Search results for: self-adaptive genetic algorithms
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3420

Search results for: self-adaptive genetic algorithms

2580 A Hybrid Classical-Quantum Algorithm for Boundary Integral Equations of Scattering Theory

Authors: Damir Latypov

Abstract:

A hybrid classical-quantum algorithm to solve boundary integral equations (BIE) arising in problems of electromagnetic and acoustic scattering is proposed. The quantum speed-up is due to a Quantum Linear System Algorithm (QLSA). The original QLSA of Harrow et al. provides an exponential speed-up over the best-known classical algorithms but only in the case of sparse systems. Due to the non-local nature of integral operators, matrices arising from discretization of BIEs, are, however, dense. A QLSA for dense matrices was introduced in 2017. Its runtime as function of the system's size N is bounded by O(√Npolylog(N)). The run time of the best-known classical algorithm for an arbitrary dense matrix scales as O(N².³⁷³). Instead of exponential as in case of sparse matrices, here we have only a polynomial speed-up. Nevertheless, sufficiently high power of this polynomial, ~4.7, should make QLSA an appealing alternative. Unfortunately for the QLSA, the asymptotic separability of the Green's function leads to high compressibility of the BIEs matrices. Classical fast algorithms such as Multilevel Fast Multipole Method (MLFMM) take advantage of this fact and reduce the runtime to O(Nlog(N)), i.e., the QLSA is only quadratically faster than the MLFMM. To be truly impactful for computational electromagnetics and acoustics engineers, QLSA must provide more substantial advantage than that. We propose a computational scheme which combines elements of the classical fast algorithms with the QLSA to achieve the required performance.

Keywords: quantum linear system algorithm, boundary integral equations, dense matrices, electromagnetic scattering theory

Procedia PDF Downloads 152
2579 RNA-seq Analysis of Liver from NASH-HCC Model Mouse Treated with Streptozotocin-High Fat Diet

Authors: Bui Phuong Linh, Yuki Sakakibara, Ryuto Tanaka, Elizabeth H. Pigney, Taishi Hashiguchi

Abstract:

Non-alcoholic steatohepatitis (NASH) is a chronic liver disease, often associated with type II diabetes, which sometimes progresses to more serious conditions such as liver fibrosis and hepatocellular carcinoma (HCC). NASH has become an important health problem worldwide, buttherapeutic agents for NASH have not yet been approved, and animal models with high clinical correlation are required. TheSTAM™ mouse shows the same pathological progression as human NASH patients and has been widely used for both drug efficacy and basic research, such as lipid profiling and gut microbiota research. In this study, we analyzed the RNA-seq data of STAM™mice at each pathological stage (steatosis, steatohepatitis, liver fibrosis, and HCC) and examined the clinical correlation at the genetic level. NASH was induced in male mice by a single subcutaneous injection of 200 µg streptozotocin solution 2 days after birth and feeding with high fat dietafter 4 weeks of age. The mice were sacrificed and livers collected at 6, 8, 10, 12, 16, and 20 weeks of age. For liver samples, the left lateral lobe was snap frozen in liquid nitrogen and stored at -80˚C for RNA-seq analysis. Total RNA of the cells was isolated using RNeasy mini kit. The gene expression of the canonical pathways in NASH progression from steatosis to hepatocellular carcinoma were analyzed, such as immune system process, oxidation-reduction process, lipid metabolic process. Moreover, since it has been reported that genetic traits are involved in the development of NASH-HCC, we next analyzed the genetic mutations in the STAM™mice. The number of individuals showing mutations in Mtorinvolved in Insulin signaling increases as the disease progresses, especially in the liver cancer phase. These results indicated a clinical correlation of gene profiles in the STAM™mouse.

Keywords: steatosis, non-alcoholic steatohepatitis, fibrosis, hepatocellular carcinoma, RNA-seq

Procedia PDF Downloads 151
2578 Artificial Intelligence in Melanoma Prognosis: A Narrative Review

Authors: Shohreh Ghasemi

Abstract:

Introduction: Melanoma is a complex disease with various clinical and histopathological features that impact prognosis and treatment decisions. Traditional methods of melanoma prognosis involve manual examination and interpretation of clinical and histopathological data by dermatologists and pathologists. However, the subjective nature of these assessments can lead to inter-observer variability and suboptimal prognostic accuracy. AI, with its ability to analyze vast amounts of data and identify patterns, has emerged as a promising tool for improving melanoma prognosis. Methods: A comprehensive literature search was conducted to identify studies that employed AI techniques for melanoma prognosis. The search included databases such as PubMed and Google Scholar, using keywords such as "artificial intelligence," "melanoma," and "prognosis." Studies published between 2010 and 2022 were considered. The selected articles were critically reviewed, and relevant information was extracted. Results: The review identified various AI methodologies utilized in melanoma prognosis, including machine learning algorithms, deep learning techniques, and computer vision. These techniques have been applied to diverse data sources, such as clinical images, dermoscopy images, histopathological slides, and genetic data. Studies have demonstrated the potential of AI in accurately predicting melanoma prognosis, including survival outcomes, recurrence risk, and response to therapy. AI-based prognostic models have shown comparable or even superior performance compared to traditional methods.

Keywords: artificial intelligence, melanoma, accuracy, prognosis prediction, image analysis, personalized medicine

Procedia PDF Downloads 78
2577 Cyclocoelids (Trematoda: Echinostomata) from Gadwall Mareca strepera in the South of the Russian Far East

Authors: Konstantin S. Vainutis, Mark E. Andreev, Anastasia N. Voronova, Mikhail Yu. Shchelkanov

Abstract:

Introduction: The trematodes from the family Cyclocoelidae (cyclocoelids) belong to the superfamily Echinostomatoidea infecting air sacs and trachea of wild birds. At present, the family Cyclocoelidae comprises nine valid genera in three subfamilies: Cyclocoelinae (type taxon), Haematotrephinae, and Typhlocoelinae. To our best knowledge, in this study, molecular genetic methods were used for the first time for studying cyclocoelids from the Russian Far East. Here we provide the data on the morphology and phylogeny of cyclocoelids from gadwall from the Russian Far East. The morphological and genetic data obtained for cyclocoelids indicated the necessity to revise the previously proposed classification within the family Cyclocoelidae. Objectives: The first objective was performing the morphological study of cyclocoelids found in M. strepera from the Russian Far East. The second objective is to reconstruct the phylogenetic relationships of the studied trematodes with other cyclocoelids using the 28S gene. Material and methods: During the field studies in the Khasansky district of the Primorsky region, 21 cyclocoelids were recovered from the air sacs of a single gadwall Mareca strepera. Seven samples of cyclocoelids were overstained in alum carmine, dehydrated in a graded ethanol series, cleared in clove oil, and mounted in Canada balsam. Genomic DNA was extracted from four cyclocoelids using the alkaline lysis method HotShot. The 28S rDNA fragment was amplified using the forward primer Digl2 and the reverse primer 1500R. Results: According to morphological features (ovary intratesticular, forming a triangle with the testes), the studied worms belong to the subfamily Cyclocoelinae Stossich, 1902. In particular, the highest morphological similarity was observed in relation to the trematodes of the genus Cyclocoelum Brandes, 1892 – genital pores are pharyngeal. However, the genetic analysis has shown significant discrepancies between the trematodes studied regarding the genus Cyclocoelum. On the phylogenetic tree, these trematodes took the sister position in relation to the genus Morishitium (previously considered in the subfamily Szidatitrematinae). Conclusion: Based on the results of the morphological and genetic studies, cyclocoelids isolated from Mareca strepera are suggested to be described in the previously unknown genus and differentiated from the type genus Cyclocoelum of the type subfamily Cyclocoelinae. Considering the available molecular data, including described cyclocoelids, the family Cyclocoelidae comprises ten valid genera in the three subfamilies mentioned above.

Keywords: new species, trematoda, phylogeny, cyclocoelidae

Procedia PDF Downloads 841
2576 Genetic Algorithm for In-Theatre Military Logistics Search-and-Delivery Path Planning

Authors: Jean Berger, Mohamed Barkaoui

Abstract:

Discrete search path planning in time-constrained uncertain environment relying upon imperfect sensors is known to be hard, and current problem-solving techniques proposed so far to compute near real-time efficient path plans are mainly bounded to provide a few move solutions. A new information-theoretic –based open-loop decision model explicitly incorporating false alarm sensor readings, to solve a single agent military logistics search-and-delivery path planning problem with anticipated feedback is presented. The decision model consists in minimizing expected entropy considering anticipated possible observation outcomes over a given time horizon. The model captures uncertainty associated with observation events for all possible scenarios. Entropy represents a measure of uncertainty about the searched target location. Feedback information resulting from possible sensor observations outcomes along the projected path plan is exploited to update anticipated unit target occupancy beliefs. For the first time, a compact belief update formulation is generalized to explicitly include false positive observation events that may occur during plan execution. A novel genetic algorithm is then proposed to efficiently solve search path planning, providing near-optimal solutions for practical realistic problem instances. Given the run-time performance of the algorithm, natural extension to a closed-loop environment to progressively integrate real visit outcomes on a rolling time horizon can be easily envisioned. Computational results show the value of the approach in comparison to alternate heuristics.

Keywords: search path planning, false alarm, search-and-delivery, entropy, genetic algorithm

Procedia PDF Downloads 359
2575 Determining of the Performance of Data Mining Algorithm Determining the Influential Factors and Prediction of Ischemic Stroke: A Comparative Study in the Southeast of Iran

Authors: Y. Mehdipour, S. Ebrahimi, A. Jahanpour, F. Seyedzaei, B. Sabayan, A. Karimi, H. Amirifard

Abstract:

Ischemic stroke is one of the common reasons for disability and mortality. The fourth leading cause of death in the world and the third in some other sources. Only 1/3 of the patients with ischemic stroke fully recover, 1/3 of them end in permanent disability and 1/3 face death. Thus, the use of predictive models to predict stroke has a vital role in reducing the complications and costs related to this disease. Thus, the aim of this study was to specify the effective factors and predict ischemic stroke with the help of DM methods. The present study was a descriptive-analytic study. The population was 213 cases from among patients referring to Ali ibn Abi Talib (AS) Hospital in Zahedan. Data collection tool was a checklist with the validity and reliability confirmed. This study used DM algorithms of decision tree for modeling. Data analysis was performed using SPSS-19 and SPSS Modeler 14.2. The results of the comparison of algorithms showed that CHAID algorithm with 95.7% accuracy has the best performance. Moreover, based on the model created, factors such as anemia, diabetes mellitus, hyperlipidemia, transient ischemic attacks, coronary artery disease, and atherosclerosis are the most effective factors in stroke. Decision tree algorithms, especially CHAID algorithm, have acceptable precision and predictive ability to determine the factors affecting ischemic stroke. Thus, by creating predictive models through this algorithm, will play a significant role in decreasing the mortality and disability caused by ischemic stroke.

Keywords: data mining, ischemic stroke, decision tree, Bayesian network

Procedia PDF Downloads 172
2574 Design of an Improved Distributed Framework for Intrusion Detection System Based on Artificial Immune System and Neural Network

Authors: Yulin Rao, Zhixuan Li, Burra Venkata Durga Kumar

Abstract:

Intrusion detection refers to monitoring the actions of internal and external intruders on the system and detecting the behaviours that violate security policies in real-time. In intrusion detection, there has been much discussion about the application of neural network technology and artificial immune system (AIS). However, many solutions use static methods (signature-based and stateful protocol analysis) or centralized intrusion detection systems (CIDS), which are unsuitable for real-time intrusion detection systems that need to process large amounts of data and detect unknown intrusions. This article proposes a framework for a distributed intrusion detection system (DIDS) with multi-agents based on the concept of AIS and neural network technology to detect anomalies and intrusions. In this framework, multiple agents are assigned to each host and work together, improving the system's detection efficiency and robustness. The trainer agent in the central server of the framework uses the artificial neural network (ANN) rather than the negative selection algorithm of AIS to generate mature detectors. Mature detectors can distinguish between self-files and non-self-files after learning. Our analyzer agents use genetic algorithms to generate memory cell detectors. This kind of detector will effectively reduce false positive and false negative errors and act quickly on known intrusions.

Keywords: artificial immune system, distributed artificial intelligence, multi-agent, intrusion detection system, neural network

Procedia PDF Downloads 107
2573 Implementation and Performance Analysis of Data Encryption Standard and RSA Algorithm with Image Steganography and Audio Steganography

Authors: S. C. Sharma, Ankit Gambhir, Rajeev Arya

Abstract:

In today’s era data security is an important concern and most demanding issues because it is essential for people using online banking, e-shopping, reservations etc. The two major techniques that are used for secure communication are Cryptography and Steganography. Cryptographic algorithms scramble the data so that intruder will not able to retrieve it; however steganography covers that data in some cover file so that presence of communication is hidden. This paper presents the implementation of Ron Rivest, Adi Shamir, and Leonard Adleman (RSA) Algorithm with Image and Audio Steganography and Data Encryption Standard (DES) Algorithm with Image and Audio Steganography. The coding for both the algorithms have been done using MATLAB and its observed that these techniques performed better than individual techniques. The risk of unauthorized access is alleviated up to a certain extent by using these techniques. These techniques could be used in Banks, RAW agencies etc, where highly confidential data is transferred. Finally, the comparisons of such two techniques are also given in tabular forms.

Keywords: audio steganography, data security, DES, image steganography, intruder, RSA, steganography

Procedia PDF Downloads 287
2572 Large-scale GWAS Investigating Genetic Contributions to Queerness Will Decrease Stigma Against LGBTQ+ Communities

Authors: Paul J. McKay

Abstract:

Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.

Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)

Procedia PDF Downloads 69
2571 Effect in Animal Nutrition of Genetical Modified Plant(GM)

Authors: Abdullah Özbilgin, Oguzhan Kahraman, Mustafa Selçuk Alataş

Abstract:

Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. The land area devoted to the cultivation of genetically modified (GM) plants has increased in recent years: in 2012 such plants were grown on over 170 million hectares globally, in 28 different countries, and are at resent used by 17.3 million farmers worldwide. The majority of GM plants are used as feed material for food-producing farm animals. Despite the facts that GM plants have been used as feed for years and a number of feeding studies have proved their safety for animals, they still give rise to emotional public discussion.

Keywords: crops, genetical modified plant(GM), plant, safety

Procedia PDF Downloads 562
2570 Inbreeding Study Using Runs of Homozygosity in Nelore Beef Cattle

Authors: Priscila A. Bernardes, Marcos E. Buzanskas, Luciana C. A. Regitano, Ricardo V. Ventura, Danisio P. Munari

Abstract:

The best linear unbiased predictor (BLUP) is a method commonly used in genetic evaluations of breeding programs. However, this approach can lead to higher inbreeding coefficients in the population due to the intensive use of few bulls with higher genetic potential, usually presenting some degree of relatedness. High levels of inbreeding are associated to low genetic viability, fertility, and performance for some economically important traits and therefore, should be constantly monitored. Unreliable pedigree data can also lead to misleading results. Genomic information (i.e., single nucleotide polymorphism – SNP) is a useful tool to estimate the inbreeding coefficient. Runs of homozygosity have been used to evaluate homozygous segments inherited due to direct or collateral inbreeding and allows inferring population selection history. This study aimed to evaluate runs of homozygosity (ROH) and inbreeding in a population of Nelore beef cattle. A total of 814 animals were genotyped with the Illumina BovineHD BeadChip and the quality control was carried out excluding SNPs located in non-autosomal regions, with unknown position, with a p-value in the Hardy-Weinberg equilibrium lower than 10⁻⁵, call rate lower than 0.98 and samples with the call rate lower than 0.90. After the quality control, 809 animals and 509,107 SNPs remained for analyses. For the ROH analysis, PLINK software was used considering segments with at least 50 SNPs with a minimum length of 1Mb in each animal. The inbreeding coefficient was calculated using the ratio between the sum of all ROH sizes and the size of the whole genome (2,548,724kb). A total of 25.711 ROH were observed, presenting mean, median, minimum, and maximum length of 3.34Mb, 2Mb, 1Mb, and 80.8Mb, respectively. The number of SNPs present in ROH segments varied from 50 to 14.954. The longest ROH length was observed in one animal, which presented a length of 634Mb (24.88% of the genome). Four bulls were among the 10 animals with the longest extension of ROH, presenting 11% of ROH with length higher than 10Mb. Segments longer than 10Mb indicate recent inbreeding. Therefore, the results indicate an intensive use of few sires in the studied data. The distribution of ROH along the chromosomes showed that chromosomes 5 and 6 presented a large number of segments when compared to other chromosomes. The mean, median, minimum, and maximum inbreeding coefficients were 5.84%, 5.40%, 0.00%, and 24.88%, respectively. Although the mean inbreeding was considered low, the ROH indicates a recent and intensive use of few sires, which should be avoided for the genetic progress of breed.

Keywords: autozygosity, Bos taurus indicus, genomic information, single nucleotide polymorphism

Procedia PDF Downloads 148
2569 Heart Failure Identification and Progression by Classifying Cardiac Patients

Authors: Muhammad Saqlain, Nazar Abbas Saqib, Muazzam A. Khan

Abstract:

Heart Failure (HF) has become the major health problem in our society. The prevalence of HF has increased as the patient’s ages and it is the major cause of the high mortality rate in adults. A successful identification and progression of HF can be helpful to reduce the individual and social burden from this syndrome. In this study, we use a real data set of cardiac patients to propose a classification model for the identification and progression of HF. The data set has divided into three age groups, namely young, adult, and old and then each age group have further classified into four classes according to patient’s current physical condition. Contemporary Data Mining classification algorithms have been applied to each individual class of every age group to identify the HF. Decision Tree (DT) gives the highest accuracy of 90% and outperform all other algorithms. Our model accurately diagnoses different stages of HF for each age group and it can be very useful for the early prediction of HF.

Keywords: decision tree, heart failure, data mining, classification model

Procedia PDF Downloads 402
2568 Using LTE-Sim in New Hanover Decision Algorithm for 2-Tier Macrocell-Femtocell LTE Network

Authors: Umar D. M., Aminu A. M., Izaddeen K. Y.

Abstract:

Deployments of mini macrocell base stations also referred to as femtocells, improve the quality of service of indoor and outdoor users. Nevertheless, mobility management remains a key issue with regards to their deployment. This paper is leaned towards this issue, with an in-depth focus on the most important aspect of mobility management -handover. In handover management, making a handover decision in the LTE two-tier macrocell femtocell network is a crucial research area. Decision algorithms in this research are classified and comparatively analyzed according to received signal strength, user equipment speed, cost function, and interference. However, it was observed that most of the discussed decision algorithms fail to consider cell selection with hybrid access policy in a single macrocell multiple femtocell scenario, another observation was a majority of these algorithms lack the incorporation of user equipment residence parameter. Not including this parameter boosts the number of unnecessary handover occurrence. To deal with these issues, a sophisticated handover decision algorithm is proposed. The proposed algorithm considers the user’s velocity, received signal strength, residence time, as well as the femtocell base station’s access policy. Simulation results have shown that the proposed algorithm reduces the number of unnecessary handovers when compared to conventional received signal strength-based handover decision algorithm.

Keywords: user-equipment, radio signal service, long term evolution, mobility management, handoff

Procedia PDF Downloads 123
2567 Genetic and Environmental Variation in Reproductive and Lactational Performance of Holstein Cattle

Authors: Ashraf Ward

Abstract:

Effect of calving interval on 305 day milk yield for first three lactations was studied in order to increase efficiency of selection schemes and to more efficiently manage Holstein cows that have been raised on small farms in Libya. Results obtained by processing data of 1476 cows, managed in 935 small scale farms, pointed out that current calving interval significantly affects on milk production for first three lactations (p<0.05). Preceding calving interval affected 305 day milk yield (p<0.05) in second lactation only. Linear regression model accounted for 20-25 % of the total variance of 305 day milk yield. Extension of calving interval over 420, 430, 450 days for first, second and third lactations respectively, did not increase milk production when converted to 305 day lactation. Stochastic relations between calving interval and calving age and month are moderated. Values of Pierson’s correlation coefficients ranged 0.38 to 0.69. Adjustment of milk production in order to reduce effect of calving interval on total phenotypic variance of milk yield is valid for first lactation only. Adjustment of 305 day milk yield for second and third lactations in order to reduce effects of factors “calving age and month” brings about, at the same time, elimination of calving interval effect.

Keywords: milk yield, Holstien, non genetic, calving

Procedia PDF Downloads 417
2566 Transformers in Gene Expression-Based Classification

Authors: Babak Forouraghi

Abstract:

A genetic circuit is a collection of interacting genes and proteins that enable individual cells to implement and perform vital biological functions such as cell division, growth, death, and signaling. In cell engineering, synthetic gene circuits are engineered networks of genes specifically designed to implement functionalities that are not evolved by nature. These engineered networks enable scientists to tackle complex problems such as engineering cells to produce therapeutics within the patient's body, altering T cells to target cancer-related antigens for treatment, improving antibody production using engineered cells, tissue engineering, and production of genetically modified plants and livestock. Construction of computational models to realize genetic circuits is an especially challenging task since it requires the discovery of flow of genetic information in complex biological systems. Building synthetic biological models is also a time-consuming process with relatively low prediction accuracy for highly complex genetic circuits. The primary goal of this study was to investigate the utility of a pre-trained bidirectional encoder transformer that can accurately predict gene expressions in genetic circuit designs. The main reason behind using transformers is their innate ability (attention mechanism) to take account of the semantic context present in long DNA chains that are heavily dependent on spatial representation of their constituent genes. Previous approaches to gene circuit design, such as CNN and RNN architectures, are unable to capture semantic dependencies in long contexts as required in most real-world applications of synthetic biology. For instance, RNN models (LSTM, GRU), although able to learn long-term dependencies, greatly suffer from vanishing gradient and low-efficiency problem when they sequentially process past states and compresses contextual information into a bottleneck with long input sequences. In other words, these architectures are not equipped with the necessary attention mechanisms to follow a long chain of genes with thousands of tokens. To address the above-mentioned limitations of previous approaches, a transformer model was built in this work as a variation to the existing DNA Bidirectional Encoder Representations from Transformers (DNABERT) model. It is shown that the proposed transformer is capable of capturing contextual information from long input sequences with attention mechanism. In a previous work on genetic circuit design, the traditional approaches to classification and regression, such as Random Forrest, Support Vector Machine, and Artificial Neural Networks, were able to achieve reasonably high R2 accuracy levels of 0.95 to 0.97. However, the transformer model utilized in this work with its attention-based mechanism, was able to achieve a perfect accuracy level of 100%. Further, it is demonstrated that the efficiency of the transformer-based gene expression classifier is not dependent on presence of large amounts of training examples, which may be difficult to compile in many real-world gene circuit designs.

Keywords: transformers, generative ai, gene expression design, classification

Procedia PDF Downloads 59
2565 Synthetic Classicism: A Machine Learning Approach to the Recognition and Design of Circular Pavilions

Authors: Federico Garrido, Mostafa El Hayani, Ahmed Shams

Abstract:

The exploration of the potential of artificial intelligence (AI) in architecture is still embryonic, however, its latent capacity to change design disciplines is significant. 'Synthetic Classism' is a research project that questions the underlying aspects of classically organized architecture not just in aesthetic terms but also from a geometrical and morphological point of view, intending to generate new architectural information using historical examples as source material. The main aim of this paper is to explore the uses of artificial intelligence and machine learning algorithms in architectural design while creating a coherent narrative to be contained within a design process. The purpose is twofold: on one hand, to develop and train machine learning algorithms to produce architectural information of small pavilions and on the other, to synthesize new information from previous architectural drawings. These algorithms intend to 'interpret' graphical information from each pavilion and then generate new information from it. The procedure, once these algorithms are trained, is the following: parting from a line profile, a synthetic 'front view' of a pavilion is generated, then using it as a source material, an isometric view is created from it, and finally, a top view is produced. Thanks to GAN algorithms, it is also possible to generate Front and Isometric views without any graphical input as well. The final intention of the research is to produce isometric views out of historical information, such as the pavilions from Sebastiano Serlio, James Gibbs, or John Soane. The idea is to create and interpret new information not just in terms of historical reconstruction but also to explore AI as a novel tool in the narrative of a creative design process. This research also challenges the idea of the role of algorithmic design associated with efficiency or fitness while embracing the possibility of a creative collaboration between artificial intelligence and a human designer. Hence the double feature of this research, both analytical and creative, first by synthesizing images based on a given dataset and then by generating new architectural information from historical references. We find that the possibility of creatively understand and manipulate historic (and synthetic) information will be a key feature in future innovative design processes. Finally, the main question that we propose is whether an AI could be used not just to create an original and innovative group of simple buildings but also to explore the possibility of fostering a novel architectural sensibility grounded on the specificities on the architectural dataset, either historic, human-made or synthetic.

Keywords: architecture, central pavilions, classicism, machine learning

Procedia PDF Downloads 138
2564 A New Method to Winner Determination for Economic Resource Allocation in Cloud Computing Systems

Authors: Ebrahim Behrouzian Nejad, Rezvan Alipoor Sabzevari

Abstract:

Cloud computing systems are large-scale distributed systems, so that they focus more on large scale resource sharing, cooperation of several organizations and their use in new applications. One of the main challenges in this realm is resource allocation. There are many different ways to resource allocation in cloud computing. One of the common methods to resource allocation are economic methods. Among these methods, the auction-based method has greater prominence compared with Fixed-Price method. The double combinatorial auction is one of the proper ways of resource allocation in cloud computing. This method includes two phases: winner determination and resource allocation. In this paper a new method has been presented to determine winner in double combinatorial auction-based resource allocation using Imperialist Competitive Algorithm (ICA). The experimental results show that in our new proposed the number of winner users is higher than genetic algorithm. On other hand, in proposed algorithm, the number of winner providers is higher in genetic algorithm.

Keywords: cloud computing, resource allocation, double auction, winner determination

Procedia PDF Downloads 357
2563 The Whale Optimization Algorithm and Its Implementation in MATLAB

Authors: S. Adhirai, R. P. Mahapatra, Paramjit Singh

Abstract:

Optimization is an important tool in making decisions and in analysing physical systems. In mathematical terms, an optimization problem is the problem of finding the best solution from among the set of all feasible solutions. The paper discusses the Whale Optimization Algorithm (WOA), and its applications in different fields. The algorithm is tested using MATLAB because of its unique and powerful features. The benchmark functions used in WOA algorithm are grouped as: unimodal (F1-F7), multimodal (F8-F13), and fixed-dimension multimodal (F14-F23). Out of these benchmark functions, we show the experimental results for F7, F11, and F19 for different number of iterations. The search space and objective space for the selected function are drawn, and finally, the best solution as well as the best optimal value of the objective function found by WOA is presented. The algorithmic results demonstrate that the WOA performs better than the state-of-the-art meta-heuristic and conventional algorithms.

Keywords: optimization, optimal value, objective function, optimization problems, meta-heuristic optimization algorithms, Whale Optimization Algorithm, implementation, MATLAB

Procedia PDF Downloads 369
2562 Fault-Tolerant Control Study and Classification: Case Study of a Hydraulic-Press Model Simulated in Real-Time

Authors: Jorge Rodriguez-Guerra, Carlos Calleja, Aron Pujana, Iker Elorza, Ana Maria Macarulla

Abstract:

Society demands more reliable manufacturing processes capable of producing high quality products in shorter production cycles. New control algorithms have been studied to satisfy this paradigm, in which Fault-Tolerant Control (FTC) plays a significant role. It is suitable to detect, isolate and adapt a system when a harmful or faulty situation appears. In this paper, a general overview about FTC characteristics are exposed; highlighting the properties a system must ensure to be considered faultless. In addition, a research to identify which are the main FTC techniques and a classification based on their characteristics is presented in two main groups: Active Fault-Tolerant Controllers (AFTCs) and Passive Fault-Tolerant Controllers (PFTCs). AFTC encompasses the techniques capable of re-configuring the process control algorithm after the fault has been detected, while PFTC comprehends the algorithms robust enough to bypass the fault without further modifications. The mentioned re-configuration requires two stages, one focused on detection, isolation and identification of the fault source and the other one in charge of re-designing the control algorithm by two approaches: fault accommodation and control re-design. From the algorithms studied, one has been selected and applied to a case study based on an industrial hydraulic-press. The developed model has been embedded under a real-time validation platform, which allows testing the FTC algorithms and analyse how the system will respond when a fault arises in similar conditions as a machine will have on factory. One AFTC approach has been picked up as the methodology the system will follow in the fault recovery process. In a first instance, the fault will be detected, isolated and identified by means of a neural network. In a second instance, the control algorithm will be re-configured to overcome the fault and continue working without human interaction.

Keywords: fault-tolerant control, electro-hydraulic actuator, fault detection and isolation, control re-design, real-time

Procedia PDF Downloads 175
2561 A Hybrid Distributed Algorithm for Solving Job Shop Scheduling Problem

Authors: Aydin Teymourifar, Gurkan Ozturk

Abstract:

In this paper, a distributed hybrid algorithm is proposed for solving the job shop scheduling problem. The suggested method executes different artificial neural networks, heuristics and meta-heuristics simultaneously on more than one machine. The neural networks are used to control the constraints of the problem while the meta-heuristics search the global space and the heuristics are used to prevent the premature convergence. To attain an efficient distributed intelligent method for solving big and distributed job shop scheduling problems, Apache Spark and Hadoop frameworks are used. In the algorithm implementation and design steps, new approaches are applied. Comparison between the proposed algorithm and other efficient algorithms from the literature shows its efficiency, which is able to solve large size problems in short time.

Keywords: distributed algorithms, Apache Spark, Hadoop, job shop scheduling, neural network

Procedia PDF Downloads 386
2560 Genetic Variation of Lactoferrin Gene and Its Association with Productive Traits in Egyptian Goats

Authors: Othman E. Othman, Hassan R. Darwish, Amira M. Nowier

Abstract:

Lactoferrin (LF) is a multifunctional protein involved in economically production traits like milk protein composition and skeletal structure in small ruminants including sheep and goat. So, LF gene - with its genetic polymorphisms associated with production traits - is considered a candidate genetic marker used in marker-assisted selection in goats. This study aimed to identify the different alleles and genotypes of this gene in three Egyptian goat breeds using PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing. Genomic DNA was extracted from 120 animals belonging to Barki, Zaraibi, and Damascus goat breeds. Using specific primers, PCR amplified 247-bp fragments from exon 2 of LF goat gene. The PCR products were subjected to Single-Strand Conformation Polymorphism (SSCP) technique. The results showed the presence of two genotypes GG and AG in the tested animals. The frequencies of both genotypes varied among the three tested breeds with the highest frequencies of GG genotype in all tested goat breeds. The sequence analysis of PCR products representing these two detected genotypes declared the presence of an SNP (single nucleotide polymorphisms) substitution (G/A) among G and A alleles of this gene. The association between different LF genotypes and milk composition as well as body measurement was estimated. The comparison showed that the animals possess AG genotypes are superior over those with GG genotypes for different parameters of milk protein compositions and skeletal structures. This finding declared that allele A of LF gene is considered the promising marker for the productive traits in goat. In conclusion, the Egyptian goat breeds will be needed to enhance their milk protein composition and growth trait parameters through the increasing of allele A frequency in their herds depending on the superior production traits of this allele in goats.

Keywords: lLactoferrin gene, PCR-SSCP, SNPs, Egyptian goat

Procedia PDF Downloads 152
2559 Development of Transgenic Tomato Immunity to Pepino Mosaic Virus and Tomato Yellow Leaf Curl Virus by Gene Silencing Approach

Authors: D. Leibman, D. Wolf, A. Gal-On

Abstract:

Viral diseases of tomato crops result in heavy yield losses and may even jeopardize the production of these crops. Classical tomato breeding for disease resistance against Tomato yellow leaf curl virus (TYLCV), leads to partial resistance associated with a number of recessive genes. To author’s best knowledge Pepino mosaic virus (PepMV) genetic resistance is not yet available. The generation of viral resistance by means of genetic engineering was reported and implemented for many crops, including tomato. Transgenic resistance against viruses is based, in most cases, on Post Transcriptional Gene Silencing (PTGS), an endogenous mechanism which destroys the virus genome. In this work, we developed immunity against PepMV and TYLCV in a tomato based on a PTGS mechanism. Tomato plants were transformed with a hairpin-construct-expressed transgene-derived double-strand-RNA (tr-dsRNA). In the case of PepMV, the binary construct harbored three consecutive fragments of the replicase gene from three different PepMV strains (Italian, Spanish and American), to provide resistance against a range of virus strains. In the case of TYLCV, the binary vector included three consecutive fragments of the IR, V2 and C2 viral genes constructed in a hairpin configuration. Selected transgenic lines (T0) showed a high accumulation of transgene siRNA of 21-24 bases, and T1 transgenic lines showed complete immunity to PepMV and TYLCV. Graft inoculation displayed immunity of the transgenic scion against PepMV and TYLCV. The study presents the engineering of resistance in tomato against two serious diseases, which will help in the production of high-quality tomato. However, unfortunately, these resistant plants have not been implemented due to public ignorance and opposition against breeding by genetic engineering.

Keywords: PepMV, PTGS, TYLCV, tr-dsRNA

Procedia PDF Downloads 132
2558 An Evolutionary Approach for Automated Optimization and Design of Vivaldi Antennas

Authors: Sahithi Yarlagadda

Abstract:

The design of antenna is constrained by mathematical and geometrical parameters. Though there are diverse antenna structures with wide range of feeds yet, there are many geometries to be tried, which cannot be customized into predefined computational methods. The antenna design and optimization qualify to apply evolutionary algorithmic approach since the antenna parameters weights dependent on geometric characteristics directly. The evolutionary algorithm can be explained simply for a given quality function to be maximized. We can randomly create a set of candidate solutions, elements of the function's domain, and apply the quality function as an abstract fitness measure. Based on this fitness, some of the better candidates are chosen to seed the next generation by applying recombination and permutation to them. In conventional approach, the quality function is unaltered for any iteration. But the antenna parameters and geometries are wide to fit into single function. So, the weight coefficients are obtained for all possible antenna electrical parameters and geometries; the variation is learnt by mining the data obtained for an optimized algorithm. The weight and covariant coefficients of corresponding parameters are logged for learning and future use as datasets. This paper drafts an approach to obtain the requirements to study and methodize the evolutionary approach to automated antenna design for our past work on Vivaldi antenna as test candidate. The antenna parameters like gain, directivity, etc. are directly caged by geometries, materials, and dimensions. The design equations are to be noted here and valuated for all possible conditions to get maxima and minima for given frequency band. The boundary conditions are thus obtained prior to implementation, easing the optimization. The implementation mainly aimed to study the practical computational, processing, and design complexities that incur while simulations. HFSS is chosen for simulations and results. MATLAB is used to generate the computations, combinations, and data logging. MATLAB is also used to apply machine learning algorithms and plotting the data to design the algorithm. The number of combinations is to be tested manually, so HFSS API is used to call HFSS functions from MATLAB itself. MATLAB parallel processing tool box is used to run multiple simulations in parallel. The aim is to develop an add-in to antenna design software like HFSS, CSTor, a standalone application to optimize pre-identified common parameters of wide range of antennas available. In this paper, we have used MATLAB to calculate Vivaldi antenna parameters like slot line characteristic impedance, impedance of stripline, slot line width, flare aperture size, dielectric and K means, and Hamming window are applied to obtain the best test parameters. HFSS API is used to calculate the radiation, bandwidth, directivity, and efficiency, and data is logged for applying the Evolutionary genetic algorithm in MATLAB. The paper demonstrates the computational weights and Machine Learning approach for automated antenna optimizing for Vivaldi antenna.

Keywords: machine learning, Vivaldi, evolutionary algorithm, genetic algorithm

Procedia PDF Downloads 108
2557 Dynamic Bandwidth Allocation in Fiber-Wireless (FiWi) Networks

Authors: Eman I. Raslan, Haitham S. Hamza, Reda A. El-Khoribi

Abstract:

Fiber-Wireless (FiWi) networks are a promising candidate for future broadband access networks. These networks combine the optical network as the back end where different passive optical network (PON) technologies are realized and the wireless network as the front end where different wireless technologies are adopted, e.g. LTE, WiMAX, Wi-Fi, and Wireless Mesh Networks (WMNs). The convergence of both optical and wireless technologies requires designing architectures with robust efficient and effective bandwidth allocation schemes. Different bandwidth allocation algorithms have been proposed in FiWi networks aiming to enhance the different segments of FiWi networks including wireless and optical subnetworks. In this survey, we focus on the differentiating between the different bandwidth allocation algorithms according to their enhancement segment of FiWi networks. We classify these techniques into wireless, optical and Hybrid bandwidth allocation techniques.

Keywords: fiber-wireless (FiWi), dynamic bandwidth allocation (DBA), passive optical networks (PON), media access control (MAC)

Procedia PDF Downloads 530
2556 A Fast Optimizer for Large-scale Fulfillment Planning based on Genetic Algorithm

Authors: Choonoh Lee, Seyeon Park, Dongyun Kang, Jaehyeong Choi, Soojee Kim, Younggeun Kim

Abstract:

Market Kurly is the first South Korean online grocery retailer that guarantees same-day, overnight shipping. More than 1.6 million customers place an average of 4.7 million orders and add 3 to 14 products into a cart per month. The company has sold almost 30,000 kinds of various products in the past 6 months, including food items, cosmetics, kitchenware, toys for kids/pets, and even flowers. The company is operating and expanding multiple dry, cold, and frozen fulfillment centers in order to store and ship these products. Due to the scale and complexity of the fulfillment, pick-pack-ship processes are planned and operated in batches, and thus, the planning that decides the batch of the customers’ orders is a critical factor in overall productivity. This paper introduces a metaheuristic optimization method that reduces the complexity of batch processing in a fulfillment center. The method is an iterative genetic algorithm with heuristic creation and evolution strategies; it aims to group similar orders into pick-pack-ship batches to minimize the total number of distinct products. With a well-designed approach to create initial genes, the method produces streamlined plans, up to 13.5% less complex than the actual plans carried out in the company’s fulfillment centers in the previous months. Furthermore, our digital-twin simulations show that the optimized plans can reduce 3% of operation time for packing, which is the most complex and time-consuming task in the process. The optimization method implements a multithreading design on the Spring framework to support the company’s warehouse management systems in near real-time, finding a solution for 4,000 orders within 5 to 7 seconds on an AWS c5.2xlarge instance.

Keywords: fulfillment planning, genetic algorithm, online grocery retail, optimization

Procedia PDF Downloads 82
2555 On the Utility of Bidirectional Transformers in Gene Expression-Based Classification

Authors: Babak Forouraghi

Abstract:

A genetic circuit is a collection of interacting genes and proteins that enable individual cells to implement and perform vital biological functions such as cell division, growth, death, and signaling. In cell engineering, synthetic gene circuits are engineered networks of genes specifically designed to implement functionalities that are not evolved by nature. These engineered networks enable scientists to tackle complex problems such as engineering cells to produce therapeutics within the patient's body, altering T cells to target cancer-related antigens for treatment, improving antibody production using engineered cells, tissue engineering, and production of genetically modified plants and livestock. Construction of computational models to realize genetic circuits is an especially challenging task since it requires the discovery of the flow of genetic information in complex biological systems. Building synthetic biological models is also a time-consuming process with relatively low prediction accuracy for highly complex genetic circuits. The primary goal of this study was to investigate the utility of a pre-trained bidirectional encoder transformer that can accurately predict gene expressions in genetic circuit designs. The main reason behind using transformers is their innate ability (attention mechanism) to take account of the semantic context present in long DNA chains that are heavily dependent on the spatial representation of their constituent genes. Previous approaches to gene circuit design, such as CNN and RNN architectures, are unable to capture semantic dependencies in long contexts, as required in most real-world applications of synthetic biology. For instance, RNN models (LSTM, GRU), although able to learn long-term dependencies, greatly suffer from vanishing gradient and low-efficiency problem when they sequentially process past states and compresses contextual information into a bottleneck with long input sequences. In other words, these architectures are not equipped with the necessary attention mechanisms to follow a long chain of genes with thousands of tokens. To address the above-mentioned limitations, a transformer model was built in this work as a variation to the existing DNA Bidirectional Encoder Representations from Transformers (DNABERT) model. It is shown that the proposed transformer is capable of capturing contextual information from long input sequences with an attention mechanism. In previous works on genetic circuit design, the traditional approaches to classification and regression, such as Random Forrest, Support Vector Machine, and Artificial Neural Networks, were able to achieve reasonably high R2 accuracy levels of 0.95 to 0.97. However, the transformer model utilized in this work, with its attention-based mechanism, was able to achieve a perfect accuracy level of 100%. Further, it is demonstrated that the efficiency of the transformer-based gene expression classifier is not dependent on the presence of large amounts of training examples, which may be difficult to compile in many real-world gene circuit designs.

Keywords: machine learning, classification and regression, gene circuit design, bidirectional transformers

Procedia PDF Downloads 59
2554 Opportunities Forensics Biology in the Study of Sperm Traces after Washing

Authors: Saule Musabekova

Abstract:

Achievements of modern science, especially genetics, led to a sharp intensification of the process of proof. Footprints, subjected to destruction-related cause-effect relationships, are sources of evidentiary information on the circumstances it was committed and the persons committed it. Currently, with the overall growth in the number of crimes against sexual inviolability or sexual freedom, and increased the proportion of the crimes where to destroy the traces of the crime perpetrators different detergents are used. A characteristic feature of modern synthetic detergents is the presence of biological additives - enzymes that break down and gradually destroy stains of protein origin. To study the nature of the influence of modern washing powders semen stains were put kinds of fabrics and prepared in advance stained sperm of men of different groups according to ABO system. For research washing machines of known manufacturers of household appliances have been used with different production characteristics, in which the test was performed and the washing of various kinds of fabrics with semen stains. After washing the tissue with spots were tested for the presence of semen stains visually preserved, establishing in them surviving sperm or their elements, we studied the possibilities of the group diagnostics on the system ABO or molecular-genetic identification. The subsequent study of these spots by morphological method showed that 100% detection of morphological sperm cells - sperm is not possible. As a result, in 30% of further studies of these traces gave weakly positive results are obtained with an immunoassay test PSA SEMIQUANT. It is noted that the percentage of positive results obtained in the study of semen traces disposed on natural fiber fabrics is higher than sperm traces disposed on synthetic fabrics. Study traces of semen, confirmed by PSA - test 3% possible to establish a genetic profile of the person and obtain any positive findings of the molecular genetic examination. In other cases, it was not a sufficient amount of material for DNA identification. Results of research and the practical expert study found, in most cases, the conclusions of the identification of sperm traces do not seem possible. This a consequence of exposure to semen traces on the material evidence of biological additives contained in modern detergents and further the influence of other effective methods. Resulting in DNA has undergone irreversible changes (degradation) under the influence of external human factors. Using molecular genetic methods can partially solve the problems arising in the study of unlaundered physical evidence for the disclosure and investigation of crimes.

Keywords: study of sperm, modern detergents, washing powders, forensic medicine

Procedia PDF Downloads 297
2553 A Contrastive Analysis on Hausa and Yoruba Adjectival Phrases

Authors: Abubakar Maikudi

Abstract:

Contrastive analysis is the method of analyzing the structure of any two languages with a view to determining the possible differential aspects of their systems irrespective of their genetic affinity or level of development. Contrastive analysis of two languages becomes useful when it is adequately describing the sound structure and grammatical structure of two languages, with comparative statements giving emphasis to the compatible items in the two systems. This research work uses comparative analysis theory to analyze adjective and adjectival phrases in Hausa and Yorùbá languages. The Hausa language belongs to the Chadic family of the Afro-Asiatic phylum, while the Yorùbá language belongs to the Benue-Congo family of the Niger-Congo phylum. The findings of the research clearly demonstrated that there are significant similarities in the adjectival phrase constructions of the two languages, i.e., nominal (Head) and post-nominal (Post-Head) use of the adjective, predicative function of an adjective, use of the reduplicative adjective, use of the comparative and superlative adjective, etc. However, there are dissimilarities in the adjectival phrase of the two languages in gender/number agreement and pre-nominal (Post-Head) use of adjectives.

Keywords: genetic affinity, contrastive analysis, phylum, pre-head, post-head

Procedia PDF Downloads 229
2552 Satellite Imagery Classification Based on Deep Convolution Network

Authors: Zhong Ma, Zhuping Wang, Congxin Liu, Xiangzeng Liu

Abstract:

Satellite imagery classification is a challenging problem with many practical applications. In this paper, we designed a deep convolution neural network (DCNN) to classify the satellite imagery. The contributions of this paper are twofold — First, to cope with the large-scale variance in the satellite image, we introduced the inception module, which has multiple filters with different size at the same level, as the building block to build our DCNN model. Second, we proposed a genetic algorithm based method to efficiently search the best hyper-parameters of the DCNN in a large search space. The proposed method is evaluated on the benchmark database. The results of the proposed hyper-parameters search method show it will guide the search towards better regions of the parameter space. Based on the found hyper-parameters, we built our DCNN models, and evaluated its performance on satellite imagery classification, the results show the classification accuracy of proposed models outperform the state of the art method.

Keywords: satellite imagery classification, deep convolution network, genetic algorithm, hyper-parameter optimization

Procedia PDF Downloads 299
2551 Association of Nuclear – Mitochondrial Epistasis with BMI in Type 1 Diabetes Mellitus Patients

Authors: Agnieszka H. Ludwig-Slomczynska, Michal T. Seweryn, Przemyslaw Kapusta, Ewelina Pitera, Katarzyna Cyganek, Urszula Mantaj, Lucja Dobrucka, Ewa Wender-Ozegowska, Maciej T. Malecki, Pawel Wolkow

Abstract:

Obesity results from an imbalance between energy intake and its expenditure. Genome-Wide Association Study (GWAS) analyses have led to discovery of only about 100 variants influencing body mass index (BMI), which explain only a small portion of genetic variability. Analysis of gene epistasis gives a chance to discover another part. Since it was shown that interaction and communication between nuclear and mitochondrial genome are indispensable for normal cell function, we have looked for epistatic interactions between the two genomes to find their correlation with BMI. Methods: The analysis was performed on 366 T1DM patients using Illumina Infinium OmniExpressExome-8 chip and followed by imputation on Michigan Imputation Server. Only genes which influence mitochondrial functioning (listed in Human MitoCarta 2.0) were included in the analysis – variants of nuclear origin (MAF > 5%) in 1140 genes and 42 mitochondrial variants (MAF > 1%). Gene expression analysis was performed on GTex data. Association analysis between genetic variants and BMI was performed with the use of Linear Mixed Models as implemented in the package 'GENESIS' in R. Analysis of association between mRNA expression and BMI was performed with the use of linear models and standard significance tests in R. Results: Among variants involved in epistasis between mitochondria and nucleus we have identified one in mitochondrial transcription factor, TFB2M (rs6701836). It interacted with mitochondrial variants localized to MT-RNR1 (p=0.0004, MAF=15%), MT-ND2 (p=0.07, MAF=5%) and MT-ND4 (p=0.01, MAF=1.1%). Analysis of the interaction between nuclear variant rs6701836 (nuc) and rs3021088 localized to MT-ND2 mitochondrial gene (mito) has shown that the combination of the two led to BMI decrease (p=0.024). Each of the variants on its own does not correlate with higher BMI [p(nuc)=0.856, p(mito)=0.116)]. Although rs6701836 is intronic, it influences gene expression in the thyroid (p=0.000037). rs3021088 is a missense variant that leads to alanine to threonine substitution in the MT-ND2 gene which belongs to complex I of the electron transport chain. The analysis of the influence of genetic variants on gene expression has confirmed the trend explained above – the interaction of the two genes leads to BMI decrease (p=0.0308). Each of the mRNAs on its own is associated with higher BMI (p(mito)=0.0244 and p(nuc)=0.0269). Conclusıons: Our results show that nuclear-mitochondrial epistasis can influence BMI in T1DM patients. The correlation between transcription factor expression and mitochondrial genetic variants will be subject to further analysis.

Keywords: body mass index, epistasis, mitochondria, type 1 diabetes

Procedia PDF Downloads 173