Search results for: genetic identification
3999 Management and Genetic Characterization of Local Sheep Breeds for Better Productive and Adaptive Traits
Authors: Sonia Bedhiaf-Romdhani
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The sheep (Ovis aries) was domesticated, approximately 11,000 years ago (YBP), in the Fertile Crescent from Asian Mouflon (Ovis Orientalis). The Northern African (NA) sheep is 7,000 years old, represents a remarkable diversity of sheep populations reared under traditional and low input farming systems (LIFS) over millennia. The majority of small ruminants in developing countries are encountered in low input production systems and the resilience of local communities in rural areas is often linked to the wellbeing of small ruminants. Regardless of the rich biodiversity encountered in sheep ecotypes there are four main sheep breeds in the country with 61,6 and 35.4 percents of Barbarine (fat tail breed) and Queue Fine de l’Ouest (thin tail breed), respectively. Phoenicians introduced the Barbarine sheep from the steppes of Central Asia in the Carthaginian period, 3000 years ago. The Queue Fine de l’Ouest is a thin-tailed meat breed heavily concentrated in the Western and the central semi-arid regions. The Noire de Thibar breed, involving mutton-fine wool producing animals, has been on the verge of extinction, it’s a composite black coated sheep breed found in the northern sub-humid region because of its higher nutritional requirements and non-tolerance of the prevailing harsher condition. The D'Man breed, originated from Morocco, is mainly located in the southern oases of the extreme arid ecosystem. A genetic investigation of Tunisian sheep breeds using a genome-wide scan of approximately 50,000 SNPs was performed. Genetic analysis of relationship between breeds highlighted the genetic differentiation of Noire de Thibar breed from the other local breeds, reflecting the effect of past events of introgression of European gene pool. The Queue Fine de l’Ouest breed showed a genetic heterogeneity and was close to Barbarine. The D'Man breed shared a considerable gene flow with the thin-tailed Queue Fine de l'Ouest breed. Native small ruminants breeds, are capable to be efficiently productive if essential ingredients and coherent breeding schemes are implemented and followed. Assessing the status of genetic variability of native sheep breeds could provide important clues for research and policy makers to devise better strategies for the conservation and management of genetic resources.Keywords: sheep, farming systems, diversity, SNPs.
Procedia PDF Downloads 1473998 Whole Exome Sequencing Data Analysis of Rare Diseases: Non-Coding Variants and Copy Number Variations
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
Procedia PDF Downloads 4193997 Genetic Improvement Potential for Wood Production in Melaleuca cajuputi
Authors: Hong Nguyen Thi Hai, Ryota Konda, Dat Kieu Tuan, Cao Tran Thanh, Khang Phung Van, Hau Tran Tin, Harry Wu
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Melaleuca cajuputi is a moderately fast-growing species and considered as a multi-purpose tree as it provides fuelwood, piles and frame poles in construction, leaf essential oil and honey. It occurs in Australia, Papua New Guinea, and South-East Asia. M. cajuputi plantation can be harvested on 6-7 year rotations for wood products. Its timber can also be used for pulp and paper, fiber and particle board, producing quality charcoal and potentially sawn timber. However, most reported M. cajuputi breeding programs have been focused on oil production rather than wood production. In this study, breeding program of M. cajuputi aimed to improve wood production was examined by estimating genetic parameters for growth (tree height, diameter at breast height (DBH), and volume), stem form, stiffness (modulus of elasticity (MOE)), bark thickness and bark ratio in a half-sib family progeny trial including 80 families in the Mekong Delta of Vietnam. MOE is one of the key wood properties of interest to the wood industry. Non-destructive wood stiffness was measured indirectly by acoustic velocity using FAKOPP Microsecond Timer and especially unaffected by bark mass. Narrow-sense heritability for the seven traits ranged from 0.13 to 0.27 at age 7 years. MOE and stem form had positive genetic correlations with growth while the negative correlation between bark ratio and growth was also favorable. Breeding for simultaneous improvement of multiple traits, faster growth with higher MOE and reduction of bark ratio should be possible in M. cajuputi. Index selection based on volume and MOE showed genetic gains of 31 % in volume, 6 % in MOE and 13 % in stem form. In addition, heritability and age-age genetic correlations for growth traits increased with time and optimal early selection age for growth of M. cajuputi based on DBH alone was 4 years. Selected thinning resulted in an increase of heritability due to considerable reduction of phenotypic variation but little effect on genetic variation.Keywords: acoustic velocity, age-age correlation, bark thickness, heritability, Melaleuca cajuputi, stiffness, thinning effect
Procedia PDF Downloads 1823996 Application of Biometrics in Patient Identification Card: Case Study of Saudi Arabia
Authors: Sarah Aldhalaan, Tanzila Saba
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Healthcare sectors are increasing rapidly to fulfill patient’s needs across the world. A patient identification is considered as the main aspect for a patient to be served in healthcare institutes. Nowadays, people are presenting their insurance card along with their identification card in order to get the needed treatment in hospitals however, this process lack security preferences. The aim of this research paper is to reveal a solution to introduce and use biometrics in healthcare hospitals. The findings show that the people know biometrics since they are interacting with them through different channels and that the need for biometrics techniques to identify patients is essential. Also, the survey relevant questions are used to analyze and add insights on what is are the suitable biometrics to be used in such cases. Moreover, results are presented to exhibit the effectiveness of the used methodology and in analyzing usage of biometrics in hospitals in an enhancing way. Finally, an interesting conclusion of overall work is presented at the end of paper.Keywords: biometrics, healthcare, fingerprint, Saudi Arabia
Procedia PDF Downloads 2473995 Acceleration of DNA Hybridization Using Electroosmotic Flow
Authors: Yun-Hsiang Wang, Huai-Yi Chen, Kin Fong Lei
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Deoxyribonucleic acid (DNA) hybridization is a common technique used in genetic assay widely. However, the hybridization ratio and rate are usually limited by the diffusion effect. Here, microfluidic electrode platform producing electroosmosis generated by alternating current signal has been proposed to enhance the hybridization ratio and rate. The electrode was made of aurum fabricated by microfabrication technique. Thiol-modified oligo probe was immobilized on the electrode for specific capture of target, which is modified by fluorescent tag. Alternative electroosmosis can induce local microfluidic vortexes to accelerate DNA hybridization. This study provides a strategy to enhance the rate of DNA hybridization in the genetic assay.Keywords: DNA hybridization, electroosmosis, electrical enhancement, hybridization ratio
Procedia PDF Downloads 3833994 Twenty-Five Polymorphic Microsatellite Loci Used To Genotype Some Camel Types and Subtypes From Sudan, Qatar, Chad, And Somalia
Authors: Wathig Hashim Mohamed Ibrahim
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Twenty Five polymorphic microsatellite out of 50 Loci were used to genotype some camel (Camelus dromedarius) types and subtypes in Sudan (Naylawi, Shanapla, Lahawi, Kinani, Rashaydi, Bani-Aamir, Annafi, Bishari Shallagyai and Bishari Arririt) and that from Qatar (OmmaniHJ, OmmaniKH, Majaheem, Pakistani Sindi, Pakistani Punjabi and Pakistani) and for comparative; one type from Somalia (Aarhou) and another from Chad (Spotted) were investigated. The highest number of alleles were 23 in Locus CVRL 01, and lowest were 2 in YWLL 59. The observed heterozygosity (Hobs) were 0.950 and 0.049 for VOLP08 and YWLL09, respectively, while the expected heterozygosity (HExp) were 0.915 and 0.362 for Locus VOLP67 and YWLL58, respectively, and the HExp mean was 0.7378. Polymorphic Information Content (PIC) ranged between 0.907 - 0.345 in Locus VOLP67 and YWLL58, and the PIC mean was 0.7002. The genetic distance ranged between 0.545 – 0.098 for Shallagyai (Bishari subtype) – Pakistani Sindi subtype and between Annafi - Rashaydi, respectively. The genetic distance between spotted and all types ranged between 0.223 with Arririt (Bishari subtype) and 0.463 with Punjabi (Pakistani subtype) that found in Qatar, while all types with Aarhou ranged between 0.215 for Arririt and 0.469 with Punjabi (Pakistani subtype). The dondrogram shows that there is a relationship between the genetic makeup and geographical distributions and also between the genetic makeup and phenotypic characteristic. Individual assignment was calculated, 46.62% correctly assigned and 46.87% quality index. Hardy Weinberg Equivalent (HWE) was also calculated. Key words: Camel, genotype, polymorphic microsatelliteKeywords: camel, genotype, polymorphic microsatellite, types and subtypes
Procedia PDF Downloads 823993 Genetic Association of SIX6 Gene with Pathogenesis of Glaucoma
Authors: Riffat Iqbal, Sidra Ihsan, Andleeb Batool, Maryam Mukhtar
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Glaucoma is a gathering of optic neuropathies described by dynamic degeneration of retinal ganglionic cells. It is clinically and innately heterogenous illness containing a couple of particular forms each with various causes and severities. Primary open-angle glaucoma (POAG) is the most generally perceived kind of glaucoma. This study investigated the genetic association of single nucleotide polymorphisms (SNPs; rs10483727 and rs33912345) at the SIX1/SIX6 locus with primary open-angle glaucoma (POAG) in the Pakistani population. The SIX6 gene plays an important role in ocular development and has been associated with morphology of the optic nerve. A total of 100 patients clinically diagnosed with glaucoma and 100 control individuals of age over 40 were enrolled in the study. Genomic DNA was extracted by organic extraction method. The SNP genotyping was done by (i) PCR based restriction fragment length polymorphism (RFLP) and sequencing method. Significant genetic associations were observed for rs10483727 (risk allele T) and rs33912345 (risk allele C) with POAG. Hence, it was concluded that Six6 gene is genetically associated with pathogenesis of Glaucoma in Pakistan.Keywords: genotyping, Pakistani population, primary open-angle glaucoma, SIX6 gene
Procedia PDF Downloads 1863992 Phylogenetic Studies of Six Egyptian Sheep Breeds Using Cytochrome B
Authors: Othman Elmahdy Othman, Agnés Germot, Daniel Petit, Muhammad Khodary, Abderrahman Maftah
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Recently, the control (D-loop) and cytochrome b (Cyt b) regions of mtDNA have received more attention due to their role in the genetic diversity and phylogenetic studies in different livestock which give important knowledge towards the genetic resource conservation. Studies based on sequencing of sheep mitochondrial DNA showed that there are five maternal lineages in the world for domestic sheep breeds; A, B, C, D and E. By using cytochrome B sequencing, we aimed to clarify the genetic affinities and phylogeny of six Egyptian sheep breeds. Blood samples were collected from 111 animals belonging to six Egyptian sheep breeds; Barki, Rahmani, Ossimi, Saidi, Sohagi and Fallahi. The total DNA was extracted and the specific primers were used for conventional PCR amplification of the cytochrome B region of mtDNA. PCR amplified products were purified and sequenced. The alignment of sequences was done using BioEdit software and DnaSP 5.00 software was used to identify the sequence variation and polymorphic sites in the aligned sequences. The result showed that the presence of 39 polymorphic sites leading to the formation of 29 haplotypes. The haplotype diversity in six tested breeds ranged from 0.643 in Rahmani breed to 0.871 in Barki breed. The lowest genetic distance was observed between Rahmani and Saidi (D: 1.436 and Dxy: 0.00127) while the highest distance was observed between Ossimi and Sohagi (D: 6.050 and Dxy: 0.00534). Neighbour-joining (Phylogeny) tree was constructed using Mega 5.0 software. The sequences of 111 analyzed samples were aligned with references sequences of different haplogroups; A, B, C, D and E. The phylogeny result showed the presence of four haplogroups; HapA, HapB, HapC and HapE in the examined samples whereas the haplogroup D was not found. The result showed that 88 out of 111 tested animals cluster with haplogroup B (79.28%), whereas 12 tested animals cluster with haplogroup A (10.81%), 10 animals cluster with haplogroup C (9.01%) and one animal belongs to haplogroup E (0.90%).Keywords: phylogeny, genetic biodiversity, MtDNA, cytochrome B, Egyptian sheep
Procedia PDF Downloads 3473991 Genetically Modified Organisms
Authors: Mudrika Singhal
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The research paper is basically about how the genetically modified organisms evolved and their significance in today’s world. It also highlights about the various pros and cons of the genetically modified organisms and the progress of India in this field. A genetically modified organism is the one whose genetic material has been altered using genetic engineering techniques. They have a wide range of uses such as transgenic plants, genetically modified mammals such as mouse and also in insects and aquatic life. Their use is rooted back to the time around 12,000 B.C. when humans domesticated plants and animals. At that humans used genetically modified organisms produced by the procedure of selective breeding and not by genetic engineering techniques. Selective breeding is the procedure in which selective traits are bred in plants and animals and then are domesticated. Domestication of wild plants into a suitable cultigen is a well known example of this technique. GMOs have uses in varied fields ranging from biological and medical research, production of pharmaceutical drugs to agricultural fields. The first organisms to be genetically modified were the microbes because of their simpler genetics. At present the genetically modified protein insulin is used to treat diabetes. In the case of plants transgenic plants, genetically modified crops and cisgenic plants are the examples of genetic modification. In the case of mammals, transgenic animals such as mice, rats etc. serve various purposes such as researching human diseases, improvement in animal health etc. Now coming upon the pros and cons related to the genetically modified organisms, pros include crops with higher yield, less growth time and more predictable in comparison to traditional breeding. Cons include that they are dangerous to mammals such as rats, these products contain protein which would trigger allergic reactions. In India presently, group of GMOs include GM microorganisms, transgenic crops and animals. There are varied applications in the field of healthcare and agriculture. In the nutshell, the research paper is about the progress in the field of genetic modification, taking along the effects in today’s world.Keywords: applications, mammals, transgenic, engineering and technology
Procedia PDF Downloads 5983990 Relay Node Placement for Connectivity Restoration in Wireless Sensor Networks Using Genetic Algorithms
Authors: Hanieh Tarbiat Khosrowshahi, Mojtaba Shakeri
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Wireless Sensor Networks (WSNs) consist of a set of sensor nodes with limited capability. WSNs may suffer from multiple node failures when they are exposed to harsh environments such as military zones or disaster locations and lose connectivity by getting partitioned into disjoint segments. Relay nodes (RNs) are alternatively introduced to restore connectivity. They cost more than sensors as they benefit from mobility, more power and more transmission range, enforcing a minimum number of them to be used. This paper addresses the problem of RN placement in a multiple disjoint network by developing a genetic algorithm (GA). The problem is reintroduced as the Steiner tree problem (which is known to be an NP-hard problem) by the aim of finding the minimum number of Steiner points where RNs are to be placed for restoring connectivity. An upper bound to the number of RNs is first computed to set up the length of initial chromosomes. The GA algorithm then iteratively reduces the number of RNs and determines their location at the same time. Experimental results indicate that the proposed GA is capable of establishing network connectivity using a reasonable number of RNs compared to the best existing work.Keywords: connectivity restoration, genetic algorithms, multiple-node failure, relay nodes, wireless sensor networks
Procedia PDF Downloads 2433989 A Deep Learning Approach to Subsection Identification in Electronic Health Records
Authors: Nitin Shravan, Sudarsun Santhiappan, B. Sivaselvan
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Subsection identification, in the context of Electronic Health Records (EHRs), is identifying the important sections for down-stream tasks like auto-coding. In this work, we classify the text present in EHRs according to their information, using machine learning and deep learning techniques. We initially describe briefly about the problem and formulate it as a text classification problem. Then, we discuss upon the methods from the literature. We try two approaches - traditional feature extraction based machine learning methods and deep learning methods. Through experiments on a private dataset, we establish that the deep learning methods perform better than the feature extraction based Machine Learning Models.Keywords: deep learning, machine learning, semantic clinical classification, subsection identification, text classification
Procedia PDF Downloads 2203988 Prevalence and Genetic Determinant of Drug Resistant Tuberculosis among Patients Completing Intensive Phase of Treatment in a Tertiary Referral Center in Nigeria
Authors: Aminu Bashir Mohammad, Agwu Ezera, Abdulrazaq G. Habib, Garba Iliyasu
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Background: Drug resistance tuberculosis (DR-TB) continues to be a challenge in developing countries with poor resources. Routine screening for primary DR-TB before commencing treatment is not done in public hospitals in Nigeria, even with the large body of evidence that shows a high prevalence of primary DR-TB. Data on drug resistance and its genetic determinant among follow up TB patients is lacking in Nigeria. Hence the aim of this study was to determine the prevalence and genetic determinant of drug resistance among follow up TB patients in a tertiary hospital in Nigeria. Methods: This was a cross-sectional laboratory-based study conducted on 384 sputum samples collected from consented follow-up tuberculosis patients. Standard microbiology methods (Zeil-Nielsen staining and microscopy) and PCR (Line Probe Assay)] were used to analyze the samples collected. Person’s Chi-square was used to analyze the data generated. Results: Out of three hundred and eighty-four (384) sputum samples analyzed for mycobacterium tuberculosis (MTB) and DR-TB twenty-five 25 (6.5%) were found to be AFB positive. These samples were subjected to PCR (Line Probe Assay) out of which 18(72%) tested positive for DR-TB. Mutations conferring resistance to rifampicin (rpo B) and isoniazid (katG, and or inhA) were detected in 12/18(66.7%) and 6/18(33.3%), respectively. Transmission dynamic of DR-TB was not significantly (p>0.05) dependent on demographic characteristics. Conclusion: There is a need to strengthened the laboratory capacity for diagnosis of TB and drug resistance testing and make these services available, affordable, and accessible to the patients who need them.Keywords: drug resistance tuberculosis, genetic determinant, intensive phase, Nigeria
Procedia PDF Downloads 2883987 Hyper-Immunoglobulin E (Hyper-Ige) Syndrome In Skin Of Color: A Retrospective Single-Centre Observational Study
Authors: Rohit Kothari, Muneer Mohamed, Vivekanandh K., Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar
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Introduction: Hyper-IgE syndrome is a rare primary immunodeficiency syndrome characterised by triad of severe atopic dermatitis, recurrent pulmonary infections, and recurrent staphylococcal skin infections. The diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum-IgE levels, which may be seen in multiple conditions. Genetic studies are not always possible in a resource poor setting. This study highlights various presentations of Hyper-IgE syndrome in skin of color children. Case-series: Our study had six children of Hyper-IgE syndrome aged twomonths to tenyears. All had onset in first ten months of life except one with a late-onset at two years. All had recurrent eczematoid rash, which responded poorly to conventional treatment, secondary infection, multiple episodes of hospitalisation for pulmonary infection, and raised serum IgE levels. One case had occasional vesicles, bullae, and crusted plaques over both the extremities. Genetic study was possible in only one of them who was found to have pathogenic homozygous deletions of exon-15 to 18 in DOCK8 gene following which he underwent bone marrow transplant (BMT), however, succumbed to lower respiratory tract infection two months after BMT and rest of them received multiple courses of antibiotics, oral/ topical steroids, and cyclosporine intermittently with variable response. Discussion: Our study highlights various characteristics, presentation, and management of this rare syndrome in children. Knowledge of these manifestations in skin of color will facilitate early identification and contribute to optimal care of the patients as representative data on the same is limited in literature.Keywords: absolute eosinophil count, atopic dermatitis, eczematous rash, hyper-immunoglobulin E syndrome, pulmonary infection, serum IgE, skin of color
Procedia PDF Downloads 1393986 Optimal Sensing Technique for Estimating Stress Distribution of 2-D Steel Frame Structure Using Genetic Algorithm
Authors: Jun Su Park, Byung Kwan Oh, Jin Woo Hwang, Yousok Kim, Hyo Seon Park
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For the structural safety, the maximum stress calculated from the stress distribution of a structure is widely used. The stress distribution can be estimated by deformed shape of the structure obtained from measurement. Although the estimation of stress is strongly affected by the location and number of sensing points, most studies have conducted the stress estimation without reasonable basis on sensing plan such as the location and number of sensors. In this paper, an optimal sensing technique for estimating the stress distribution is proposed. This technique proposes the optimal location and number of sensing points for a 2-D frame structure while minimizing the error of stress distribution between analytical model and estimation by cubic smoothing splines using genetic algorithm. To verify the proposed method, the optimal sensor measurement technique is applied to simulation tests on 2-D steel frame structure. The simulation tests are performed under various loading scenarios. Through those tests, the optimal sensing plan for the structure is suggested and verified.Keywords: genetic algorithm, optimal sensing, optimizing sensor placements, steel frame structure
Procedia PDF Downloads 5333985 Exploring Factors That May Contribute to the Underdiagnosis of Hereditary Transthyretin Amyloidosis in African American Patients
Authors: Kelsi Hagerty, Ami Rosen, Aaliyah Heyward, Nadia Ali, Emily Brown, Erin Demo, Yue Guan, Modele Ogunniyi, Brianna McDaniels, Alanna Morris, Kunal Bhatt
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Hereditary transthyretin amyloidosis (hATTR) is a progressive, multi-systemic, and life-threatening disease caused by a disruption in the TTR protein that delivers thyroxine and retinol to the liver. This disruption causes the protein to misfold into amyloid fibrils, leading to the accumulation of the amyloid fibrils in the heart, nerves, and GI tract. Over 130 variants in the TTR gene are known to cause hATTR. The Val122Ile variant is the most common in the United States and is seen almost exclusively in people of African descent. TTR variants are inherited in an autosomal dominant fashion and have incomplete penetrance and variable expressivity. Individuals with hATTR may exhibit symptoms from as early as 30 years to as late as 80 years of age. hATTR is characterized by a wide range of clinical symptoms such as cardiomyopathy, neuropathy, carpal tunnel syndrome, and GI complications. Without treatment, hATTR leads to progressive disease and can ultimately lead to heart failure. hATTR disproportionately affects individuals of African descent; the estimated prevalence of hATTR among Black individuals in the US is 3.4%. Unfortunately, hATTR is often underdiagnosed and misdiagnosed because many symptoms of the disease overlap with other cardiac conditions. Due to the progressive nature of the disease, multi-systemic manifestations that can lead to a shortened lifespan, and the availability of free genetic testing and promising FDA-approved therapies that enhance treatability, early identification of individuals with a pathogenic hATTR variant is important, as this can significantly impact medical management for patients and their relatives. Furthermore, recent literature suggests that TTR genetic testing should be performed in all patients with suspicion of TTR-related cardiomyopathy, regardless of age, and that follow-up with genetic counseling services is recommended. Relatives of patients with hATTR benefit from genetic testing because testing can identify carriers early and allow relatives to receive regular screening and management. Despite the striking prevalence of hATTR among Black individuals, hATTR remains underdiagnosed in this patient population, and germline genetic testing for hATTR in Black individuals seems to be underrepresented, though the reasons for this have not yet been brought to light. Historically, Black patients experience a number of barriers to seeking healthcare that has been hypothesized to perpetuate the underdiagnosis of hATTR, such as lack of access and mistrust of healthcare professionals. Prior research has described a myriad of factors that shape an individual’s decision about whether to pursue presymptomatic genetic testing for a familial pathogenic variant, such as family closeness and communication, family dynamics, and a desire to inform other family members about potential health risks. This study explores these factors through 10 in-depth interviews with patients with hATTR about what factors may be contributing to the underdiagnosis of hATTR in the Black population. Participants were selected from the Emory University Amyloidosis clinic based on having a molecular diagnosis of hATTR. Interviews were recorded and transcribed verbatim, then coded using MAXQDA software. Thematic analysis was completed to draw commonalities between participants. Upon preliminary analysis, several themes have emerged. Barriers identified include i) Misdiagnosis and a prolonged diagnostic odyssey, ii) Family communication and dynamics surrounding health issues, iii) Perceptions of healthcare and one’s own health risks, and iv) The need for more intimate provider-patient relationships and communication. Overall, this study gleaned valuable insight from members of the Black community about possible factors contributing to the underdiagnosis of hATTR, as well as potential solutions to go about resolving this issue.Keywords: cardiac amyloidosis, heart failure, TTR, genetic testing
Procedia PDF Downloads 993984 Efficient Neural and Fuzzy Models for the Identification of Dynamical Systems
Authors: Aouiche Abdelaziz, Soudani Mouhamed Salah, Aouiche El Moundhe
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The present paper addresses the utilization of Artificial Neural Networks (ANNs) and Fuzzy Inference Systems (FISs) for the identification and control of dynamical systems with some degree of uncertainty. Because ANNs and FISs have an inherent ability to approximate functions and to adapt to changes in input and parameters, they can be used to control systems too complex for linear controllers. In this work, we show how ANNs and FISs can be put in order to form nets that can learn from external data. In sequence, it is presented structures of inputs that can be used along with ANNs and FISs to model non-linear systems. Four systems were used to test the identification and control of the structures proposed. The results show the ANNs and FISs (Back Propagation Algorithm) used were efficient in modeling and controlling the non-linear plants.Keywords: non-linear systems, fuzzy set Models, neural network, control law
Procedia PDF Downloads 2133983 Identification of Vehicle Dynamic Parameters by Using Optimized Exciting Trajectory on 3- DOF Parallel Manipulator
Authors: Di Yao, Gunther Prokop, Kay Buttner
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Dynamic parameters, including the center of gravity, mass and inertia moments of vehicle, play an essential role in vehicle simulation, collision test and real-time control of vehicle active systems. To identify the important vehicle dynamic parameters, a systematic parameter identification procedure is studied in this work. In the first step of the procedure, a conceptual parallel manipulator (virtual test rig), which possesses three rotational degrees-of-freedom, is firstly proposed. To realize kinematic characteristics of the conceptual parallel manipulator, the kinematic analysis consists of inverse kinematic and singularity architecture is carried out. Based on the Euler's rotation equations for rigid body dynamics, the dynamic model of parallel manipulator and derivation of measurement matrix for parameter identification are presented subsequently. In order to reduce the sensitivity of parameter identification to measurement noise and other unexpected disturbances, a parameter optimization process of searching for optimal exciting trajectory of parallel manipulator is conducted in the following section. For this purpose, the 321-Euler-angles defined by parameterized finite-Fourier-series are primarily used to describe the general exciting trajectory of parallel manipulator. To minimize the condition number of measurement matrix for achieving better parameter identification accuracy, the unknown coefficients of parameterized finite-Fourier-series are estimated by employing an iterative algorithm based on MATLAB®. Meanwhile, the iterative algorithm will ensure the parallel manipulator still keeps in an achievable working status during the execution of optimal exciting trajectory. It is showed that the proposed procedure and methods in this work can effectively identify the vehicle dynamic parameters and could be an important application of parallel manipulator in the fields of parameter identification and test rig development.Keywords: parameter identification, parallel manipulator, singularity architecture, dynamic modelling, exciting trajectory
Procedia PDF Downloads 2673982 Smart Unmanned Parking System Based on Radio Frequency Identification Technology
Authors: Yu Qin
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In order to tackle the ever-growing problem of the lack of parking space, this paper presents the design and implementation of a smart unmanned parking system that is based on RFID (radio frequency identification) technology and Wireless communication technology. This system uses RFID technology to achieve the identification function (transmitted by 2.4 G wireless module) and is equipped with an STM32L053 micro controller as the main control chip of the smart vehicle. This chip can accomplish automatic parking (in/out), charging and other functions. On this basis, it can also help users easily query the information that is stored in the database through the Internet. Experimental tests have shown that the system has the features of low power consumption and stable operation, among others. It can effectively improve the level of automation control of the parking lot management system and has enormous application prospects.Keywords: RFID, embedded system, unmanned, parking management
Procedia PDF Downloads 3343981 Ordinary Differentiation Equations (ODE) Reconstruction of High-Dimensional Genetic Networks through Game Theory with Application to Dissecting Tree Salt Tolerance
Authors: Libo Jiang, Huan Li, Rongling Wu
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Ordinary differentiation equations (ODE) have proven to be powerful for reconstructing precise and informative gene regulatory networks (GRNs) from dynamic gene expression data. However, joint modeling and analysis of all genes, essential for the systematical characterization of genetic interactions, are challenging due to high dimensionality and a complex pattern of genetic regulation including activation, repression, and antitermination. Here, we address these challenges by unifying variable selection and game theory through ODE. Each gene within a GRN is co-expressed with its partner genes in a way like a game of multiple players, each of which tends to choose an optimal strategy to maximize its “fitness” across the whole network. Based on this unifying theory, we designed and conducted a real experiment to infer salt tolerance-related GRNs for Euphrates poplar, a hero tree that can grow in the saline desert. The pattern and magnitude of interactions between several hub genes within these GRNs were found to determine the capacity of Euphrates poplar to resist to saline stress.Keywords: gene regulatory network, ordinary differential equation, game theory, LASSO, saline resistance
Procedia PDF Downloads 6403980 An Improved GA to Address Integrated Formulation of Project Scheduling and Material Ordering with Discount Options
Authors: Babak H. Tabrizi, Seyed Farid Ghaderi
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Concurrent planning of the resource constraint project scheduling and material ordering problems have received significant attention within the last decades. Hence, the issue has been investigated here with the aim to minimize total project costs. Furthermore, the presented model considers different discount options in order to approach the real world conditions. The incorporated alternatives consist of all-unit and incremental discount strategies. On the other hand, a modified version of the genetic algorithm is applied in order to solve the model for larger sizes, in particular. Finally, the applicability and efficiency of the given model is tested by different numerical instances.Keywords: genetic algorithm, material ordering, project management, project scheduling
Procedia PDF Downloads 3033979 Comparison of Deep Convolutional Neural Networks Models for Plant Disease Identification
Authors: Megha Gupta, Nupur Prakash
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Identification of plant diseases has been performed using machine learning and deep learning models on the datasets containing images of healthy and diseased plant leaves. The current study carries out an evaluation of some of the deep learning models based on convolutional neural network (CNN) architectures for identification of plant diseases. For this purpose, the publicly available New Plant Diseases Dataset, an augmented version of PlantVillage dataset, available on Kaggle platform, containing 87,900 images has been used. The dataset contained images of 26 diseases of 14 different plants and images of 12 healthy plants. The CNN models selected for the study presented in this paper are AlexNet, ZFNet, VGGNet (four models), GoogLeNet, and ResNet (three models). The selected models are trained using PyTorch, an open-source machine learning library, on Google Colaboratory. A comparative study has been carried out to analyze the high degree of accuracy achieved using these models. The highest test accuracy and F1-score of 99.59% and 0.996, respectively, were achieved by using GoogLeNet with Mini-batch momentum based gradient descent learning algorithm.Keywords: comparative analysis, convolutional neural networks, deep learning, plant disease identification
Procedia PDF Downloads 2003978 Integrating a Universal Forensic DNA Database: Anticipated Deterrent Effects
Authors: Karen Fang
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Investigative genetic genealogy has attracted much interest in both the field of ethics and the public eye due to its global application in criminal cases. Arguments have been made regarding privacy and informed consent, especially with law enforcement using consumer genetic testing results to convict individuals. In the case of public interest, DNA databases have the strong potential to significantly reduce crime, which in turn leads to safer communities and better futures. With the advancement of genetic technologies, the integration of a universal forensic DNA database in violent crimes, crimes against children, and missing person cases is expected to deter crime while protecting one’s privacy. Rather than collecting whole genomes from the whole population, STR profiles can be used to identify unrelated individuals without compromising personal information such as physical appearance, disease risk, and geographical origin, and additionally, reduce cost and storage space. STR DNA profiling is already used in the forensic science field and going a step further benefits several areas, including the reduction in recidivism, improved criminal court case turnaround time, and just punishment. Furthermore, adding individuals to the database as early as possible prevents young offenders and first-time offenders from participating in criminal activity. It is important to highlight that DNA databases should be inclusive and tightly governed, and the misconception on the use of DNA based on crime television series and other media sources should be addressed. Nonetheless, deterrent effects have been observed in countries like the US and Denmark with DNA databases that consist of serious violent offenders. Fewer crimes were reported, and fewer people were convicted of those crimes- a favorable outcome, not even the death penalty could provide. Currently, there is no better alternative than a universal forensic DNA database made up of STR profiles. It can open doors for investigative genetic genealogy and fostering better communities. Expanding the appropriate use of DNA databases is ethically acceptable and positively impacts the public.Keywords: bioethics, deterrent effects, DNA database, investigative genetic genealogy, privacy, public interest
Procedia PDF Downloads 1503977 The Cases Studies of Eyewitness Misidentifications during Criminal Investigation in Taiwan
Authors: Chih Hung Shih
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Eyewitness identification is one of the efficient information to identify suspects during criminal investigation. However eyewitness identification is improved frequently, inaccurate and plays vital roles in wrongful convictions. Most eyewitness misidentifications are made during police criminal investigation stage and then accepted by juries. Four failure investigation case studies in Taiwan are conduct to demonstrate how misidentifications are caused during the police investigation context. The result shows that there are several common grounds among these cases: (1) investigators lacked for knowledge about eyewitness memory so that they couldn’t evaluate the validity of the eyewitnesses’ accounts and identifications, (2) eyewitnesses were always asked to filter out several suspects during the investigation, and received investigation information which contaminated the eyewitnesses’ memory, (3) one to one live individual identifications were made in most of cases, (4) eyewitness identifications were always used to support the hypotheses of investigators, and exaggerated theirs powers when conform with the investigation lines, (5) the eyewitnesses’ confidence didn’t t reflect the validity of their identifications , but always influence the investigators’ beliefs for the identifications, (6) the investigators overestimated the power of the eyewitness identifications and ignore the inconsistency with other evidence. Recommendations have been proposed for future academic research and police practice of eyewitness identification in Taiwan.Keywords: criminal investigation, eyewitness identification, investigative bias, investigative failures
Procedia PDF Downloads 2463976 Automatic Product Identification Based on Deep-Learning Theory in an Assembly Line
Authors: Fidel Lòpez Saca, Carlos Avilés-Cruz, Miguel Magos-Rivera, José Antonio Lara-Chávez
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Automated object recognition and identification systems are widely used throughout the world, particularly in assembly lines, where they perform quality control and automatic part selection tasks. This article presents the design and implementation of an object recognition system in an assembly line. The proposed shapes-color recognition system is based on deep learning theory in a specially designed convolutional network architecture. The used methodology involve stages such as: image capturing, color filtering, location of object mass centers, horizontal and vertical object boundaries, and object clipping. Once the objects are cut out, they are sent to a convolutional neural network, which automatically identifies the type of figure. The identification system works in real-time. The implementation was done on a Raspberry Pi 3 system and on a Jetson-Nano device. The proposal is used in an assembly course of bachelor’s degree in industrial engineering. The results presented include studying the efficiency of the recognition and processing time.Keywords: deep-learning, image classification, image identification, industrial engineering.
Procedia PDF Downloads 1623975 Molecular Characterization of Ovine Herpesvirus 2 Strains Based on Selected Glycoprotein and Tegument Genes
Authors: Fulufhelo Amanda Doboro, Kgomotso Sebeko, Stephen Njiro, Moritz Van Vuuren
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Ovine herpesvirus 2 (OvHV-2) genome obtained from the lymphopblastoid cell line of a BJ1035 cow was recently sequenced in the United States of America (USA). Information on the sequences of OvHV-2 genes obtained from South African strains from bovine or other African countries and molecular characterization of OvHV-2 is not documented. Present investigation provides information on the nucleotide and derived amino acid sequences and genetic diversity of Ov 7, Ov 8 ex2, ORF 27 and ORF 73 genes, of these genes from OvHV-2 strains circulating in South Africa. Gene-specific primers were designed and used for PCR of DNA extracted from 42 bovine blood samples that previously tested positive for OvHV-2. The expected PCR products of 495 bp, 253 bp, 890 bp and 1632 bp respectively for Ov 7, Ov 8 ex2, ORF 27 and ORF 73 genes were sequenced and multiple sequence analysis done on the selected regions of the sequenced PCR products. Two genotypes for ORF 27 and ORF 73 gene sequences, and three genotypes for Ov 7 and Ov 8 ex2 gene sequences were identified, and similar groupings for the derived amino acid sequences were obtained for each gene. Nucleotide and amino acid sequence variations that led to the identification of the different genotypes included SNPs, deletions and insertions. Sequence analysis of Ov 7 and ORF 27 genes revealed variations that distinguished between sequences from SA and reference OvHV-2 strains. The implication of geographic origin among SA sequences was difficult to evaluate because of random distribution of genotypes in the different provinces, for each gene. However, socio-economic factors such as migration of people with animals, or transportation of animals for agricultural or business use from one province to another are most likely to be responsible for this observation. The sequence variations observed in this study have no impact on the antibody binding activities of glycoproteins encoded by Ov 7, Ov 8 ex2 and ORF 27 genes, as determined by prediction of the presence of B cell epitopes using BepiPred 1.0. The findings of this study will be used for selection of gene candidates for the development of diagnostic assays and vaccine development as well.Keywords: amino acid, genetic diversity, genes, nucleotide
Procedia PDF Downloads 4923974 EDM for Prediction of Academic Trends and Patterns
Authors: Trupti Diwan
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Predicting student failure at school has changed into a difficult challenge due to both the large number of factors that can affect the reduced performance of students and the imbalanced nature of these kinds of data sets. This paper surveys the two elements needed to make prediction on Students’ Academic Performances which are parameters and methods. This paper also proposes a framework for predicting the performance of engineering students. Genetic programming can be used to predict student failure/success. Ranking algorithm is used to rank students according to their credit points. The framework can be used as a basis for the system implementation & prediction of students’ Academic Performance in Higher Learning Institute.Keywords: classification, educational data mining, student failure, grammar-based genetic programming
Procedia PDF Downloads 4233973 Evolutionary Analysis of Influenza A (H1N1) Pdm 09 in Post Pandemic Period in Pakistan
Authors: Nazish Badar
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In early 2009, Pandemic type A (H1N1) Influenza virus emerged globally. Since then, it has continued circulation causing considerable morbidity and mortality. The purpose of this study was to evaluate the evolutionary changes in Influenza A (H1N1) pdm09 viruses from 2009-15 and their relevance with the current vaccine viruses. Methods: Respiratory specimens were collected with influenza-like illness and Severe Acute Respiratory Illness. Samples were processed according to CDC protocol. Sequencing and phylogenetic analysis of Haemagglutinin (HA) and neuraminidase (NA) genes was carried out comparing representative isolates from Pakistan viruses. Results: Between Jan2009 - Feb 2016, 1870 (13.2%) samples were positive for influenza A out of 14086. During the pandemic period (2009–10), Influenza A/ H1N1pdm 09 was the dominant strain with 366 (45%) of total influenza positives. In the post-pandemic period (2011–2016), a total of 1066 (59.6%) cases were positive Influenza A/ H1N1pdm 09 with co-circulation of different Influenza A subtypes. Overall, the Pakistan A(H1N1) pdm09 viruses grouped in two genetic clades. Influenza A(H1N1)pdm09 viruses only ascribed to Clade 7 during the pandemic period whereas viruses belong to clade 7 (2011) and clade 6B (2015) during the post-pandemic years. Amino acid analysis of the HA gene revealed mutations at positions S220T, I338V and P100S specially associated with outbreaks in all the analyzed strains. Sequence analyses of post-pandemic A(H1N1)pdm09 viruses showed additional substitutions at antigenic sites; S179N,K180Q (SA), D185N, D239G (CA), S202A (SB) and at receptor binding sites; A13T, S200P when compared with pandemic period. Substitution at Genetic markers; A273T (69%), S200P/T (15%) and D239G (7.6%) associated with severity and E391K (69%) associated with virulence was identified in viruses isolated during 2015. Analysis of NA gene revealed outbreak markers; V106I (23%) among pandemic and N248D (100%) during post-pandemic Pakistan viruses. Additional N-Glycosylation site; HA S179N (23%), NA I23T(7.6%) and N44S (77%) in place of N386K(77%) were only found in post-pandemic viruses. All isolates showed histidine (H) at position 275 in NA indicating sensitivity to neuraminidase inhibitors. Conclusion: This study shows that the Influenza A(H1N1)pdm09 viruses from Pakistan clustered into two genetic clades, with co-circulation of some variants. Certain key substitutions in the receptor binding site and few changes indicative of virulence were also detected in post-pandemic strains. Therefore, it is imperative to continue monitoring of the viruses for early identification of potential variants of high virulence or emergence of drug-resistant variants.Keywords: Influenza A (H1N1) pdm09, evolutionary analysis, post pandemic period, Pakistan
Procedia PDF Downloads 2083972 Physicians’ Knowledge and Perception of Gene Profiling in Malaysia: A Pilot Study
Authors: Farahnaz Amini, Woo Yun Kin, Lazwani Kolandaiveloo
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Availability of different genetic tests after completion of Human Genome Project increases the physicians’ responsibility to keep themselves update on the potential implementation of these genetic tests in their daily practice. However, due to numbers of barriers, still many of physicians are not either aware of these tests or are not willing to offer or refer their patients for genetic tests. This study was conducted an anonymous, cross-sectional, mailed-based survey to develop a primary data of Malaysian physicians’ level of knowledge and perception of gene profiling. Questionnaire had 29 questions. Total scores on selected questions were used to assess the level of knowledge. The highest possible score was 11. Descriptive statistics, one way ANOVA and chi-squared test was used for statistical analysis. Sixty three completed questionnaires was returned by 27 general practitioners (GPs) and 36 medical specialists. Responders’ age range from 24 to 55 years old (mean 30.2 ± 6.4). About 40% of the participants rated themselves as having poor level of knowledge in genetics in general whilst 60% believed that they have fair level of knowledge. However, almost half (46%) of the respondents felt that they were not knowledgeable about available genetic tests. A majority (94%) of the responders were not aware of any lab or company which is offering gene profiling services in Malaysia. Only 4% of participants were aware of using gene profiling for detection of dosage of some drugs. Respondents perceived greater utility of gene profiling for breast cancer (38%) compared to the colorectal familial cancer (3%). The score of knowledge ranged from 2 to 8 (mean 4.38 ± 1.67). Non-significant differences between score of knowledge of GPs and specialists were observed, with score of 4.19 and 4.58 respectively. There was no significant association between any demographic factors and level of knowledge. However, those who graduated between years 2001 to 2005 had higher level of knowledge. Overall, 83% of participants showed relatively high level of perception on value of gene profiling to detect patient’s risk of disease. However, low perception was observed for both statements of using gene profiling for general population in order to alter their lifestyle (25%) as well as having the full sequence of a patient genome for the purpose of determining a patient’s best match for treatment (18%). The lack of clinical guidelines, limited provider knowledge and awareness, lack of time and resources to educate patients, lack of evidence-based clinical information and cost of tests were the most barriers of ordering gene profiling mentioned by physicians. In conclusion Malaysian physicians who participate in this study had mediocre level of knowledge and awareness in gene profiling. The low exposure to the genetic questions and problems might be a key predictor of lack of awareness and knowledge on available genetic tests. Educational and training workshop might be useful in helping Malaysian physicians incorporate genetic profiling into practice for eligible patients.Keywords: gene profiling, knowledge, Malaysia, physician
Procedia PDF Downloads 3263971 Decision Support System for Solving Multi-Objective Routing Problem
Authors: Ismail El Gayar, Ossama Ismail, Yousri El Gamal
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This paper presented a technique to solve one of the transportation problems that faces us in real life which is the Bus Scheduling Problem. Most of the countries using buses in schools, companies and traveling offices as an example to transfer multiple passengers from many places to specific place and vice versa. This transferring process can cost time and money, so we build a decision support system that can solve this problem. In this paper, a genetic algorithm with the shortest path technique is used to generate a competitive solution to other well-known techniques. It also presents a comparison between our solution and other solutions for this problem.Keywords: bus scheduling problem, decision support system, genetic algorithm, shortest path
Procedia PDF Downloads 4163970 Parameters Estimation of Multidimensional Possibility Distributions
Authors: Sergey Sorokin, Irina Sorokina, Alexander Yazenin
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We present a solution to the Maxmin u/E parameters estimation problem of possibility distributions in m-dimensional case. Our method is based on geometrical approach, where minimal area enclosing ellipsoid is constructed around the sample. Also we demonstrate that one can improve results of well-known algorithms in fuzzy model identification task using Maxmin u/E parameters estimation.Keywords: possibility distribution, parameters estimation, Maxmin u\E estimator, fuzzy model identification
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