs and analyses will be carried out in N=37,000 participants in the UK Biobank. This will be the largest study to date investigating PGR of LOAD in relation to MRI. MRI outcome measures include WM tracts, structural volumes. Cognitive function measures include reaction time, pairs matching, trail making, digit symbol substitution and prospective memory. Interaction of the APOE e4 alleles and PGR will be analysed by including APOE status as an interaction term coded as either 0, 1 or 2 e4 alleles. Models will be adjusted partially for adjusted for age, BMI, sex, genotyping chip, smoking, depression and social deprivation. Preliminary results suggest PGR score for LOAD is associated with decreased hippocampal volumes including hippocampal body (standardised beta = -0.04, P = 0.022) and tail (standardised beta = -0.037, P = 0.030), but not with hippocampal head. There were also associations of genetic risk with decreased cognitive performance including fluid intelligence (standardised beta = -0.08, P<0.01) and reaction time (standardised beta = 2.04, P<0.01). No genetic interactions were found between APOE e4 dose and PGR score for MRI or cognitive measures. The generalisability of these results is limited by selection bias within the UK Biobank as participants are less likely to be obese, smoke, be socioeconomically deprived and have fewer self-reported health conditions when compared to the general population. Lack of a unified approach or standardised method for calculating genetic risk scores may also be a limitation of these analyses. Further discussion and results are pending.

Keywords: Alzheimer's dementia, cognition, polygenic risk, MRI

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Authors: Walid Moudani, Ahmad Shahin

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This research presents a study to handle the recruitment services system. It aims to enhance a business intelligence system by embedding data mining in its core engine and to facilitate the link between job searchers and recruiters companies. The purpose of this study is to present an intelligent management system for supporting recruitment services based on data mining methods. It consists to apply segmentation on the extracted job postings offered by the different recruiters. The details of the job postings are associated to a set of relevant features that are extracted from the web and which are based on critical criterion in order to define consistent clusters. Thereafter, we assign the job searchers to the best cluster while providing a ranking according to the job postings of the selected cluster. The performance of the proposed model used is analyzed, based on a real case study, with the clustered job postings dataset and classified job searchers dataset by using some metrics.

Keywords: job postings, job searchers, clustering, genetic algorithms, business intelligence

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Authors: Inigo de Miguel Beriain

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Genetic data of deceased persons are of great interest for both biomedical research and clinical use. This is due to several reasons. On the one hand, many of our diseases have a genetic component; on the other hand, we share genes with a good part of our biological family. Therefore, it would be possible to improve our response considerably to these pathologies if we could use these data. Unfortunately, at the present moment, the status of data on the deceased is far from being satisfactorily resolved by the EU data protection regulation. Indeed, the General Data Protection Regulation has explicitly excluded these data from the category of personal data. This decision has given rise to a fragmented legal framework on this issue. Consequently, each EU member state offers very different solutions. For instance, Denmark considers the data as personal data of the deceased person for a set period of time while some others, such as Spain, do not consider this data as such, but have introduced some specifically focused regulations on this type of data and their access by relatives. This is an extremely dysfunctional scenario from multiple angles, not least of which is scientific cooperation at the EU level. This contribution attempts to outline a solution to this dilemma through an alternative proposal. Its main hypothesis is that, in reality, health data are, in a sense, a rara avis within data in general because they do not refer to one person but to several. Hence, it is possible to think that all of them can be considered data subjects (although not all of them can exercise the corresponding rights in the same way). When the person from whom the data were obtained dies, the data remain as personal data of his or her biological relatives. Hence, the general regime provided for in the GDPR may apply to them. As these are personal data, we could go back to thinking in terms of a general prohibition of data processing, with the exceptions provided for in Article 9.2 and on the legal bases included in Article 6. This may be complicated in practice, given that, since we are dealing with data that refer to several data subjects, it may be complex to refer to some of these bases, such as consent. Furthermore, there are theoretical arguments that may oppose this hypothesis. In this contribution, it is shown, however, that none of these objections is of sufficient substance to delegitimize the argument exposed. Therefore, the conclusion of this contribution is that we can indeed build a general framework on the processing of personal data of deceased persons in the context of the GDPR. This would constitute a considerable improvement over the current regulatory framework, although it is true that some clarifications will be necessary for its practical application.

Keywords: collective data conceptual issues, data from deceased people, genetic data protection issues, GDPR and deceased people

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Authors: Asma'u Mahe, Abdullahi A. Imam, Adamu J. Alhassan, Nasiru Abdullahi, Sadiya A. Bichi, Nura Lawal, Kamaluddeen Babagana

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Malaria is a disease with global health significance. It is caused by parasites and transmitted by Anopheles mosquitoes. Increase in insecticide resistance threatens the disease vector control. The strength of selection pressure acting on a mosquito population in relation to insecticide resistance can be assess by determining the genetic diversity of a fragment spanning exon- 20 of IIS6 of the voltage gated sodium channel (VGSC). Larval samples reared to adulthood were identified and kdr (knock down resistance) profile was determined. The DNA sequences were used to assess the patterns of genetic differentiation by determining the levels of genetic variability between the Anopheles mosquitoes. Genetic differentiation of the Anopheles mosquitoes based on a portion of the voltage gated sodium channel gene was obtained. Polymorphisms were detected; sequence variation and analysis were presented as a phylogenetic tree. Phylogenetic tree of VGSC haplotypes was constructed for samples of the Anopheles mosquitoes using the maximum likelihood method in MEGA 6.0 software. DNA sequences were edited using BioEdit sequence editor. The edited sequences were aligned with reference sequence (Kisumu strain). Analyses were performed as contained in dnaSP 5.10. Results of genetic parameters of polymorphism and haplotype reconstruction were presented in count. Twenty sequences were used for the analysis. Regions selected were 1- 576, invariable (monomorphic) sites were 460 while variable (polymorphic) sites were 5 giving the number of total mutations observed in this study. Mutations obtained from the study were at codon 105: TTC- Phenylalanine replaces TCC- Serine, codon 513: TAG- Termination replaces TTG- Leucine, codon 153, 300 and 553 mutations were non-synonymous. From the constructed phylogenetic tree, some groups were shown to be closer with Exon20Gambiae Kisumu (Reference strain) having some genetic distance, while 5-Exon20Gambiae-F I13.ab1, 18-Exon20Gambiae-F C17.ab1, and 2-Exon20Gambiae-F C13.ab1 clustered together genetically differentiated away from others. Mutations observed in this study can be attributed to the high insecticide resistance profile recorded in the study areas. Haplotype networks of pattern of genetic variability and polymorphism for the fragment of the VGSC sequences of sampled Anopheles mosquitoes revealed low haplotypes for the present study. Haplotypes are set of closely linked DNA variation on X-chromosome. Haplotypes were scaled accordingly to reflect their respective frequencies. Low haplotype number, four VGSC-1014F haplotypes were observed in this study. A positive association was previously established between low haplotype number of VGSC diversity and pyrethroid resistance through kdr mechanism. Significant values at (P < 0.05) of Tajima D and Fu and Li D’ were observed for some of the results indicating possible signature of positive selection on the fragment of VGSC in the study. This is the first report of VGSC-1014F in the study site. Based on the results, the mutation was present in low frequencies. However, the roles played by the observed mutations need further investigation. Mutations, environmental factors among others can affect genetic diversity. The study area has recorded increase in insecticide resistance that can affect vector control in the area. This finding might affect the efforts made against malaria. Sequences were deposited in GenBank for Accession Number.

Keywords: anopheles mosquitoes, insecticide resistance, kdr, malaria, voltage gated sodium channel

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Authors: Arslan Ellahi, Syed Amjad Hussain

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Software Testing is a vital process in software development life cycle. We can attain the quality of software after passing it through software testing phase. We have tried to find out automatic test data generation techniques that are a key research area of software testing to achieve test automation that can eventually decrease testing time. In this paper, we review some of the approaches presented in the literature which use evolutionary search based algorithms like Genetic Algorithm, Particle Swarm Optimization (PSO), etc. to validate the test data generation process. We also look into the quality of test data generation which increases or decreases the efficiency of testing. We have proposed test data generation techniques for model-based testing. We have worked on tuning and fitness function of PSO algorithm.

Keywords: search based, evolutionary algorithm, particle swarm optimization, genetic algorithm, test data generation

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Authors: Khawlah Al-Khalidi

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Prevalence of lower third molar impactions and angulations among Yemeni population The purpose of this study was to look into the prevalence of lower third molars in a sample of patients from Ibb University Affiliated Hospital, as well as to study and categorise their position by using Pell and Gregory classification, and to look into a possible correlation between their position and the indication for extraction. Materials and methods: This is a retrospective, observational study in which a sample of 200 patients from Ibb University Affiliated Hospital were studied, including patient record validation and orthopantomography performed in screening appointments in people aged 16 to 21. Results and discussion: Males make up 63% of the sample, while people aged 19 to 20 make up 41.2%. Lower third molars were found in 365 of the 365 instances examined, accounting for 91% of the sample under study. According to Pell and Gregory's categorisation, the most common position is IIB, with 37%, followed by IIA with 21%; less common classes are IIIA, IC, and IIIC, with 1%, 3%, and 3%, respectively. It was feasible to determine that 56% of the lower third molars in the sample were recommended for extraction during the screening consultation. Finally, there are differences in third molar location and angulation. There was, however, a link between the available space for third molar eruption and the need for tooth extraction.

Keywords: lower third molar, extraction, Pell and Gregory classification, lower third molar impaction

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Authors: Deniz Dincel, Sena Ardicli, Hale Samli, Mustafa Ogan, Faruk Balci

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The aim of the study was to determine the effects of some environmental and genetic factors on growth, fertility traits, milk yield and composition in Saanen goats. For this purpose, the total of 173 Saanen goats and kids were investigated for growth, fertility and milk traits in Marmara Region of Turkey. Fertility parameters (n=70) were evaluated during two years. Milk samples were collected during the lactation and the milk yield/components (n=59) of each goat were calculated. In terms of CSN3 and AGPAT6 gene; the genotypes were defined by PCR-RFLP. Saanen kids (n=86-112) were measured from birth to 6 months of life. The birth, weaning, 60ᵗʰ, 90ᵗʰ, 120ᵗʰ and 180tᵗʰ days of average live weights were calculated. The effects of maternal age on pregnancy rate (p < 0.05), birth rate (p < 0.05), infertility rate (p < 0.05), single born kidding (p < 0.001), twinning rate (p < 0.05), triplet rate (p < 0.05), survival rate of kids until weaning (p < 0.05), number of kids per parturition (p < 0.01) and number of kids per mating (p < 0.01) were found significant. The impacts of year on birth rate (p < 0.05), abortion rate (p < 0.001), single born kidding (p < 0.01), survival rate of kids until weaning (p < 0.01), number of kids per mating (p < 0.01) were found significant for fertility traits. The impacts of lactation length on all milk yield parameters (lactation milk, protein, fat, totally solid, solid not fat, casein and lactose yield) (p < 0.001) were found significant. The effects of age on all milk yield parameters (lactation milk, protein, fat, total solid, solid not fat, casein and lactose yield) (p < 0.001), protein rate (p < 0.05), fat rate (p < 0.05), total solid rate (p < 0.01), solid not fat rate (p < 0.05), casein rate (p < 0.05) and lactation length (p < 0.01), were found significant too. However, the effect of AGPAT6 gene on milk yield and composition was not found significant in Saanen goats. The herd was found monomorphic (FF) for CSN3 gene. The effects of sex on live weights until 90ᵗʰ days of life (birth, weaning and 60ᵗʰ day of average weight) were found significant statistically (p < 0.001). The maternal age affected only birth weight (p < 0,001). The effects month at birth on all of the investigated day [the birth, 120ᵗʰ, 180ᵗʰ days (p < 0.05); the weaning, 60ᵗʰ, 90ᵗʰ days (p < 0,001)] were found significant. The birth type was found significant on the birth (p < 0,001), weaning (p < 0,01), 60ᵗʰ (p < 0,01) and 90ᵗʰ (p < 0,01) days of average live weights. As a result, screening the other regions of CSN3, AGPAT6 gene and also investigation the phenotypic association of them should be useful to clarify the efficiency of target genes. Environmental factors such as maternal age, year, sex and birth type were found significant on some growth, fertility and milk traits in Saanen goats. So consideration of these factors could be used as selection criteria in dairy goat breeding.

Keywords: fertility, growth, milk yield, Saanen goats

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Authors: M. M. A. Abdalla, M. H. Aboul-Nasr, Shimaa H. Mosallam

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Ten RAPD markers were used to detect the genetic variability and relationships among four broccoli and three cabbage genotypes. The results of RAPD analysis showed that all the five primers surveyed detected polymorphism for all broccoli genotypes. A total of 39 DNA bands were amplified by the 5 primers from all genotype and 21 of these fragments showed polymorphism (53.85%). The rest of these bands (46.15%) were common between the four genotypes. On the other hand, all of the 7 primers surveyed, used with cabbage, detected polymorphism among all cabbage genotype. A total of 69 DNA bands were amplified by the 7 primers from all genotypes and 23 of these fragments showed polymorphism (33.33%). The rest of these bands (66.67%) were common between the three genotypes. The investigation suggested that the RAPD approach showed considerable potential for identifying and discriminating broccoli and cabbage genotypes.

Keywords: Brassica oleracea, genotypes, genetic markers, varietal identification, DNA polymorphism, RAPD markers

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Authors: Zeinab Haji Abolhasani, Romeo Marian, Lee Luong

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This paper and its companions (Part II, Part III) will concentrate on optimizing a class of supply chain problems known as Multi- Commodities Consumer Supply Chain (MCCSC) problem. MCCSC problem belongs to production-distribution (P-D) planning category. It aims to determine facilities location, consumers’ allocation, and facilities configuration to minimize total cost (CT) of the entire network. These facilities can be manufacturer units (MUs), distribution centres (DCs), and retailers/end-users (REs) but not limited to them. To address this problem, three major tasks should be undertaken. At the first place, a mixed integer non-linear programming (MINP) mathematical model is developed. Then, system’s behaviors under different conditions will be observed using a simulation modeling tool. Finally, the most optimum solution (minimum CT) of the system will be obtained using a multi-objective optimization technique. Due to the large size of the problem, and the uncertainties in finding the most optimum solution, integration of modeling and simulation methodologies is proposed followed by developing new approach known as GASG. It is a genetic algorithm on the basis of granular simulation which is the subject of the methodology of this research. In part II, MCCSC is simulated using discrete-event simulation (DES) device within an integrated environment of SimEvents and Simulink of MATLAB® software package followed by a comprehensive case study to examine the given strategy. Also, the effect of genetic operators on the obtained optimal/near optimal solution by the simulation model will be discussed in part III.

Keywords: supply chain, genetic algorithm, optimization, simulation, discrete event system

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Authors: Manvender Singh

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Temperature is one of the most important climatic parameter for explaining the geographic distribution of ectothermic species. Empirical investigations on norms of the reaction according to developmental temperatures are helpful in analyzing the adapture capacity of a species which may be related to its ecological niche. In the present investigation, we have compared the effects of developmental temperatures on fecundity, hatchability, viability, and duration of development in five natural populations of Drosophila bipectinata along the latitudinal range. The clinal patterns for fecundity, as well as ovariole number, were observed which showed significant positive correlation (r=0.97). Similarly, hatchability and duration of development also revealed a positive correlation with latitude. Hence, suggesting the role of natural selection in maintaining the genetic divergence for life history traits along the north-south transect of the Indian Subcontinent.

Keywords: growth temperature, fecundity, hatchability, viability, duration of development, Drosophila

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Authors: Patience Orobosa Olajide

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Five hydrocarbon degrading bacterial strains isolated from contaminated environment were investigated with respect to polyhydroxybutyrate (PHB) biosynthesis. Screening for bioplastic production was done on assay mineral salts agar medium containing 0.2% poly (3-hydroxybutyrate) as the sole carbon source. Two of the test bacteria were positive for PHB biosynthesis and were identified based on gram staining, biochemical tests, 16S rRNA gene sequence analysis as Pseudomonas aeruginosa and Bacillus licheniformis which grew at 37 and up to 65 °C respectively, thus suggesting the later to be thermotolerant. In this study, the effects of different carbon and nitrogen sources on PHB production in these strains were investigated. Maximum PHB production was obtained in 48 hr for the two strains and amounted to yields of 72.86 and 62.22 percentages for Bacillus licheniformis and Pseudomonas aeruginosa respectively. In these strains, glycine was the most efficient carbon sources for the production of PHB compared with other carbon (glucose, lactose, sucrose, Arabinose) and nitrogen (L- glycine, L-cysteine, DL-Tryptophan, and Potassium Nitrate) sources. The screening of microbial strains for industrial PHB production should be based on several factors including the cell’s capability to mineralize an inexpensive substrate, rate of growth and the extent of polymer accumulation.

Keywords: bacteria, poly-3-hydroxybutyrate (PHB), hydrocarbon, thermotolerant

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Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: Debjani Ghosh, Goutam Chowdhury, Prosenjit Samanta, Asish Kumar Mukhopadhyay

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Acute diarrhoea caused by diarrheagenic Escherichia coli (DEC) is one of the major public health problem in developing countries, mainly in Asia and Africa. DEC consists of six pathogroups, but the majority of the cases were associated with the three pathogropus, enterotoxigenic E. coli (ETEC), enteroaggregative E. coli (EAEC), and enteropathogenic E. coli (EPEC). Hence, we studied the prevalence and antimicrobial resistance of these three major DEC pathogroups in hospitalized diarrheal patients in Kolkata, India, during 2012-2019 with a large sample size. 8,891 stool samples were processed, and 7.8% of them was identified as DEC infection screened by multiplex PCR, in which ETEC was most common (47.7%) followed by EAEC (38.4%) and EPEC (13.9%). Clinical patient history suggested that children <5 years of age were mostly affected with ETEC and EAEC, whereas people within >5-14 years of age were significantly associated with EPEC and ETEC infections. Antibiogram profile showed a high prevalence of multidrug resistant (MDR) isolates among DEC (56.9%), in which 9% were resistant to antibiotics of six different antimicrobial classes. Screening of the antibiotic resistance conferring genes in DEC showed the presence of blaCTX-M (30.2%) in highest number followed by blaTEM (27.5%), tetB (18%), sul2 (12.6%), strA (11.8%), aadA1 (9.8%), blaOXA-1 (9%), dfrA1 (1.6%) and blaSHV (1.2%) which indicates the existence of mobile genetic elements in those isolates. Therefore, the presence of MDR DEC strains in higher number alarms the public health authorities to take preventive measures before the upsurge of the DEC caused diarrhea cases in near future.

Keywords: diarrheagenic escherichia coli, ETEC, EAEC, EPEC

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Authors: Benjamin O. Opawale, Anthony K. Onifade, Ayodele O. Ogundare

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The phytochemical and antimicrobial activities of stem bark extracts (cold water, ethanol and acetone) of Lovoa trichiliodes and Trichilia heudelotii were investigated using standard methods. The percentage yield of the extracts ranged from 3.90 to 6.53% and 9.63 to 10.20% respectively for the plant materials. Phytochemical screening of the plant materials revealed the presence of alkaloids, saponins, tannins, phlobatanins, phenols, anthraquinones and glycosides. Terpenes, cardenolides and flavonoids were absent in the two plants. All the extracts remarkably inhibited the growth of Bacillus subtilis, Staphylococcus aureus, Escherichia coli, Enterococcus faecalis, Klebsiella pneumoniae, Salmonella typhii, Aspergillus flavus, Candida albicans and Candida glabrata. The mean diameter of the zone of inhibition exhibited by the extracts was between 8.00 and 22.33mm while the minimum inhibitory concentration (MIC) was between 2.5 and 200mg/ml. However, the cold water extracts of L. trichiliodes stem bark exhibited no inhibitory activity against the organisms. The results of this investigation confirmed the folkloric uses of these plants for the treatment of various infectious diseases.

Keywords: antimicrobial, infectious diseases, phytochemical, T. heudelotii

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Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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Authors: Rasime Kalkan, Emine Ikbal Atli, Ali Arslantaş, Muhsin Özdemir, Sevilhan Artan

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Glioblastoma (WHO grade IV), is the malignant form of brain tumor, the genetic background of the GBM is highly variable. The tumor mass of a GBM is multilayered and every tumor layer shows distinct characteristics with a different cell population. The treatment planning of GBM should be focused on the tumor genetic characteristics. We screened primary glioblastoma multiforme (GBM) in a population-based study for MGMT and RARβ methylation and IDH1 mutation correlated them with clinical data and treatment. There was no correlation between MGMT-promoter methylation and overall survival. The overall survival time of the patients with methylated RARβ was statically (OS;p<0,05) significance between the patients who were treated with chemotherapy and radiotherapy. Here we showed the status of IDH1 gene associatied with younger age. We demonstrated that the together with MGMT gene the RARβ gene should be used as a potantial treatment decision marker for GBMs.

Keywords: RARβ, primary glioblastoma multiforme, methylation, MGMT

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Authors: Rajendra K. Meena, Maneesh S. Bhandari, Santan Barthwal, Harish S. Ginwal

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Microsatellite markers are the most valuable tools for the characterization of plant genetic resources or population genetic analysis. Since it is codominant and allelic markers, utilizing them in polyploid species remained doubtful. In such cases, the microsatellite marker is usually analyzed by treating them as a dominant marker. In the current study, it has been showed that despite losing the advantage of co-dominance, microsatellite markers are still a powerful tool for genotyping of polyploid species because of availability of large number of reproducible alleles per locus. It has been studied by genotyping of 19 subpopulations of Dendrocalamus hamiltonii (hexaploid bamboo species) with 17 polymorphic simple sequence repeat (SSR) primer pairs. Among these, ten primers gave typical banding pattern of microsatellite marker as expected in diploid species, but rest 7 gave an unusual pattern, i.e., more than two bands per locus per genotype. In such case, genotyping data are generally analyzed by considering as dominant markers. In the current study, data were analyzed in both ways as dominant and co-dominant. All the 17 primers were first scored as nonallelic data and analyzed; later, the ten primers giving standard banding patterns were analyzed as allelic data and the results were compared. The UPGMA clustering and genetic structure showed that results obtained with both the data sets are very similar with slight variation, and therefore the SSR marker could be utilized to characterize polyploid species by considering them as a dominant marker. The study is highly useful to widen the scope for SSR markers applications and beneficial to the researchers dealing with polyploid species.

Keywords: microsatellite markers, Dendrocalamus hamiltonii, dominant and codominant, polyploids

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Authors: Ezio Bassi, Francesco Vercesi, Francesco Benzi

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The aim of this study is to evaluate the potentiality of synchronous reluctance motors for lift systems by also evaluating the vibroacoustic behaviour of the motor. Two types of synchronous machines are designed, analysed, and compared with an equivalent induction motor, which is the more common solution in such gearbox applications. The machines' performance are further improved with optimization procedures based on multiobjective optimization genetic algorithm (MOGA). The difference between the two synchronous motors consists in the rotor geometry; a symmetric and an asymmetric rotor design were investigated. The evaluation of the vibroacoustic performance has been conducted with a multi-variable model and finite element software taking into account electromagnetic, mechanical, and thermal features of the motor, therefore carrying out a multi-physics analysis of the electrical machine.

Keywords: synchronous reluctance motor, vibro-acoustic, lift systems, genetic algorithm

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Authors: Omaima N. Ahmad AL-Allaf

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Over communication networks, images can be easily copied and distributed in an illegal way. The copyright protection for authors and owners is necessary. Therefore, the digital watermarking techniques play an important role as a valid solution for authority problems. Digital image watermarking techniques are used to hide watermarks into images to achieve copyright protection and prevent its illegal copy. Watermarks need to be robust to attacks and maintain data quality. Therefore, we discussed in this paper two approaches for image watermarking, first is based on Particle Swarm Optimization (PSO) and the second approach is based on Genetic Algorithm (GA). Discrete wavelet transformation (DWT) is used with the two approaches separately for embedding process to cover image transformation. Each of PSO and GA is based on co-relation coefficient to detect the high energy coefficient watermark bit in the original image and then hide the watermark in original image. Many experiments were conducted for the two approaches with different values of PSO and GA parameters. From experiments, PSO approach got better results with PSNR equal 53, MSE equal 0.0039. Whereas GA approach got PSNR equal 50.5 and MSE equal 0.0048 when using population size equal to 100, number of iterations equal to 150 and 3×3 block. According to the results, we can note that small block size can affect the quality of image watermarking based PSO/GA because small block size can increase the search area of the watermarking image. Better PSO results were obtained when using swarm size equal to 100.

Keywords: image watermarking, genetic algorithm, particle swarm optimization, discrete wavelet transform

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Authors: Virupakshi Hiremata, Ratnakar M. Shet, Raghavendra Gunnaiah, Prashantha A.

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Muskmelon is a health-beneficial and refreshing dessert vegetable with a low shelf life. Mangalore melon, a genetic homeologue of muskmelon, has a shelf life of more than six months and is mostly used for culinary purposes. Understanding the genetics of shelf life, yield and yield-related traits and identification of markers linked to such traits is helpful in transfer of extended shelf life from Mangalore melon to the muskmelon through intra-specific hybridization. For QTL mapping, 276 F2 mapping population derived from the cross Arka Siri × SS-17 was genotyped with 40 polymorphic markers distributed across 12 chromosomes. The same population was also phenotyped for yield, shelf life and fruit quality traits. One major QTL (R2 >10) and fourteen minor QTLs (R2 <10) localized on four linkage groups, governing different traits were mapped in F2 mapping population developed from the intraspecific cross with a LOD > 5.5. The phenotypic varience explained by each locus varied from 3.63 to 10.97 %. One QTL was linked to shelf-life (qSHL-3-1), five QTLs were linked to TSS (qTSS-1-1, qTSS-3-3, qTSS-3-1, qTSS-3-2 and qTSS-1-2), two QTLs for flesh thickness (qFT-3-1, and qFT-3-2) and seven QTLs for fruit yield per vine (qFYV-3-1, qFYV-1-1, qFYV-3-1, qFYV1-1, qFYV-1-3, qFYV2-1 and qFYV6-1). QTL flanking markers may be used for marker assisted introgression of shelf life into muskmelon. Important QTL will be further fine-mapped for identifying candidate genes by QTLseq and RNAseq analysis. Fine-mapping of Important Quantitative Trait Loci (QTL) holds immense promise in elucidating the genetic basis of complex traits. Leveraging advanced techniques like QTLseq and RNA sequencing (RNA seq) is crucial for this endeavor. QTLseq combines next-generation sequencing with traditional QTL mapping, enabling precise identification of genomic regions associated with traits of interest. Through high-throughput sequencing, QTLseq provides a detailed map of genetic variations linked to phenotypic variations, facilitating targeted investigations. Moreover, RNA seq analysis offers a comprehensive view of gene expression patterns in response to specific traits or conditions. By comparing transcriptomes between contrasting phenotypes, RNA seq aids in pinpointing candidate genes underlying QTL regions. Integrating QTLseq with RNA seq allows for a multi-dimensional approach, coupling genetic variation with gene expression dynamics.

Keywords: QTL, shelf life, TSS, muskmelon and Mangalore melon

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Authors: Ousmane Youme, Jean Marie Dembele, Eugene Ezin, Christophe Cambier

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In recent years, the convolutional neural networks (CNN) architectures designed by evolution algorithms have proven to be competitive with handcrafted architectures designed by experts. However, these algorithms need a lot of computational power, which is beyond the capabilities of most researchers and engineers. To overcome this problem, we propose an evolution architecture under length constraints. It consists of two algorithms: a search length strategy to find an optimal space and a search architecture strategy based on a genetic algorithm to find the best individual in the optimal space. Our algorithms drastically reduce resource costs and also keep good performance. On the Cifar-10 dataset, our framework presents outstanding performance with an error rate of 5.12% and only 4.6 GPU a day to converge to the optimal individual -22 GPU a day less than the lowest cost automatic evolutionary algorithm in the peer competition.

Keywords: CNN architecture, genetic algorithm, evolution algorithm, length constraints

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Authors: Vivek Vaishnav, Shamim Akhtar Ansari

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Teak (Tectona grandis L.f.) belonging to plant family Lamiaceae and the most commercialized timber species is endemic to South-Asia. The adaptive fitness of the species metapopulation was evaluated through its genetic differentiation and assessing the influence of geo-climatic conditions. 290 genotypes were sampled from 29 locations of its natural distribution and the genetic data was incorporated with geo-climatic parameters. Through Bayesian approach based analysis of 43 highly polymorphic ISSR markers, six homogeneous clusters (0.8% genetic variability) were identified. The six clusters were found with the various regimes of the temperature range, i.e., I - 9.10±1.35⁰C, II -6.35±0.21⁰C, III -12.21±0.43⁰C, IV - 10.8±1.06⁰C, V - 11.67±3.04⁰C, and VI - 12.35±0.21⁰C. The population had a very high percentage of LD (21.48%) among the amplified loci possibly due to experiencing restricted gene flow as well as co-adaptation and association of distant/diverse loci/alleles as a result of the stabilized climatic conditions and countless cycles of historical recombination events on a large geological timescale. The same possibly accounts for the narrow distribution of teak as a climax species in the tropical deciduous forests of the country. The regions of strong LD in teak genome significantly associated with climatic parameters also reflect that the species is tolerant to the wide regimes of the temperature range and may possibly withstand global warming and climate change in the coming millennium.

Keywords: Bayesian analysis, inter simple sequence repeat, linkage disequilibrium, marker-geoclimatic association

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Authors: Arash Rahmani, Ahmad Ghanbari, Abbas Baghernezhad, Babak Safaei

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In the design of parallel manipulators, usually mean value of a dexterity measure over the workspace volume is considered as the objective function to be used in optimization algorithms. The mentioned indexes in a hybrid parallel manipulator (HPM) are quite complicated to solve thanks to infinite solutions for every point within the workspace of the redundant manipulators. In this paper, spatial isotropic design axioms are extended as a well-known method for optimum design of manipulators. An upper limit for the isotropy measure of HPM is calculated and instead of computing and minimizing isotropy measure, minimizing the obtained limit is considered. To this end, two different objective functions are suggested which are obtained from objective functions of comprising modules. Finally, by using genetic algorithm (GA), the best geometric parameters for a specific hybrid parallel robot which is composed of two modified Gough-Stewart platforms (MGSP) are achieved.

Keywords: hybrid manipulator, spatial isotropy, genetic algorithm, optimum design

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