Search results for: mutation detection

Authors: Muhammad Ammar, Talha Ali, Abdul Basit, Bakhtawar Rajput, Zobia Sohail

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Music note detection is an area of study for the past few years and has its own influence in music file generation from sheet music. We proposed a method to detect music notes on sheet music using basic thresholding and blob detection. Subsequently, we created a notes dictionary using a semi-supervised learning approach. After notes detection, for each test image, the new symbols are added to the dictionary. This makes the notes detection semi-automatic. The experiments are done on images from a dataset and also on the captured images. The developed approach showed almost 100% accuracy on the dataset images, whereas varying results have been seen on captured images.

Keywords: music note, sheet music, optical music recognition, blob detection, thresholding, dictionary generation

Procedia PDF Downloads 178

Authors: Hwan-Jun Choi, Sung-Bok Choi, Hyoung-Kyu Song

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Recently, among the MIMO-OFDM detection techniques, a lot of papers suggested V-BLAST scheme which can achieve high data rate. Therefore, the signal detection of MIMOOFDM system is important issue. In this paper, efficient iterative VBLAST detection technique is proposed in wireless communication system. The proposed scheme adjusts the number of candidate symbol and iterative scheme based on channel state. According to the simulation result, the proposed scheme has better BER performance than conventional schemes and similar BER performance of the QRD-M with iterative scheme. Moreover complexity of proposed scheme has 50.6 % less than complexity of QRD-M detection with iterative scheme. Therefore the proposed detection scheme can be efficiently used in wireless communication.

Keywords: MIMO-OFDM, V-BLAST, QR-decomposition, QRDM, DFE, iterative scheme, channel condition

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Authors: Majed Sanan, Mohammad Rammal, Wassim Rammal

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Today, security is a major concern. Intrusion Detection, Prevention Systems and Honeypot can be used to moderate attacks. Many researchers have proposed to use many IDSs ((Intrusion Detection System) time to time. Some of these IDS’s combine their features of two or more IDSs which are called Hybrid Intrusion Detection Systems. Most of the researchers combine the features of Signature based detection methodology and Anomaly based detection methodology. For a signature based IDS, if an attacker attacks slowly and in organized way, the attack may go undetected through the IDS, as signatures include factors based on duration of the events but the actions of attacker do not match. Sometimes, for an unknown attack there is no signature updated or an attacker attack in the mean time when the database is updating. Thus, signature-based IDS fail to detect unknown attacks. Anomaly based IDS suffer from many false-positive readings. So there is a need to hybridize those IDS which can overcome the shortcomings of each other. In this paper we propose a new approach to IDS (Intrusion Detection System) which is more efficient than the traditional IDS (Intrusion Detection System). The IDS is based on Honeypot Technology and Anomaly based Detection Methodology. We have designed Architecture for the IDS in a packet tracer and then implemented it in real time. We have discussed experimental results performed: both the Honeypot and Anomaly based IDS have some shortcomings but if we hybridized these two technologies, the newly proposed Hybrid Intrusion Detection System (HIDS) is capable enough to overcome these shortcomings with much enhanced performance. In this paper, we present a modified Hybrid Intrusion Detection System (HIDS) that combines the positive features of two different detection methodologies - Honeypot methodology and anomaly based intrusion detection methodology. In the experiment, we ran both the Intrusion Detection System individually first and then together and recorded the data from time to time. From the data we can conclude that the resulting IDS are much better in detecting intrusions from the existing IDSs.

Keywords: security, intrusion detection, intrusion prevention, honeypot, anomaly-based detection, signature-based detection, cloud computing, kfsensor

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Authors: Gail Louw, Helena Boshoff, Taeksun Song, Clifton Barry

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Drug resistance in Mycobacterium tuberculosis is primarily attributed to mutations in target genes. These mutations incur a fitness cost and result in bacterial generations that are less fit, which subsequently acquire compensatory mutations to restore fitness. We hypothesize that mutations in specific drug target genes influence bacterial metabolism and cellular function, which affects its ability to develop subsequent resistance to additional agents. We aim to determine whether the sequential acquisition of drug resistance and specific mutations in a well-defined clinical M. tuberculosis strain promotes or limits the development of additional resistance. In vitro mutants resistant to pretomanid, linezolid, moxifloxacin, rifampicin and kanamycin were generated from a pan-susceptible clinical strain from the Beijing lineage. The resistant phenotypes to the anti-TB agents were confirmed by the broth microdilution assay and genetic mutations were identified by targeted gene sequencing. Growth of mono-resistant mutants was done in enriched medium for 14 days to assess in vitro fitness. Double resistant mutants were generated against anti-TB drug combinations at concentrations 5x and 10x the minimum inhibitory concentration. Subsequently, mutation frequencies for these anti-TB drugs in the different mono-resistant backgrounds were determined. The initial level of resistance and the mutation frequencies observed for the mono-resistant mutants were comparable to those previously reported. Targeted gene sequencing revealed the presence of known and clinically relevant mutations in the mutants resistant to linezolid, rifampicin, kanamycin and moxifloxacin. Significant growth defects were observed for mutants grown under in vitro conditions compared to the sensitive progenitor. Mutation frequencies determination in the mono-resistant mutants revealed a significant increase in mutation frequency against rifampicin and kanamycin, but a significant decrease in mutation frequency against linezolid and sutezolid. This suggests that these mono-resistant mutants are more prone to develop resistance to rifampicin and kanamycin, but less prone to develop resistance against linezolid and sutezolid. Even though kanamycin and linezolid both inhibit protein synthesis, these compounds target different subunits of the ribosome, thereby leading to different outcomes in terms of fitness in the mutants with impaired cellular function. These observations showed that oxazolidinone treatment is instrumental in limiting the development of multi-drug resistance in M. tuberculosis in vitro.

Keywords: oxazolidinones, mutations, resistance, tuberculosis

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Authors: Olivia A. Kjorlien, Maryam Asghari, Farshid Alizadeh-Shabdiz

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The goal of this paper is to investigate the impact of mosaic augmentation on the performance of object detection solutions. To carry out the study, YOLOv4 and YOLOv4-Tiny models have been selected, which are popular, advanced object detection models. These models are also representatives of two classes of complex and simple models. The study also has been carried out on two categories of objects, simple and complex. For this study, YOLOv4 and YOLOv4 Tiny are trained with and without mosaic augmentation for two sets of objects. While mosaic augmentation improves the performance of simple object detection, it deteriorates the performance of complex object detection, specifically having the largest negative impact on the false positive rate in a complex object detection case.

Keywords: accuracy, false positives, mosaic augmentation, object detection, YOLOV4, YOLOV4-Tiny

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Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

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A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

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Authors: Anton Stadler, Thorsten Ike

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In this paper, we present a video based smoke detection algorithm based on TVL1 optical flow estimation. The main part of the algorithm is an accumulating system for motion angles and upward motion speed of the flow field. We optimized the usage of TVL1 flow estimation for the detection of smoke with very low smoke density. Therefore, we use adapted flow parameters and estimate the flow field on difference images. We show in theory and in evaluation that this improves the performance of smoke detection significantly. We evaluate the smoke algorithm using videos with different smoke densities and different backgrounds. We show that smoke detection is very reliable in varying scenarios. Further we verify that our algorithm is very robust towards crowded scenes disturbance videos.

Keywords: low density, optical flow, upward smoke motion, video based smoke detection

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Authors: Kuang-Hsiung Tan, Chih-Chan Hu, Chien-Wu Lan, Shih-Sung Lin, Te-Jen Chang

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An active islanding detection method using disturbance signal injection with intelligent controller is proposed in this study. First, a DC\AC power inverter is emulated in the distributed generator (DG) system to implement the tracking control of active power, reactive power outputs and the islanding detection. The proposed active islanding detection method is based on injecting a disturbance signal into the power inverter system through the d-axis current which leads to a frequency deviation at the terminal of the RLC load when the utility power is disconnected. Moreover, in order to improve the transient and steady-state responses of the active power and reactive power outputs of the power inverter, and to further improve the performance of the islanding detection method, two probabilistic fuzzy neural networks (PFNN) are adopted to replace the traditional proportional-integral (PI) controllers for the tracking control and the islanding detection. Furthermore, the network structure and the online learning algorithm of the PFNN are introduced in detail. Finally, the feasibility and effectiveness of the tracking control and the proposed active islanding detection method are verified with experimental results.

Keywords: distributed generators, probabilistic fuzzy neural network, islanding detection, non-detection zone

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Authors: Carlos Alberto Riveros, Edwin Fabián García, Javier Enrique Rivero

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The measured data obtained from sensors in continuous monitoring of civil structures are mainly used for modal identification and damage detection. Therefore when modal identification analysis is carried out the quality in the identification of the modes will highly influence the damage detection results. It is also widely recognized that the usefulness of the measured data used for modal identification and damage detection is significantly influenced by the number and locations of sensors. The objective of this study is the numerical implementation of two widely known optimum sensor placement methods in beam-like structures

Keywords: optimum sensor placement, structural damage detection, modal identification, beam-like structures.

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Authors: Jie Yang, Jian-Min Meng

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A GPU-based floating object detection scheme is presented in this paper which is designed for floating mine detection tasks. This system uses contrast and motion information to eliminate as many false positives as possible while avoiding false negatives. The GPU computation platform is deployed to allow detecting objects in real-time. From the experimental results, it is shown that with certain configuration, the GPU-based scheme can speed up the computation up to one thousand times compared to the CPU-based scheme.

Keywords: object detection, GPU, motion estimation, parallel processing

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Authors: Vedant Subhash

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This paper discusses the physics of the detection of thermal neutrons using thin-film coated semiconductor detectors. The thermal neutron detection efficiency as a function of film thickness is calculated for the front and back irradiation detector devices coated with ¹⁰B, ⁶LiF, and pure Li thin films. The detection efficiency for back irradiation devices is 4.15% that is slightly higher than that for front irradiation detectors, 4.0% for ¹⁰B films of thickness 2.4μm. The theoretically calculated thermal neutron detection efficiency using ¹⁰B film thickness of 1.1 μm for the back irradiation device is 3.0367%, which has an offset of 0.0367% from the experimental value of 3.0%. The detection efficiency values are compared and proved consistent with the given calculations.

Keywords: detection efficiency, neutron detection, semiconductor detectors, thermal neutrons

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Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

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Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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Authors: Atlal El-Assaad

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Viruses change with time through mutations and result in new variants that may persist or disappear. A Mutation refers to an actual change in the virus genetic sequence, and a variant is a viral genome that may contain one or more mutations. Critical mutations may cause the virus to be more transmissible, with high disease severity, and more vulnerable to diagnostics, therapeutics, and vaccines. Thus, variants carrying such mutations may increase the risk to human health and are considered variants of concern (VOC). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) - the contagious in humans, positive-sense single-stranded RNA virus that caused coronavirus disease 2019 (COVID-19) - has been studied thoroughly, and several variants were revealed across the world with their corresponding mutations. SARS-CoV-2 has four structural proteins, known as the S (spike), E (envelope), M (membrane), and N (nucleocapsid) proteins, but prior study and vaccines development focused on genetic mutations in the S protein due to its vital role in allowing the virus to attach and fuse with the membrane of a host cell. Specifically, subunit S1 catalyzes attachment, whereas subunit S2 mediates fusion. In this perspective, we studied all charged amino acid mutations of the SARS-CoV-2 viral spike protein S1 when bound to Antibody CC12.1 in a crystal structure and assessed the effect of different mutations. We generated all missense mutants of SARS-CoV-2 protein amino acids (AAs) within the SARS-CoV-2:CC12.1 complex model. To generate the family of mutants in each complex, we mutated every charged amino acid with all other charged amino acids (Lysine (K), Arginine (R), Glutamic Acid (E), and Aspartic Acid (D)) and studied the new binding of the complex after each mutation. We applied Poisson-Boltzmann electrostatic calculations feeding into free energy calculations to determine the effect of each mutation on binding. After analyzing our data, we identified charged amino acids keys for binding. Furthermore, we validated those findings against published experimental genetic data. Our results are the first to propose in silico potential life-threatening mutations of SARS-CoV-2 beyond the present mutations found in the five common variants found worldwide.

Keywords: SARS-CoV-2, variant, ionic amino acid, protein-protein interactions, missense mutation, AESOP

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Authors: Manuel Alves, Angelica Reis, Armindo Lobo, Valdemar Leiras

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In industry 4.0, it is common to have a lot of sensor data. In this deluge of data, hints of possible problems are difficult to spot. The digital twin concept aims to help answer this problem, but it is mainly used as a monitoring tool to handle the visualisation of data. Failure detection is of paramount importance in any industry, and it consumes a lot of resources. Any improvement in this regard is of tangible value to the organisation. The aim of this paper is to add the ability to forecast test failures, curtailing detection times. To achieve this, several anomaly detection algorithms were compared with a symbolic regression approach. To this end, Isolation Forest, One-Class SVM and an auto-encoder have been explored. For the symbolic regression PySR library was used. The first results show that this approach is valid and can be added to the tools available in this context as a low resource anomaly detection method since, after training, the only requirement is the calculation of a polynomial, a useful feature in the digital twin context.

Keywords: anomaly detection, digital twin, industry 4.0, symbolic regression

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Authors: S. Ghasemi, K. Khorasani

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In this paper, the problem of fault detection and isolation in the attitude control subsystem of spacecraft formation flying is considered. In order to design the fault detection method, an extended Kalman filter is utilized which is a nonlinear stochastic state estimation method. Three fault detection architectures, namely, centralized, decentralized, and semi-decentralized are designed based on the extended Kalman filters. Moreover, the residual generation and threshold selection techniques are proposed for these architectures.

Keywords: component, formation flight of satellites, extended Kalman filter, fault detection and isolation, actuator fault

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Authors: Raffaele A. Calogero

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RNAseq represents an attractive methodology for the detection of functional genomic variants. RNAseq results obtained from polyA+ RNA selection protocol (POLYA) and from exonic regions capturing protocol (ACCESS) indicate that ACCESS detects 10% more coding SNV/INDELs with respect to POLYA. ACCESS requires less reads for coding SNV detection with respect to POLYA. However, if the analysis aims at identifying SNV/INDELs also in the 5’ and 3’ UTRs, POLYA is definitively the preferred method. No particular advantage comes from ACCESS or POLYA in the detection of fusion transcripts.

Keywords: fusion transcripts, INDEL, RNA-seq, WES, SNV

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Authors: M. Y. Kang, Euntaek Yoon, H. D. Choi

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To calculate the full energy (FE) absorption peak efficiency for arbitrary volume sample, we developed and verified the EXVol (Efficiency calculator for EXtended Voluminous source) code which is based on effective solid angle method. EXVol is possible to describe the source area as a non-uniform three-dimensional (x, y, z) source. And decompose and set it into several sets of volume units. Users can equally divide (x, y, z) coordinate system to calculate the detection efficiency at a specific position of a cylindrical volume source. By determining the detection efficiency for differential volume units, the total radiative absolute distribution and the correction factor of the detection efficiency can be obtained from the nondestructive measurement of the source. In order to check the performance of the EXVol code, Si ingot of 20 cm in diameter and 50 cm in height were used as a source. The detector was moved at the collimation geometry to calculate the detection efficiency at a specific position and compared with the experimental values. In this study, the performance of the EXVol code was extended to obtain the detection efficiency distribution at a specific position in a large volume source.

Keywords: attenuation, EXVol, detection efficiency, volume source

Procedia PDF Downloads 183

Authors: Mohd Zamri Osman, Mohd Aizaini Maarof, Mohd Foad Rohani

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Human skin detection recognized as the primary step in most of the applications such as face detection, illicit image filtering, hand recognition and video surveillance. The performance of any skin detection applications greatly relies on the two components: feature extraction and classification method. Skin color is the most vital information used for skin detection purpose. However, color feature alone sometimes could not handle images with having same color distribution with skin color. A color feature of pixel-based does not eliminate the skin-like color due to the intensity of skin and skin-like color fall under the same distribution. Hence, the statistical color analysis will be exploited such mean and standard deviation as an additional feature to increase the reliability of skin detector. In this paper, we studied the effectiveness of statistical color feature for human skin detection. Furthermore, the paper analyzed the integrated color and texture using eight classifiers with three color spaces of RGB, YCbCr, and HSV. The experimental results show that the integrating statistical feature using Random Forest classifier achieved a significant performance with an F1-score 0.969.

Keywords: color space, neural network, random forest, skin detection, statistical feature

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Authors: Yang Zhou, Kangfeng Zheng, Wei Ni, Ren Ping Liu

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Software-defined networking (SDN) provides a solution for scalable network framework with decoupled control and data plane. However, this architecture also induces a particular distributed denial-of-service (DDoS) attack that can affect or even overwhelm the SDN network. DDoS attack detection problem has to date been mostly researched as entropy comparison problem. However, this problem lacks the utilization of SDN, and the results are not accurate. In this paper, we propose a DDoS attack detection method, which interprets DDoS detection as a signature matching problem and is formulated as Earth Mover’s Distance (EMD) model. Considering the feasibility and accuracy, we further propose to define the cost function of EMD to be a generalized Kullback-Leibler divergence. Simulation results show that our proposed method can detect DDoS attacks by comparing EMD values with the ones computed in the case without attacks. Moreover, our method can significantly increase the true positive rate of detection.

Keywords: DDoS detection, EMD, relative entropy, SDN

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Authors: Emhimed Saffor

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In this paper, the problem of edge detection in digital images is considered. Three methods of edge detection based on mathematical morphology algorithm were applied on two sets (Brain and Chest) CT images. 3x3 filter for first method, 5x5 filter for second method and 7x7 filter for third method under MATLAB programming environment. The results of the above-mentioned methods are subjectively evaluated. The results show these methods are more efficient and satiable for medical images, and they can be used for different other applications.

Keywords: CT images, Matlab, medical images, edge detection

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Authors: Victoria Siriaki Jorry, I. S. Mbalawata, Hayong Shin

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The main objective in a change detection problem is to develop algorithms for efficient detection of gradual and/or abrupt changes in the parameter distribution of a process or time series data. In this paper, we present a modified cumulative (MCUSUM) algorithm to detect the start and end of a time-varying linear drift in mean value of a time series data based on likelihood ratio test procedure. The design, implementation and performance of the proposed algorithm for a linear drift detection is evaluated and compared to the existing CUSUM algorithm using different performance measures. An approach to accurately approximate the threshold of the MCUSUM is also provided. Performance of the MCUSUM for gradual change-point detection is compared to that of standard cumulative sum (CUSUM) control chart designed for abrupt shift detection using Monte Carlo Simulations. In terms of the expected time for detection, the MCUSUM procedure is found to have a better performance than a standard CUSUM chart for detection of the gradual change in mean. The algorithm is then applied and tested to a randomly generated time series data with a gradual linear trend in mean to demonstrate its usefulness.

Keywords: average run length, CUSUM control chart, gradual change detection, likelihood ratio test

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Authors: Hazha Hidayat, Shayma Ibrahim

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Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

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Authors: Kaveh Shahi, Helmi Z. M. Shafri, Ebrahim Taherzadeh

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In remote sensing, shadow causes problems in many applications such as change detection and classification. It is caused by objects which are elevated, thus can directly affect the accuracy of information. For these reasons, it is very important to detect shadows particularly in urban high spatial resolution imagery which created a significant problem. This paper focuses on automatic shadow detection based on a new spectral index for multispectral imagery known as Shadow Detection Index (SDI). The new spectral index was tested on different areas of World-View 2 images and the results demonstrated that the new spectral index has a massive potential to extract shadows effectively and automatically.

Keywords: spectral index, shadow detection, remote sensing images, World-View 2

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Authors: Nam-Uk Kim, Sung-Hwan Kim, Tai-Myoung Chung

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Typical security management systems are not suitable for detecting APT attack, because they cannot draw the big picture from trivial events of security solutions. Although SIEM solutions have security analysis engine for that, their security analysis mechanisms need to be verified in academic field. Although this paper proposes merely an architectural model for APT detection, we will keep studying on correlation analysis mechanism in the future.

Keywords: advanced persistent threat, anomaly detection, data mining

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Authors: Yeongyu Choi, Ju H. Park, Ho-Youl Jung

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In this paper, we propose labeling based RANSAC algorithm for lane detection. Advanced driver assistance systems (ADAS) have been widely researched to avoid unexpected accidents. Lane detection is a necessary system to assist keeping lane and lane departure prevention. The proposed vision based lane detection method applies Canny edge detection, inverse perspective mapping (IPM), K-means algorithm, mathematical morphology operations and 8 connected-component labeling. Next, random samples are selected from each labeling region for RANSAC. The sampling method selects the points of lane with a high probability. Finally, lane parameters of straight line or curve equations are estimated. Through the simulations tested on video recorded at daytime and nighttime, we show that the proposed method has better performance than the existing RANSAC algorithm in various environments.

Keywords: Canny edge detection, k-means algorithm, RANSAC, inverse perspective mapping

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Authors: Mona Vijayaran, Gurleen Oberoi, Sanjay Mishra

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Introduction: p190 BCR‐ABL1 in CML is often associated with monocytosis. In the case described here, monocytosis is associated with coexisting p210 BCR‐ABL and CMML clones. Mutation analysis using next‐generation sequence (NGS) in our case showed TET2 and SRSF2 mutations. Aims & Objectives: A 75-year male was evaluated for monocytosis and thrombocytopenia. CBC showed Hb-11.8g/dl, TLC-12,060/cmm, Monocytes-35%, Platelets-39,000/cmm. Materials & Methods: Bone marrow examination showed a hypercellular marrow with myeloid series showing sequential maturation up to neutrophils with 30% monocytes. Immunophenotyping by flow cytometry from bone marrow had 3% blasts. Making chronic myelomonocytic leukemia as the likely diagnosis. NGS for myeloid mutation panel had TET2 (48.9%) and SRSF2 (32.5%) mutations. This report further supported the diagnosis of CMML. To fulfil the WHO diagnostic criteria for CMML, a BCR ABL1 by RQ-PCR was sent. The report came positive for p210 (B3A2, B2A2) Major Transcript (M-BCR) % IS of 38.418. Result: The patient was counselled regarding the unique presentation of the presence of 2 clones- P210 CML and CMML. After discussion with an international faculty with vast experience in CMML. It was decided to start this elderly gentleman on Imatinib 200mg and not on azacytidine, as ASXL1 was not present; hence, his chances of progressing to AML would be less and on the other end, if CML is left untreated then chances of progression to blast phase would always be a possibility. After 3 months on Imatinib his platelet count improved to 80,000 to 90,000/cmm, but his monocytosis persists. His 3rd month BCR-ABL1 IS% is 0.004%. Conclusion: After searching the literature, there were no case reports of a coexisting CML p210 with CMML. This case might be the first case report. p190 BCR ABL1 is often associated with monocytosis. There are few case reports of p210 BCR ABL1 positivity in patients with monocytosis but none with coexisting CMML. This case highlights the need for extensively evaluating patients with monocytosis with next-generation sequencing for myeloid mutation panel and BCR-ABL1 by RT-PCR to correctly diagnose and treat them.

Keywords: CMML, NGS, p190 CML, Imatinib

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Authors: M. Kouyate, M. Sangare, S. Samake, S. Keita, H. G. Kim, D. H. Geschwind

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Background & Objectives: Human genetic studies can be expensive, even unaffordable, in developing countries, partly due to the sequencing costs. Our aim is to pilot the use of bioinformatics tools to guide scientifically valid, locally relevant, and economically sound autism genetic research in Mali. Methods: The following databases, NCBI, HGMD, and LSDB, were used to identify hot point mutations. Phenotype, transmission pattern, theoretical protein expression in the brain, the impact of the mutation on the 3D structure of the protein) were used to prioritize selected autism genes. We used the protein database, Modeller, and clustal W. Results: We found Mef2c (Gly27Ala/Leu38Gln), Pten (Thr131IIle), Prodh (Leu289Met), Nme1 (Ser120Gly), and Dhcr7 (Pro227Thr/Glu224Lys). These mutations were associated with endonucleases BseRI, NspI, PfrJS2IV, BspGI, BsaBI, and SpoDI, respectively. Gly27Ala/Leu38Gln mutations impacted the 3D structure of the Mef2c protein. Mef2c protein sequences across species showed a high percentage of similarity with a highly conserved MADS domain. Discussion: Mef2c, Pten, Prodh, Nme1, and Dhcr 7 gene mutation frequencies in the Malian population will be very informative. PCR coupled with restriction enzyme digestion can be used to screen the targeted gene mutations. Sanger sequencing will be used for confirmation only. This will cut down considerably the sequencing cost for gene-to-gene mutation screening. The knowledge of the 3D structure and potential impact of the mutations on Mef2c protein informed the protein family and altered function (ex. Leu38Gln). Conclusion & Future Work: Bio-informatics will positively impact autism research in Mali. Our approach can be applied to another neuropsychiatric disorder.

Keywords: bioinformatics, endonucleases, autism, Sanger sequencing, point mutations

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Gherbi Nabil

Abstract:

Detection of ground targets in SAR radar images is an important area for radar information processing. In the literature, various algorithms have been discussed in this context. However, most of them are of low robustness and accuracy. To this end, we discuss target detection in SAR images based on compressive sensing. Firstly, traditional SAR image target detection algorithms are discussed, and their limitations are highlighted. Secondly, a compressive sensing method is proposed based on the sparsity of SAR images. Next, the detection problem is solved using Multiple Measurements Vector configuration. Furthermore, a robust Alternating Direction Method of Multipliers (ADMM) is developed to solve the optimization problem. Finally, the detection results obtained using raw complex data are presented. Experimental results on real SAR images have verified the effectiveness of the proposed algorithm.

Keywords: compressive sensing, raw complex data, synthetic aperture radar, ADMM

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Authors: Hyun-Koo Kim, Yong-Hun Kim, Soo-Young Suk, Ju H. Park, Ho-Youl Jung

Abstract:

This paper presents an effective speed hump detection process at the day-time. we focus only on round types of speed humps in the day-time dynamic road environment. The proposed speed hump detection scheme consists mainly of two process as stereo matching and speed hump detection process. Our proposed process focuses to speed hump detection process. Speed hump detection process consist of noise reduction step, data fusion step, and speed hemp detection step. The proposed system is tested on Intel Core CPU with 2.80 GHz and 4 GB RAM tested in the urban road environments. The frame rate of test videos is 30 frames per second and the size of each frame of grabbed image sequences is 1280 pixels by 670 pixels. Using object-marked sequences acquired with an on-vehicle camera, we recorded speed humps and non-speed humps samples. Result of the tests, our proposed method can be applied in real-time systems by computation time is 13 ms. For instance; our proposed method reaches 96.1 %.

Keywords: data fusion, round types speed hump, speed hump detection, surface filter

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