Search results for: genetic predisposition
1052 Intelligent Control of Doubly Fed Induction Generator Wind Turbine for Smart Grid
Authors: Amal A. Hassan, Faten H. Fahmy, Abd El-Shafy A. Nafeh, Hosam K. M. Youssef
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Due to the growing penetration of wind energy into the power grid, it is very important to study its interactions with the power system and to provide good control technique in order to deliver high quality power. In this paper, an intelligent control methodology is proposed for optimizing the controllers’ parameters of doubly fed induction generator (DFIG) based wind turbine generation system (WTGS). The genetic algorithm (GA) and particle swarm optimization (PSO) are employed and compared for the parameters adaptive tuning of the proposed proportional integral (PI) multiple controllers of the back to back converters of the DFIG based WTGS. For this purpose, the dynamic model of WTGS with DFIG and its associated controllers is presented. Furthermore, the simulation of the system is performed using MATLAB/SIMULINK and SIMPOWERSYSTEM toolbox to illustrate the performance of the optimized controllers. Finally, this work is validated to 33-bus test radial system to show the interaction between wind distributed generation (DG) systems and the distribution network.Keywords: DFIG wind turine, intelligent control, distributed generation, particle swarm optimization, genetic algorithm
Procedia PDF Downloads 2621051 Genetically Informed Precision Drug Repurposing for Rheumatoid Arthritis
Authors: Sahar El Shair, Laura Greco, William Reay, Murray Cairns
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Background: Rheumatoid arthritis (RA) is a chronic, systematic, inflammatory, autoimmune disease that involves damages to joints and erosions to the associated bones and cartilage, resulting in reduced physical function and disability. RA is a multifactorial disorder influenced by heterogenous genetic and environmental factors. Whilst different medications have proven successful in reducing inflammation associated with RA, they often come with significant side effects and limited efficacy. To address this, the novel pharmagenic enrichment score (PES) algorithm was tested in self-reported RA patients from the UK Biobank (UKBB), which is a cohort of predominantly European ancestry, and identified individuals with a high genetic risk in clinically actionable biological pathways to identify novel opportunities for precision interventions and drug repurposing to treat RA. Methods and materials: Genetic association data for rheumatoid arthritis was derived from publicly available genome-wide association studies (GWAS) summary statistics (N=97173). The PES framework exploits competitive gene set enrichment to identify pathways that are associated with RA to explore novel treatment opportunities. This data is then integrated into WebGestalt, Drug Interaction database (DGIdb) and DrugBank databases to identify existing compounds with existing use or potential for repurposed use. The PES for each of these candidates was then profiled in individuals with RA in the UKBB (Ncases = 3,719, Ncontrols = 333,160). Results A total of 209 pathways with known drug targets after multiple testing correction were identified. Several pathways, including interferon gamma signaling and TID pathway (which relates to a chaperone that modulates interferon signaling), were significantly associated with self-reported RA in the UKBB when adjusting for age, sex, assessment centre month and location, RA polygenic risk and 10 principal components. These pathways have a major role in RA pathogenesis, including autoimmune attacks against certain citrullinated proteins, synovial inflammation, and bone loss. Encouragingly, many also relate to the mechanism of action of existing RA medications. The analyses also revealed statistically significant association between RA polygenic scores and self-reported RA with individual PES scorings, highlighting the potential utility of the PES algorithm in uncovering additional genetic insights that could aid in the identification of individuals at risk for RA and provide opportunities for more targeted interventions. Conclusions In this study, pharmacologically annotated genetic risk was explored through the PES framework to overcome inter-individual heterogeneity and enable precision drug repurposing in RA. The results showed a statistically significant association between RA polygenic scores and self-reported RA and individual PES scorings for 3,719 RA patients. Interestingly, several enriched PES pathways were targeted by already approved RA drugs. In addition, the analysis revealed genetically supported drug repurposing opportunities for future treatment of RA with a relatively safe profile.Keywords: rheumatoid arthritis, precision medicine, drug repurposing, system biology, bioinformatics
Procedia PDF Downloads 701050 A Study on the Assessment of Prosthetic Infection after Total Knee Replacement Surgery
Authors: Chun-Lang Chang, Chun-Kai Liu
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In this study, the patients that have undergone total knee replacement surgery from the 2010 National Health Insurance database were adopted as the study participants. The important factors were screened and selected through literature collection and interviews with physicians. Through the Cross Entropy Method (CE), Genetic Algorithm Logistic Regression (GALR), and Particle Swarm Optimization (PSO), the weights of the factors were obtained. In addition, the weights of the respective algorithms, coupled with the Excel VBA were adopted to construct the Case Based Reasoning (CBR) system. The results through statistical tests show that the GALR and PSO produced no significant differences, and the accuracy of both models were above 97%. Moreover, the area under the curve of ROC for these two models also exceeded 0.87. This study shall serve as a reference for medical staff as an assistance for clinical assessment of infections in order to effectively enhance medical service quality and efficiency, avoid unnecessary medical waste, and substantially contribute to resource allocations in medical institutions.Keywords: Case Based Reasoning, Cross Entropy Method, Genetic Algorithm Logistic Regression, Particle Swarm Optimization, Total Knee Replacement Surgery
Procedia PDF Downloads 3201049 A Hybrid Data Mining Algorithm Based System for Intelligent Defence Mission Readiness and Maintenance Scheduling
Authors: Shivam Dwivedi, Sumit Prakash Gupta, Durga Toshniwal
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It is a challenging task in today’s date to keep defence forces in the highest state of combat readiness with budgetary constraints. A huge amount of time and money is squandered in the unnecessary and expensive traditional maintenance activities. To overcome this limitation Defence Intelligent Mission Readiness and Maintenance Scheduling System has been proposed, which ameliorates the maintenance system by diagnosing the condition and predicting the maintenance requirements. Based on new data mining algorithms, this system intelligently optimises mission readiness for imminent operations and maintenance scheduling in repair echelons. With modified data mining algorithms such as Weighted Feature Ranking Genetic Algorithm and SVM-Random Forest Linear ensemble, it improves the reliability, availability and safety, alongside reducing maintenance cost and Equipment Out of Action (EOA) time. The results clearly conclude that the introduced algorithms have an edge over the conventional data mining algorithms. The system utilizing the intelligent condition-based maintenance approach improves the operational and maintenance decision strategy of the defence force.Keywords: condition based maintenance, data mining, defence maintenance, ensemble, genetic algorithms, maintenance scheduling, mission capability
Procedia PDF Downloads 2851048 A Genetic Identification of Candida Species Causing Intravenous Catheter-Associated Candidemia in Heart Failure Patients
Authors: Seyed Reza Aghili, Tahereh Shokohi, Shirin Sadat Hashemi Fesharaki, Mohammad Ali Boroumand, Bahar Salmanian
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Introduction: Intravenous catheter-associated fungal infection as nosocomial infection continue to be a deep problem among hospitalized patients, decreasing quality of life and adding healthcare costs. The capacity of catheters in the spread of candidemia in heart failure patients is obvious. The aim of this study was to evaluate the prevalence and genetic identification of Candida species in heart disorder patients. Material and Methods: This study was conducted in Tehran Hospital of Cardiology Center (Tehran, Iran, 2014) during 1.5 years on the patients hospitalized for at least 7 days and who had central or peripheral vein catheter. Culture of catheters, blood and skin of the location of catheter insertion were applied for detecting Candida colonies in 223 patients. Identification of Candida species was made on the basis of a combination of various phenotypic methods and confirmed by sequencing the ITS1-5.8S-ITS2 region amplified from the genomic DNA using PCR and the NCBI BLAST. Results: Of the 223 patients samples tested, we identified totally 15 Candida isolates obtained from 9 (4.04%) catheter cultures, 3 (1.35%) blood cultures and 2 (0.90%) skin cultures of the catheter insertion areas. On the base of ITS region sequencing, out of nine Candida isolates from catheter, 5(55.6%) C. albicans, 2(22.2%) C. glabrata, 1(11.1%) C. membranifiaciens and 1 (11.1%) C. tropicalis were identified. Among three Candida isolates from blood culture, C. tropicalis, C. carpophila and C. membranifiaciens were identified. Non-candida yeast isolated from one blood culture was Cryptococcus albidus. One case of C. glabrata and one case of Candida albicans were isolated from skin culture of the catheter insertion areas in patients with positive catheter culture. In these patients, ITS region of rDNA sequence showed a similarity between Candida isolated from the skin and catheter. However, the blood samples of these patients were negative for fungal growth. We report two cases of catheter-related candidemia caused by C. membranifiaciens and C. tropicalis on the base of genetic similarity of species isolated from blood and catheter which were treated successfully with intravenous fluconazole and catheter removal. In phenotypic identification methods, we could only identify C. albicans and C. tropicalis and other yeast isolates were diagnosed as Candida sp. Discussion: Although more than 200 species of Candida have been identified, only a few cause diseases in humans. There is some evidence that non-albicans infections are increasing. Many risk factors, including prior antibiotic therapy, use of a central venous catheter, surgery, and parenteral nutrition are considered to be associated with candidemia in hospitalized heart failure patients. Identifying the route of infection in candidemia is difficult. Non-albicans candida as the cause of candidemia is increasing dramatically. By using conventional method, many non-albicans isolates remain unidentified. So, using more sensitive and specific molecular genetic sequencing to clarify the aspects of epidemiology of the unknown candida species infections is essential. The positive blood and catheter cultures for candida isolates and high percentage of similarity of their ITS region of rDNA sequence in these two patients confirmed the diagnosis of intravenous catheter-associated candidemia.Keywords: catheter-associated infections, heart failure patient, molecular genetic sequencing, ITS region of rDNA, Candidemia
Procedia PDF Downloads 3231047 A Hybrid Feature Selection and Deep Learning Algorithm for Cancer Disease Classification
Authors: Niousha Bagheri Khulenjani, Mohammad Saniee Abadeh
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Learning from very big datasets is a significant problem for most present data mining and machine learning algorithms. MicroRNA (miRNA) is one of the important big genomic and non-coding datasets presenting the genome sequences. In this paper, a hybrid method for the classification of the miRNA data is proposed. Due to the variety of cancers and high number of genes, analyzing the miRNA dataset has been a challenging problem for researchers. The number of features corresponding to the number of samples is high and the data suffer from being imbalanced. The feature selection method has been used to select features having more ability to distinguish classes and eliminating obscures features. Afterward, a Convolutional Neural Network (CNN) classifier for classification of cancer types is utilized, which employs a Genetic Algorithm to highlight optimized hyper-parameters of CNN. In order to make the process of classification by CNN faster, Graphics Processing Unit (GPU) is recommended for calculating the mathematic equation in a parallel way. The proposed method is tested on a real-world dataset with 8,129 patients, 29 different types of tumors, and 1,046 miRNA biomarkers, taken from The Cancer Genome Atlas (TCGA) database.Keywords: cancer classification, feature selection, deep learning, genetic algorithm
Procedia PDF Downloads 1061046 Scheduling of Cross-Docking Center: An Auction-Based Algorithm
Authors: Eldho Paul, Brijesh Paul
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This work proposes an auction mechanism based solution methodology for the optimum scheduling of trucks in a cross-docking centre. The cross-docking centre is an important element of lean supply chain. It reduces the amount of storage and transportation costs in the distribution system compared to an ordinary warehouse. Better scheduling of trucks in a cross-docking center is the best way to reduce storage and transportation costs. Auction mechanism is commonly used for allocation of limited resources in different real-life applications. Here, we try to schedule inbound trucks by integrating auction mechanism with the functioning of a cross-docking centre. A mathematical model is developed for the optimal scheduling of inbound trucks based on the auction methodology. The determination of exact solution for problems involving large number of trucks was found to be computationally difficult, and hence a genetic algorithm based heuristic methodology is proposed in this work. A comparative study of exact and heuristic solutions is done using five classes of data sets. It is observed from the study that the auction-based mechanism is capable of providing good solutions to scheduling problem in cross-docking centres.Keywords: auction mechanism, cross-docking centre, genetic algorithm, scheduling of trucks
Procedia PDF Downloads 4081045 Effect of an Interface Defect in a Patch/Layer Joint under Dynamic Time Harmonic Load
Authors: Elisaveta Kirilova, Wilfried Becker, Jordanka Ivanova, Tatyana Petrova
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The study is a continuation of the research on the hygrothermal piezoelectric response of a smart patch/layer joint with undesirable interface defect (gap) at dynamic time harmonic mechanical and electrical load and environmental conditions. In order to find the axial displacements, shear stress and interface debond length in a closed analytical form for different positions of the interface gap, the 1D modified shear lag analysis is used. The debond length is represented as a function of many parameters (frequency, magnitude, electric displacement, moisture and temperature, joint geometry, position of the gap along the interface, etc.). Then the Genetic algorithm (GA) is implemented to find this position of the gap along the interface at which a vanishing/minimal debond length is ensured, e.g to find the most harmless position for the safe work of the structure. The illustrative example clearly shows that analytical shear-lag solutions and GA method can be combined successfully to give an effective prognosis of interface shear stress and interface delamination in patch/layer structure at combined loading with existing defects. To show the effect of the position of the interface gap, all obtained results are given in figures and discussed.Keywords: genetic algorithm, minimal delamination, optimal gap position, shear lag solution
Procedia PDF Downloads 2981044 Evaluation of Genetic Diversity for Salt Stress in Maize Hybrids (Zea Mays L.) at Seedling Stage
Authors: Abdu Qayyum, Hafiz Muhammad Saeed, Mamoona Hanif, Etrat Noor, Waqas Malik, Shoaib Liaqat
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Salinity is extremely serious problem that has a drastic effect on maize crop, environment and causes economic losses of country. An advance technique to overcome salinity is to develop salt tolerant geno types which require screening of huge germ plasm to start a breeding program. Therefore, present study was undertaken to screen out 25 maize hybrids of different origin for salinity tolerance at seedling stage under three levels of salt stress 250 and 300 mM NaCl including one control. The existence of variation for tolerance to enhanced NaCl salinity levels at seedling stage in maize proved that hybrids had differing ability to grow under saline environment and potential variability within specie. Almost all the twenty five maize hybrids behaved varyingly in response to different salinity levels. However, the maize hybrids H6, H13, H21, H23 and H24 expressed better performance under salt stress in terms of all six characters and proved to be as highly tolerant while H22, H17 H20, H18, H4, H9, and H8 were identified as moderately tolerant. Hybrids H14, H5, H11 and H3 H12, H2, were expressed as most sensitive to salinity suggesting that screening is an effective tool to exploit genetic variation among maize hybrids and salt tolerance in maize can be enhanced through selection and breeding procedure.Keywords: salinity, hybrids, maize, variation
Procedia PDF Downloads 7111043 A Hybrid Expert System for Generating Stock Trading Signals
Authors: Hosein Hamisheh Bahar, Mohammad Hossein Fazel Zarandi, Akbar Esfahanipour
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In this paper, a hybrid expert system is developed by using fuzzy genetic network programming with reinforcement learning (GNP-RL). In this system, the frame-based structure of the system uses the trading rules extracted by GNP. These rules are extracted by using technical indices of the stock prices in the training time period. For developing this system, we applied fuzzy node transition and decision making in both processing and judgment nodes of GNP-RL. Consequently, using these method not only did increase the accuracy of node transition and decision making in GNP's nodes, but also extended the GNP's binary signals to ternary trading signals. In the other words, in our proposed Fuzzy GNP-RL model, a No Trade signal is added to conventional Buy or Sell signals. Finally, the obtained rules are used in a frame-based system implemented in Kappa-PC software. This developed trading system has been used to generate trading signals for ten companies listed in Tehran Stock Exchange (TSE). The simulation results in the testing time period shows that the developed system has more favorable performance in comparison with the Buy and Hold strategy.Keywords: fuzzy genetic network programming, hybrid expert system, technical trading signal, Tehran stock exchange
Procedia PDF Downloads 3271042 Forecasting Optimal Production Program Using Profitability Optimization by Genetic Algorithm and Neural Network
Authors: Galal H. Senussi, Muamar Benisa, Sanja Vasin
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In our business field today, one of the most important issues for any enterprises is cost minimization and profit maximization. Second issue is how to develop a strong and capable model that is able to give us desired forecasting of these two issues. Many researches deal with these issues using different methods. In this study, we developed a model for multi-criteria production program optimization, integrated with Artificial Neural Network. The prediction of the production cost and profit per unit of a product, dealing with two obverse functions at same time can be extremely difficult, especially if there is a great amount of conflict information about production parameters. Feed-Forward Neural Networks are suitable for generalization, which means that the network will generate a proper output as a result to input it has never seen. Therefore, with small set of examples the network will adjust its weight coefficients so the input will generate a proper output. This essential characteristic is of the most important abilities enabling this network to be used in variety of problems spreading from engineering to finance etc. From our results as we will see later, Feed-Forward Neural Networks has a strong ability and capability to map inputs into desired outputs.Keywords: project profitability, multi-objective optimization, genetic algorithm, Pareto set, neural networks
Procedia PDF Downloads 4401041 Agricultural Biotechnology Crop Improvement
Authors: Mohsen Rezaei Aghdam
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Recombinant DNA technology has meaningfully augmented the conventional crop improvement and has a great possibility to contribution plant breeders to encounter the augmented food request foretold for the 21st century. Predictable changes in weather and its erraticism, chiefly extreme fevers and vicissitudes in rainfall are expected to brand crop upgrading even more vital for food manufacture. Tissue attitude has been downtrodden to create genetic erraticism from which harvest plants can be better, to improve the state of health of the recognized physical and to upsurge the number of wanted germplasms obtainable to the plant breeder. This appraisal delivers an impression of the chances obtainable by the integration of vegetable biotechnology into plant development efforts and increases some of the social subjects that need to be considered in their application. Public-private companies offer chances to catalyze new approaches and investment while accelerating integrated research and development and commercial supply chain-based solutions. Novel varieties derivative by encouraged mutatgenesis are used commonly: rice in Thailand. These paper combinations obtainable data about the influence of change breeding-derived crop changes around the world, traveler magnetism the possibility of mutation upbringing as a flexible and feasible approach appropriate to any crop if that suitable objectives and selection approaches are used.Keywords: crop, improve, genetic, agricultural
Procedia PDF Downloads 1551040 An Improved Data Aided Channel Estimation Technique Using Genetic Algorithm for Massive Multi-Input Multiple-Output
Authors: M. Kislu Noman, Syed Mohammed Shamsul Islam, Shahriar Hassan, Raihana Pervin
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With the increasing rate of wireless devices and high bandwidth operations, wireless networking and communications are becoming over crowded. To cope with such crowdy and messy situation, massive MIMO is designed to work with hundreds of low costs serving antennas at a time as well as improve the spectral efficiency at the same time. TDD has been used for gaining beamforming which is a major part of massive MIMO, to gain its best improvement to transmit and receive pilot sequences. All the benefits are only possible if the channel state information or channel estimation is gained properly. The common methods to estimate channel matrix used so far is LS, MMSE and a linear version of MMSE also proposed in many research works. We have optimized these methods using genetic algorithm to minimize the mean squared error and finding the best channel matrix from existing algorithms with less computational complexity. Our simulation result has shown that the use of GA worked beautifully on existing algorithms in a Rayleigh slow fading channel and existence of Additive White Gaussian Noise. We found that the GA optimized LS is better than existing algorithms as GA provides optimal result in some few iterations in terms of MSE with respect to SNR and computational complexity.Keywords: channel estimation, LMMSE, LS, MIMO, MMSE
Procedia PDF Downloads 1871039 Estimation of Optimum Parameters of Non-Linear Muskingum Model of Routing Using Imperialist Competition Algorithm (ICA)
Authors: Davood Rajabi, Mojgan Yazdani
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Non-linear Muskingum model is an efficient method for flood routing, however, the efficiency of this method is influenced by three applied parameters. Therefore, efficiency assessment of Imperialist Competition Algorithm (ICA) to evaluate optimum parameters of non-linear Muskingum model was addressed through this study. In addition to ICA, Genetic Algorithm (GA) and Particle Swarm Optimization (PSO) were also used aiming at an available criterion to verdict ICA. In this regard, ICA was applied for Wilson flood routing; then, routing of two flood events of DoAab Samsami River was investigated. In case of Wilson flood that the target function was considered as the sum of squared deviation (SSQ) of observed and calculated discharges. Routing two other floods, in addition to SSQ, another target function was also considered as the sum of absolute deviations of observed and calculated discharge. For the first floodwater based on SSQ, GA indicated the best performance, however, ICA was on first place, based on SAD. For the second floodwater, based on both target functions, ICA indicated a better operation. According to the obtained results, it can be said that ICA could be used as an appropriate method to evaluate the parameters of Muskingum non-linear model.Keywords: Doab Samsami river, genetic algorithm, imperialist competition algorithm, meta-exploratory algorithms, particle swarm optimization, Wilson flood
Procedia PDF Downloads 4971038 Genetic Divergence Study of Rice on the Basis of Various Morphological Traits
Authors: Muhammad Ashfaq, Muhammad Saleem Haider, Muhammad Ali, Muhammad Sajjad, Amna Ali, Urooj Mubashar
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Phenotypic diversity was confirmed by measuring different morphological traits i.e. seed traits (seed length, seed width, seed thickness, seed length-width ratio, 1000 grain weight) and root-shoot traits (shoot length, root length, shoot fresh weight, root fresh weight, root-shoot ratio, root numbers and root thickness). Variance and association study of desirable traits determine the genotypic differences among the rice germplasm. All the traits showed significant differences among the genotypes. The traits were studied in Randomized complete block design (RCBD) at different water levels. Some traits showed positive correlation with each other and beneficial for increasing the yield and production of the crop. Seed thickness has positive correlation with seed length and seed width (r= 0.104**, r=0.246**). On the other hand, various root shoot traits showed positive highly significant association at different water levels i.e. root length, fresh root weight, root thickness, shoot thickness and root numbers. Our main focus to study the performance/correlation of root shoots traits under stress condition. Fresh root weight, shoot thickness and root numbers showed positive significant association with shoot length, root length, fresh root and shoot weight (r=0.2530**, r=0.2891**, r=0.4626**, r=0.4515**, r=0.5781**, r=0.7164**, r=0.0603**, r= 0.5570**, r=0.5824**). Long root length genotypes favors and suitable for drought stress conditions and screening of diverse genotypes for the further development of new plant material that performing well under different environmental conditions. After screening genetic diversity of potential rice, lines were studied to check the polymorphism by using some SSR markers. DNA was extracted, and PCR analyses were done to study PIC values and allelic diversity of the genotypes. The main objective of this study is to screen out the genotypes on the basis of various genotypic and phenotypic traits.Keywords: rice, morphological traits, association, germplasm, genetic diversity, water levels, variation
Procedia PDF Downloads 3131037 Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India
Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.
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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders
Procedia PDF Downloads 4091036 A Comparison of South East Asian Face Emotion Classification based on Optimized Ellipse Data Using Clustering Technique
Authors: M. Karthigayan, M. Rizon, Sazali Yaacob, R. Nagarajan, M. Muthukumaran, Thinaharan Ramachandran, Sargunam Thirugnanam
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In this paper, using a set of irregular and regular ellipse fitting equations using Genetic algorithm (GA) are applied to the lip and eye features to classify the human emotions. Two South East Asian (SEA) faces are considered in this work for the emotion classification. There are six emotions and one neutral are considered as the output. Each subject shows unique characteristic of the lip and eye features for various emotions. GA is adopted to optimize irregular ellipse characteristics of the lip and eye features in each emotion. That is, the top portion of lip configuration is a part of one ellipse and the bottom of different ellipse. Two ellipse based fitness equations are proposed for the lip configuration and relevant parameters that define the emotions are listed. The GA method has achieved reasonably successful classification of emotion. In some emotions classification, optimized data values of one emotion are messed or overlapped to other emotion ranges. In order to overcome the overlapping problem between the emotion optimized values and at the same time to improve the classification, a fuzzy clustering method (FCM) of approach has been implemented to offer better classification. The GA-FCM approach offers a reasonably good classification within the ranges of clusters and it had been proven by applying to two SEA subjects and have improved the classification rate.Keywords: ellipse fitness function, genetic algorithm, emotion recognition, fuzzy clustering
Procedia PDF Downloads 5411035 Whole Coding Genome Inter-Clade Comparison to Predict Global Cancer-Protecting Variants
Authors: Lamis Naddaf, Yuval Tabach
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In this research, we identified the missense genetic variants that have the potential to enhance resistance against cancer. Such field has not been widely explored, as researchers tend to investigate mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution, and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and can have significant implications on improved risk estimation, diagnostics, prognosis and even for personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and picked up the alleles that showed a correlation with the species’ cancer resistance. We predicted 250 protecting variants (PVs) with a 0.01 false discovery rate and more than 20 thousand PVs with a 0.25 false discovery rate. Cancer resistance in Mammals and reptiles was significantly predicted by the number of PVs a species has. Moreover, Genes enriched with the protecting variants are enriched in pathways relevant to tumor suppression like pathways of Hedgehog signaling and silencing, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are more abundant in healthy people compared to cancer patients within different human races.Keywords: comparative genomics, machine learning, cancer resistance, cancer-protecting alleles
Procedia PDF Downloads 931034 Mapping QTLs Associated with Salinity Tolerance in Maize at Seedling Stage
Authors: Mohammad Muhebbullah Ibne Hoque, Zheng Jun, Wang Guoying
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Salinity stress is one of the most important abiotic factors contributing to crop growth and yield loss. Exploring the genetic basis is necessary to develop maize varieties with salinity tolerance. In order to discover the inherent basis for salinity tolerance traits in maize, 121 polymorphic SSR markers were used to analyze 163 F2 individuals derived from a single cross of inbred line B73 (a salt susceptible inbred line) and CZ-7 (a salt tolerant inbred line). A linkage map was constructed and the map covered 1195.2 cM of maize genome with an average distance of 9.88 cM between marker loci. Ten salt tolerance traits at seedling stage were evaluated for QTL analysis in maize seedlings. A total of 41 QTLs associated with seedling shoot and root traits were detected, with 16 and 25 QTLs under non-salinity and salinity condition, respectively. And only 4 major stable QTLs were detected in two environments. The detected QTLs were distributed on chromosomes 1, 2, 4, 5, 6, 7, 8, 9, and chromosome 10. Phenotypic variability for the identified QTLs for all the traits was in the range from 6.27 to 21.97%. Fourteen QTLs with more than 10% contributions were observed. Our results and the markers associated with the major QTL detected in this study have the potential application for genetic improvement of salt tolerance in maize through marker-assisted selection.Keywords: salt tolerance, seedling stage, root shoot traits, quantitative trait loci, simple sequence repeat, maize
Procedia PDF Downloads 3091033 An Application of Meta-Modeling Methods for Surrogating Lateral Dynamics Simulation in Layout-Optimization for Electric Drivetrains
Authors: Christian Angerer, Markus Lienkamp
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Electric vehicles offer a high variety of possible drivetrain topologies with up to 4 motors. Multi-motor-designs can have several advantages regarding traction, vehicle dynamics, safety and even efficiency. With a rising number of motors, the whole drivetrain becomes more complex. All permutations of gearings, drivetrain-layouts, motor-types and –sizes lead up in a very large solution space. Single elements of this solution space can be analyzed by simulation methods. In addition to longitudinal vehicle behavior, which most optimization-approaches are restricted to, also lateral dynamics are important for vehicle dynamics, stability and efficiency. In order to compete large solution spaces and to find an optimal result, genetic algorithm based optimization is state-of-the-art. As lateral dynamics simulation is way more CPU-intensive, optimization takes much more time than in case of longitudinal-only simulation. Therefore, this paper shows an approach how to create meta-models from a 14-degree of freedom vehicle model in order to enable a numerically efficient drivetrain-layout optimization process under consideration of lateral dynamics. Different meta-modelling approaches such as neural networks or DoE are implemented and comparatively discussed.Keywords: driving dynamics, drivetrain layout, genetic optimization, meta-modeling, lateral dynamicx
Procedia PDF Downloads 4081032 Cellulose Enhancement in Wood Used in Pulp Production by Overexpression of Korrigan and Sucrose Synthase Genes
Authors: Anil Kumar, Diwakar Aggarwal, M. Sudhakara Reddy
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The wood of Eucalyptus, Populus and bamboos are some important species used as raw material for the manufacture of pulp. However, higher levels of lignin pose a problem during Kraft pulping and yield of pulp is also lower. In order to increase the yield of pulp per unit wood and reduce the use of chemicals during kraft pulping it is important to reduce the lignin content and/or increase cellulose content in wood. Cellulose biosynthesis in wood takes place by the coordinated action of many enzymes. The two important enzymes are KORRIGAN and SUCROSE SYNTHASE. KORRIGAN (Endo-1,4--glucanase) is implicated in the process of editing growing cellulose chains and improvement of the crystallinity of produced cellulose, whereas SUCROSE SYNTHASE is involved in providing substrate (UDP-glucose) for growing cellulose chains. The present study was aimed at the cloning, characterization and overexpression of these genes in Eucalyptus and Populus. An efficient shoot organogenesis protocol from leaf explants taken from micro shoots of the species has been developed. Agrobacterium mediated genetic transformation using Agrobacterium tumefaciens strain EHA105 and LBA4404 harboring binary vector pBI121 was achieved. Both the genes were cloned from cDNA library of Populus deltoides. These were subsequently characterized using various bioinformatics tools. The cloned genes were then inserted into pBI121 under the CaMV35S promotors replacing GUS gene. The constructs were then mobilized into above strains of Agrobacterium and used for the transformation work. Subsequently, genetic transformation of these clones with target genes following already developed protocol is in progress. Four transgenic lines of Eucalyptus tereticornis overexpressing Korrigan gene under the strong constitutive promoters CaMV35S have been developed, which are being further evaluated. Work on development of more transgenic lines overexpressing these genes in Populus and Eucalyptus is also in progress. This presentation will focus on important developments in this direction.Keywords: Eucalyptus tereticornis, genetic transformation, Kraft pulping Populus deltoides
Procedia PDF Downloads 1331031 Arbitrarily Shaped Blur Kernel Estimation for Single Image Blind Deblurring
Authors: Aftab Khan, Ashfaq Khan
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The research paper focuses on an interesting challenge faced in Blind Image Deblurring (BID). It relates to the estimation of arbitrarily shaped or non-parametric Point Spread Functions (PSFs) of motion blur caused by camera handshake. These PSFs exhibit much more complex shapes than their parametric counterparts and deblurring in this case requires intricate ways to estimate the blur and effectively remove it. This research work introduces a novel blind deblurring scheme visualized for deblurring images corrupted by arbitrarily shaped PSFs. It is based on Genetic Algorithm (GA) and utilises the Blind/Reference-less Image Spatial QUality Evaluator (BRISQUE) measure as the fitness function for arbitrarily shaped PSF estimation. The proposed BID scheme has been compared with other single image motion deblurring schemes as benchmark. Validation has been carried out on various blurred images. Results of both benchmark and real images are presented. Non-reference image quality measures were used to quantify the deblurring results. For benchmark images, the proposed BID scheme using BRISQUE converges in close vicinity of the original blurring functions.Keywords: blind deconvolution, blind image deblurring, genetic algorithm, image restoration, image quality measures
Procedia PDF Downloads 4381030 THRAP2 Gene Identified as a Candidate Susceptibility Gene of Thyroid Autoimmune Diseases Pedigree in Tunisian Population
Authors: Ghazi Chabchoub, Mouna Feki, Mohamed Abid, Hammadi Ayadi
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Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), are inherited as complex traits. Genetic factors associated with AITDs have been tentatively identified by candidate gene and genome scanning approaches. We analysed three intragenic microsatellite markers in the thyroid hormone receptor associated protein 2 gene (THRAP2), mapped near D12S79 marker, which have a potential role in immune function and inflammation [THRAP2-1(TG)n, THRAP2-2 (AC)n and THRAP2-3 (AC)n]. Our study population concerned 12 patients affected with AITDs belonging to a multiplex Tunisian family with high prevalence of AITDs. Fluorescent genotyping was carried out on ABI 3100 sequencers (Applied Biosystems USA) with the use of GENESCAN for semi-automated fragment sizing and GENOTYPER peak-calling software. Statistical analysis was performed using the non parametric Lod score (NPL) by Merlin software. Merlin outputs non-parametric NPLall (Z) and LOD scores and their corresponding asymptotic P values. The analysis for three intragenic markers in the THRAP2 gene revealed strong evidence for linkage (NPL=3.68, P=0.00012). Our results suggested the possible role of THRAP2 gene in AITDs susceptibility in this family.Keywords: autoimmunity, autoimmune disease, genetic, linkage analysis
Procedia PDF Downloads 1151029 Whole Coding Genome Inter-Clade Comparisons to Predict Global Cancer-Protecting Variants
Authors: Lamis Naddaf, Yuval Tabach
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We identified missense genetic variants with the potential to enhance resistance against cancer. Such a field has not been widely explored as researchers tend to investigate the mutations that cause diseases, in response to the suffering of patients, rather than those mutations that protect from them. In conjunction with the genomic revolution and the advances in genetic engineering and synthetic biology, identifying the protective variants will increase the power of genotype-phenotype predictions and have significant implications for improved risk estimation, diagnostics, prognosis, and even personalized therapy and drug discovery. To approach our goal, we systematically investigated the sites of the coding genomes and selected the alleles that showed a correlation with the species’ cancer resistance. Interestingly, we found several amino acids that are more generally preferred (like the Proline) or avoided (like the Cysteine) by the resistant species. Furthermore, Cancer resistance in mammals and reptiles is significantly predicted by the number of the predicted protecting variants (PVs) a species has. Moreover, PVs-enriched-genes are enriched in pathways relevant to tumor suppression. For example, they are enriched in the Hedgehog signaling and silencing pathways, which its improper activation is associated with the most common form of cancer malignancy. We also showed that the PVs are mostly more abundant in healthy people compared to cancer patients within different human races.Keywords: cancer resistance, protecting variant, naked mole rat, comparative genomics
Procedia PDF Downloads 1021028 MMP-2 Gene Polymorphism and Its Influence on Serum MMP-2 Levels in Pre-Eclampsia in Indian Population
Authors: Ankush Kalra, Mirza Masroor, Usha Manaktala, B. C. Koner, T. K. Mishra
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Introduction: Pre-eclampsia affects 3-5% of pregnancies worldwide and increases maternal-fetal morbidity and mortality. Reduced placental perfusion induces the release of biomolecules by the placenta into maternal circulation causing endothelial dysfunction. Zinc dependent matrix metalloproteinase-2 (MMP-2) may be up-regulated and interact with circulating factors of oxidative stress and inflammation to produce endothelial dysfunction in pre-eclampsia. Aim: To study the functional genetic polymorphism of MMP-2 gene (g-1306 C>T) in pre-eclampsia and its effect on serum MMP-2 levels in these patients. Method: Hundred pre-eclampsia patients and hundred age and gestation period matched healthy pregnant women with their consent were recruited in the study. Serum MMP-2 levels in all subjects were estimated using standard ELISA kits. MMP-2 gene (g.- 1306 C>T) SNPs were genotyped using whole blood by ASO-PCR. Result: The pre-eclampsia patients had higher serum levels of MMP-2 compared to the healthy pregnant (p < 0.05). Also the MMP-2 genotype was associated with significant alteration in the serum MMP-2 concentration in these patients (p < 0.05). Conclusion: This study results suggest an association of MMP-2 genetic polymorphism and serum levels of MMP-2 to the path physiology of hypertensive disorder of pregnancy.Keywords: allele specific oligonucleotide polymerase chain reaction (ASO-PCR), enzyme linked immunosorbent assay (ELISA), matrix metalloproteinase-2 (MMP-2), pre-eclampsia
Procedia PDF Downloads 3221027 Sustainable Harvesting, Conservation and Analysis of Genetic Diversity in Polygonatum Verticillatum Linn.
Authors: Anchal Rana
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Indian Himalayas with their diverse climatic conditions are home to many rare and endangered medicinal flora. One such species is Polygonatum verticillatum Linn., popularly known as King Solomon’s Seal or Solomon’s Seal. Its mention as an incredible medicinal herb comes from 5000 years ago in Indian Materia Medica as a component of Ashtavarga, a poly-herbal formulation comprising of eight herbs illustrated as world’s first ever revitalizing and rejuvenating nutraceutical food, which is now commercialised in the name ‘Chaywanprash’. It is an erect tall (60 to 120 cm) perennial herb with sessile, linear leaves and white pendulous flowers. The species grows well in an altitude range of 1600 to 3600 m amsl, and propagates mostly through rhizomes. The rhizomes are potential source for significant phytochemicals like flavonoids, phenolics, lectins, terpenoids, allantoin, diosgenin, β-Sitosterol and quinine. The presence of such phytochemicals makes the species an asset for antioxidant, cardiotonic, demulcent, diuretic, energizer, emollient, aphrodisiac, appetizer, glactagogue, etc. properties. Having profound concentrations of macro and micronutrients, species has fine prospects of being used as a diet supplement. However, due to unscientific and gregarious uprooting, it has been assigned a status of ‘vulnerable’ and ‘endangered’ in the Conservation Assessment and Management Plan (CAMP) process conducted by Foundation for Revitalisation of Local Health Traditions (FRLHT) during 2010, according to IUCN Red-List Criteria. Further, destructive harvesting, land use disturbances, heavy livestock grazing, climatic changes and habitat fragmentation have substantially contributed towards anomaly of the species. It, therefore, became imperative to conserve the diversity of the species and make judicious use in future research and commercial programme and schemes. A Gene Bank was therefore established at High Altitude Herbal Garden of the Forest Research Institute, Dehradun, India situated at Chakarata (30042’52.99’’N, 77051’36.77’’E, 2205 m amsl) consisting 149 accessions collected from thirty-one geographical locations spread over three Himalayan States of Jammu and Kashmir, Himachal Pradesh, and Uttarakhand. The present investigations purport towards sampling and collection of divergent germplasm followed by planting and cultivation techniques. The ultimate aim is thereby focussed on analysing genetic diversity of the species and capturing promising genotypes for carrying out further genetic improvement programme so to contribute towards sustainable development and healthcare.Keywords: Polygonatum verticillatum Linn., phytochemicals, genetic diversity, conservation, gene bank
Procedia PDF Downloads 1581026 Genetic Diversity of Norovirus Strains in Outpatient Children from Rural Communities of Vhembe District, South Africa, 2014-2015
Authors: Jean Pierre Kabue, Emma Meader, Afsatou Ndama Traore, Paul R. Hunter, Natasha Potgieter
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Norovirus is now considered the most common cause of outbreaks of nonbacterial gastroenteritis. Limited data are available for Norovirus strains in Africa, especially in rural and peri-urban areas. Despite the excessive burden of diarrhea disease in developing countries, Norovirus infections have been to date mostly reported in developed countries. There is a need to investigate intensively the role of viral agents associated with diarrhea in different settings in Africa continent. To determine the prevalence and genetic diversity of Norovirus strains circulating in the rural communities in the Limpopo Province, South Africa and investigate the genetic relationship between Norovirus strains, a cross-sectional study was performed on human stools collected from rural communities. Between July 2014 and April 2015, outpatient children under 5 years of age from rural communities of Vhembe District, South Africa, were recorded for the study. A total of 303 stool specimens were collected from those with diarrhea (n=253) and without (n=50) diarrhea. NoVs were identified using real-time one-step RT-PCR. Partial Sequence analyses were performed to genotype the strains. Phylogenetic analyses were performed to compare identified NoVs genotypes to the worldwide circulating strains. Norovirus detection rate was 41.1% (104/253) in children with diarrhea. There was no significant difference (OR=1.24; 95% CI 0.66-2.33) in Norovirus detection between symptomatic and asymptomatic children. Comparison of the median CT values for NoV in children with diarrhea and without diarrhea revealed significant statistical difference of estimated GII viral load from both groups, with a much higher viral burden in children with diarrhea. To our knowledge, this is the first study reporting on the differences in estimated viral load of GII and GI NoV positive cases and controls. GII.Pe (n=9) were the predominant genotypes followed by GII.Pe/GII.4 Sydney 2012 (n=8) suspected recombinant and GII.4 Sydney 2012 variants(n=7). Two unassigned GII.4 variants and an unusual RdRp genotype GII.P15 were found. With note, the rare GIIP15 identified in this study has a common ancestor with GIIP15 strain from Japan previously reported as GII/untypeable recombinant strain implicated in a gastroenteritis outbreak. To our knowledge, this is the first report of this unusual genotype in the African continent. Though not confirmed predictive of diarrhea disease in this study, the high detection rate of NoV is an indication of subsequent exposure of children from rural communities to enteric pathogens due to poor sanitation and hygiene practices. The results reveal that the difference between asymptomatic and symptomatic children with NoV may possibly be related to the NoV genogroups involved. The findings emphasize NoV genetic diversity and predominance of GII.Pe/GII.4 Sydney 2012, indicative of increased NoV activity. An uncommon GII.P15 and two unassigned GII.4 variants were also identified from rural settings of the Vhembe District/South Africa. NoV surveillance is required to help to inform investigations into NoV evolution, and to support vaccine development programmes in Africa.Keywords: asymptomatic, common, outpatients, norovirus genetic diversity, sporadic gastroenteritis, South African rural communities, symptomatic
Procedia PDF Downloads 1861025 Genetic Characteristics of Chicken Anemia Virus Circulating in Northern Vietnam
Authors: Hieu Van Dong, Giang Thi Huong Tran, Giap Van Nguyen, Tung Duy Dao, Vuong Nghia Bui, Le Thi My Huynh, Yohei Takeda, Haruko Ogawa, Kunitoshi Imai
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Chicken anemia virus (CAV) has a ubiquitous and worldwide distribution in chicken production. Our group previously reported high seroprevalence of CAV in chickens in northern Vietnam. In the present study, 330 tissue samples collected from commercial and breeder chicken farms in eleven provinces in northern Vietnam were tested for the CAV infection. We found that 157 out of 330 (47.58%) chickens were positive with CAV genes by real-time PCR method. Nine CAV strains obtained from the different location and time were forwarded to the full-length sequence of CAV VP1 gene. Phylogenetic analysis of the Vietnamese CAV vp1 gene indicated that the CAVs circulating in northern Vietnam were divided into three distinct genotypes, II, III, and V, but not clustered with the vaccine strains. Among the three genotypes, genotype III was the major one widely spread in Vietnam, and that included three sub-genotypes, IIIa, IIIb, and IIIc. The Vietnamese CAV strains were closely related to the Chinese, Taiwanese, and USA strains. All the CAV isolates had glutamine at amino acid position 394 in the VP1 gene, suggesting that they might be highly pathogenic strains. One strain was defined to be genotype V, which had not been reported for Vietnamese CAVs. Additional studies are required to further evaluate the pathogenicity of CAV strains circulating in Vietnam.Keywords: chicken anemia virus, genotype, genetic characteristics, Vietnam
Procedia PDF Downloads 1611024 Using Econometric Methods to Explore Obesity Stigma and Avoidance of Breast and Cervical Cancer Screening
Authors: Stephanie A. Schauder, Gosia Sylwestrzak
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Overweight and obese women report avoiding preventive care due to fear of weight-related bias from medical professionals. Gynecological exams, due to their sensitive and personally invasive nature, are especially susceptible to avoidance. This research investigates the association between body mass index (BMI) and screening rates for breast and cervical cancer using claims data from 1.3 million members of a large health insurance company. Because obesity is associated with increased cancer risk, screenings for these cancers should increase as BMI increases. However, this paper finds that the distribution of cancer screening rates by BMI take an inverted U-shape with underweight and obese members having the lowest screening rates. For cervical cancer screening, those in the target population with a BMI of 23 have the highest screening rate at 68%, while Obese Class III members have a screening rate of 50%. Those in the underweight category have a screening rate of 58%. This relationship persists even after controlling for health and demographic covariates in regression analysis. Interestingly, there is no association between BMI and BRCA (BReast CAncer gene) genetic testing. This is consistent with the narrative that stigma causes avoidance because genetic testing does not involve any assessment of a person’s body. More work must be done to determine how to increase cancer screening rates in those who may feel stigmatized due to their weight.Keywords: cancer screening, cervical cancer, breast cancer, weight stigma, avoidance of care
Procedia PDF Downloads 1931023 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
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