Search results for: gene name recognition
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3027

Search results for: gene name recognition

2787 Understanding the Interactive Nature in Auditory Recognition of Phonological/Grammatical/Semantic Errors at the Sentence Level: An Investigation Based upon Japanese EFL Learners’ Self-Evaluation and Actual Language Performance

Authors: Hirokatsu Kawashima

Abstract:

One important element of teaching/learning listening is intensive listening such as listening for precise sounds, words, grammatical, and semantic units. Several classroom-based investigations have been conducted to explore the usefulness of auditory recognition of phonological, grammatical and semantic errors in such a context. The current study reports the results of one such investigation, which targeted auditory recognition of phonological, grammatical, and semantic errors at the sentence level. 56 Japanese EFL learners participated in this investigation, in which their recognition performance of phonological, grammatical and semantic errors was measured on a 9-point scale by learners’ self-evaluation from the perspective of 1) two types of similar English sound (vowel and consonant minimal pair words), 2) two types of sentence word order (verb phrase-based and noun phrase-based word orders), and 3) two types of semantic consistency (verb-purpose and verb-place agreements), respectively, and their general listening proficiency was examined using standardized tests. A number of findings have been made about the interactive relationships between the three types of auditory error recognition and general listening proficiency. Analyses based on the OPLS (Orthogonal Projections to Latent Structure) regression model have disclosed, for example, that the three types of auditory error recognition are linked in a non-linear way: the highest explanatory power for general listening proficiency may be attained when quadratic interactions between auditory recognition of errors related to vowel minimal pair words and that of errors related to noun phrase-based word order are embraced (R2=.33, p=.01).

Keywords: auditory error recognition, intensive listening, interaction, investigation

Procedia PDF Downloads 488
2786 Wolof Voice Response Recognition System: A Deep Learning Model for Wolof Audio Classification

Authors: Krishna Mohan Bathula, Fatou Bintou Loucoubar, FNU Kaleemunnisa, Christelle Scharff, Mark Anthony De Castro

Abstract:

Voice recognition algorithms such as automatic speech recognition and text-to-speech systems with African languages can play an important role in bridging the digital divide of Artificial Intelligence in Africa, contributing to the establishment of a fully inclusive information society. This paper proposes a Deep Learning model that can classify the user responses as inputs for an interactive voice response system. A dataset with Wolof language words ‘yes’ and ‘no’ is collected as audio recordings. A two stage Data Augmentation approach is adopted for enhancing the dataset size required by the deep neural network. Data preprocessing and feature engineering with Mel-Frequency Cepstral Coefficients are implemented. Convolutional Neural Networks (CNNs) have proven to be very powerful in image classification and are promising for audio processing when sounds are transformed into spectra. For performing voice response classification, the recordings are transformed into sound frequency feature spectra and then applied image classification methodology using a deep CNN model. The inference model of this trained and reusable Wolof voice response recognition system can be integrated with many applications associated with both web and mobile platforms.

Keywords: automatic speech recognition, interactive voice response, voice response recognition, wolof word classification

Procedia PDF Downloads 87
2785 Makhraj Recognition Using Convolutional Neural Network

Authors: Zan Azma Nasruddin, Irwan Mazlin, Nor Aziah Daud, Fauziah Redzuan, Fariza Hanis Abdul Razak

Abstract:

This paper focuses on a machine learning that learn the correct pronunciation of Makhraj Huroofs. Usually, people need to find an expert to pronounce the Huroof accurately. In this study, the researchers have developed a system that is able to learn the selected Huroofs which are ha, tsa, zho, and dza using the Convolutional Neural Network. The researchers present the chosen type of the CNN architecture to make the system that is able to learn the data (Huroofs) as quick as possible and produces high accuracy during the prediction. The researchers have experimented the system to measure the accuracy and the cross entropy in the training process.

Keywords: convolutional neural network, Makhraj recognition, speech recognition, signal processing, tensorflow

Procedia PDF Downloads 305
2784 ISMARA: Completely Automated Inference of Gene Regulatory Networks from High-Throughput Data

Authors: Piotr J. Balwierz, Mikhail Pachkov, Phil Arnold, Andreas J. Gruber, Mihaela Zavolan, Erik van Nimwegen

Abstract:

Understanding the key players and interactions in the regulatory networks that control gene expression and chromatin state across different cell types and tissues in metazoans remains one of the central challenges in systems biology. Our laboratory has pioneered a number of methods for automatically inferring core gene regulatory networks directly from high-throughput data by modeling gene expression (RNA-seq) and chromatin state (ChIP-seq) measurements in terms of genome-wide computational predictions of regulatory sites for hundreds of transcription factors and micro-RNAs. These methods have now been completely automated in an integrated webserver called ISMARA that allows researchers to analyze their own data by simply uploading RNA-seq or ChIP-seq data sets and provides results in an integrated web interface as well as in downloadable flat form. For any data set, ISMARA infers the key regulators in the system, their activities across the input samples, the genes and pathways they target, and the core interactions between the regulators. We believe that by empowering experimental researchers to apply cutting-edge computational systems biology tools to their data in a completely automated manner, ISMARA can play an important role in developing our understanding of regulatory networks across metazoans.

Keywords: gene expression analysis, high-throughput sequencing analysis, transcription factor activity, transcription regulation

Procedia PDF Downloads 33
2783 The Artificial Intelligence Technologies Used in PhotoMath Application

Authors: Tala Toonsi, Marah Alagha, Lina Alnowaiser, Hala Rajab

Abstract:

This report is about the Photomath app, which is an AI application that uses image recognition technology, specifically optical character recognition (OCR) algorithms. The (OCR) algorithm translates the images into a mathematical equation, and the app automatically provides a step-by-step solution. The application supports decimals, basic arithmetic, fractions, linear equations, and multiple functions such as logarithms. Testing was conducted to examine the usage of this app, and results were collected by surveying ten participants. Later, the results were analyzed. This paper seeks to answer the question: To what level the artificial intelligence features are accurate and the speed of process in this app. It is hoped this study will inform about the efficiency of AI in Photomath to the users.

Keywords: photomath, image recognition, app, OCR, artificial intelligence, mathematical equations.

Procedia PDF Downloads 140
2782 A Human Activity Recognition System Based on Sensory Data Related to Object Usage

Authors: M. Abdullah, Al-Wadud

Abstract:

Sensor-based activity recognition systems usually accounts which sensors have been activated to perform an activity. The system then combines the conditional probabilities of those sensors to represent different activities and takes the decision based on that. However, the information about the sensors which are not activated may also be of great help in deciding which activity has been performed. This paper proposes an approach where the sensory data related to both usage and non-usage of objects are utilized to make the classification of activities. Experimental results also show the promising performance of the proposed method.

Keywords: Naïve Bayesian, based classification, activity recognition, sensor data, object-usage model

Procedia PDF Downloads 294
2781 CRISPR/Cas9 Based Gene Stacking in Plants for Virus Resistance Using Site-Specific Recombinases

Authors: Sabin Aslam, Sultan Habibullah Khan, James G. Thomson, Abhaya M. Dandekar

Abstract:

Losses due to viral diseases are posing a serious threat to crop production. A quick breakdown of resistance to viruses like Cotton Leaf Curl Virus (CLCuV) demands the application of a proficient technology to engineer durable resistance. Gene stacking has recently emerged as a potential approach for integrating multiple genes in crop plants. In the present study, recombinase technology has been used for site-specific gene stacking. A target vector (pG-Rec) was designed for engineering a predetermined specific site in the plant genome whereby genes can be stacked repeatedly. Using Agrobacterium-mediated transformation, the pG-Rec was transformed into Coker-312 along with Nicotiana tabacum L. cv. Xanthi and Nicotiana benthamiana. The transgene analysis of target lines was conducted through junction PCR. The transgene positive target lines were used for further transformations to site-specifically stack two genes of interest using Bxb1 and PhiC31 recombinases. In the first instance, Cas9 driven by multiplex gRNAs (for Rep gene of CLCuV) was site-specifically integrated into the target lines and determined by the junction PCR and real-time PCR. The resulting plants were subsequently used to stack the second gene of interest (AVP3 gene from Arabidopsis for enhancing cotton plant growth). The addition of the genes is simultaneously achieved with the removal of marker genes for recycling with the next round of gene stacking. Consequently, transgenic marker-free plants were produced with two genes stacked at the specific site. These transgenic plants can be potential germplasm to introduce resistance against various strains of cotton leaf curl virus (CLCuV) and abiotic stresses. The results of the research demonstrate gene stacking in crop plants, a technology that can be used to introduce multiple genes sequentially at predefined genomic sites. The current climate change scenario highlights the use of such technologies so that gigantic environmental issues can be tackled by several traits in a single step. After evaluating virus resistance in the resulting plants, the lines can be a primer to initiate stacking of further genes in Cotton for other traits as well as molecular breeding with elite cotton lines.

Keywords: cotton, CRISPR/Cas9, gene stacking, genome editing, recombinases

Procedia PDF Downloads 118
2780 Down-Regulated Gene Expression of GKN1 and GKN2 as Diagnostic Markers for Gastric Cancer

Authors: Amer A. Hasan, Mehri Igci, Ersin Borazan, Rozhgar A. Khailany, Emine Bayraktar, Ahmet Arslan

Abstract:

Gastric cancer (GC) has high morbidity and fatality rate in various countries and is still one of the most frequent and deadly diseases. Novel mitogenic and motogenic Gastrokine1 (GKN1) and Gastrokine 2 (GKN2) genes that are highly expressed in the normal stomach epithelium and plays an important role in maintaining the integrity and homeostasis of stomach mucosal epithelial cells. Significant loss of copy number and mRNA transcript of GKN1 and GKN2 gene expression were frequently observed in all types of gastric cancer. In this study, 47 paired samples that were grouped according to the types of gastric cancer and the clinical characteristics of the patients, including gender and average of age were investigated with gene expression analysis and mutation screening by monetering RT-PCR, SSCP and nucleotide sequencing techniques. Both GKN1 and GKN2 genes were observed significantly reduced found by (Wilcoxon signed rank test; p<0.05). As a result of gene screening, no mutation (no different genotype) was detected. It is considered that gene mutations are not the cause of inactivation of gastrokines. In conclusion, the mRNA expression level of GKN1 and GKN2 genes statistically was decreased regardless the gender, age or cancer type of patients. Reduced of gastrokine genes seems to occur at the initial steps of cancer development. In order to understand the investigation between gastric cancer and diagnostic biomarker; further analysis is necessary.

Keywords: gastric cancer, diagnostic biomarker, nucleotide sequencing, semi-quantitative RT-PCR

Procedia PDF Downloads 449
2779 Identification of 332G>A Polymorphism in Exon 3 of the Leptin Gene and Partially Effects on Body Size and Tail Dimension in Sanjabi Sheep

Authors: Roya Bakhtiar, Alireza Abdolmohammadi, Hadi Hajarian, Zahra Nikousefat, Davood, Kalantar-Neyestanaki

Abstract:

The objective of the present study was to determine the polymorphism in the leptin (332G>A) and its association with biometric traits in Sanjabi sheep. For this purpose, blood samples from 96 rams were taken, and tail length, width tail, circumference tail, body length, body width, and height were simultaneously recorded. PCR was performed using specific primer to amplify 463 bp fragment including exon 3 of leptin gene, and PCR products were digested by Cail restriction enzymes. The 332G>A (at 332th nucleotide of exon 3 leptin gene) that caused an amino acid change from Arg to Gln was detected by Cail (CAGNNNCTG) endonuclease, as the endonuclease cannot cut this region if G nucleotide is located in this position. Three genotypes including GG (463), GA (463, 360and 103 bp) and GG (360 bp and 103 bp) were identified after digestion by enzyme. The estimated frequencies of three genotypes including GG, GA, and AA for 332G>A locus were 0.68, 0.29 and 0.03 and those were 0.18 and 0.82 for A and G alleles, respectively. In the current study, chi-square test indicated that 332G>A positions did not deviate from the Hardy–Weinberg (HW) equilibrium. The most important reason to show HW equation was that samples used in this study belong to three large local herds with a traditional breeding system having random mating and without selection. Shannon index amount was calculated which represent an average genetic variation in Sanjabi rams. Also, heterozygosity estimated by Nei index indicated that genetic diversity of mutation in the leptin gene is moderate. Leptin gene polymorphism in the 332G>A had significant effect on body length (P<0.05) trait, and individuals with GA genotype had significantly the higher body length compared to other individuals. Although animals with GA genotype had higher body width, this difference was not statistically significant (P>0.05). This non-synonymous SNP resulted in different amino acid changes at codon positions111(R/Q). As leptin activity is localized, at least in part, in domains between amino acid residues 106-1406, it is speculated that the detected SNP at position 332 may affect the activity of leptin and may lead to different biological functions. Based to our results, due to significant effect of leptin gene polymorphism on body size traits, this gene may be used a candidate gene for improving these traits.

Keywords: body size, Leptin gene, PCR-RFLP, Sanjabi sheep

Procedia PDF Downloads 310
2778 Features Vector Selection for the Recognition of the Fragmented Handwritten Numeric Chains

Authors: Salim Ouchtati, Aissa Belmeguenai, Mouldi Bedda

Abstract:

In this study, we propose an offline system for the recognition of the fragmented handwritten numeric chains. Firstly, we realized a recognition system of the isolated handwritten digits, in this part; the study is based mainly on the evaluation of neural network performances, trained with the gradient backpropagation algorithm. The used parameters to form the input vector of the neural network are extracted from the binary images of the isolated handwritten digit by several methods: the distribution sequence, sondes application, the Barr features, and the centered moments of the different projections and profiles. Secondly, the study is extended for the reading of the fragmented handwritten numeric chains constituted of a variable number of digits. The vertical projection was used to segment the numeric chain at isolated digits and every digit (or segment) was presented separately to the entry of the system achieved in the first part (recognition system of the isolated handwritten digits).

Keywords: features extraction, handwritten numeric chains, image processing, neural networks

Procedia PDF Downloads 242
2777 Cloning and Expression of Human Interleukin 15: A Promising Candidate for Cytokine Immunotherapy

Authors: Sadaf Ilyas

Abstract:

Recombinant cytokines have been employed successfully as potential therapeutic agent. Some cytokine therapies are already used as a part of clinical practice, ranging from early exploratory trials to well established therapies that have already received approval. Interleukin 15 is a pleiotropic cytokine having multiple roles in peripheral innate and adaptive immune cell function. It regulates the activation, proliferation and maturation of NK cells, T-cells, monocytes/macrophages and granulocytes, and the interactions between them thus acting as a bridge between innate and adaptive immune responses. Unraveling the biology of IL-15 has revealed some interesting surprises that may point toward some of the first therapeutic applications for this cytokine. In this study, the human interleukin 15 gene was isolated, amplified and ligated to a TA vector which was then transfected to a bacterial host, E. coli Top10F’. The sequence of cloned gene was confirmed and it showed 100% homology with the reported sequence. The confirmed gene was then subcloned in pET Expression system to study the IPTG induced expression of IL-15 gene. Positive expression was obtained for number of clones that showed 15 kd band of IL-15 in SDS-PAGE analysis, indicating the successful strain development that can be studied further to assess the potential therapeutic intervention of this cytokine in relevance to human diseases.

Keywords: Interleukin 15, pET expression system, immune therapy, protein purification

Procedia PDF Downloads 382
2776 Semantic Data Schema Recognition

Authors: Aïcha Ben Salem, Faouzi Boufares, Sebastiao Correia

Abstract:

The subject covered in this paper aims at assisting the user in its quality approach. The goal is to better extract, mix, interpret and reuse data. It deals with the semantic schema recognition of a data source. This enables the extraction of data semantics from all the available information, inculding the data and the metadata. Firstly, it consists of categorizing the data by assigning it to a category and possibly a sub-category, and secondly, of establishing relations between columns and possibly discovering the semantics of the manipulated data source. These links detected between columns offer a better understanding of the source and the alternatives for correcting data. This approach allows automatic detection of a large number of syntactic and semantic anomalies.

Keywords: schema recognition, semantic data profiling, meta-categorisation, semantic dependencies inter columns

Procedia PDF Downloads 394
2775 The Expression of Toll-Like Receptors Gene in Peripheral Blood Mononuclear Cells of Betong (KU Line) Chicken

Authors: Chaiwat Boonkaewwan, Anutian Suklek, Jatuporn Rattanasrisomporn, Autchara Kayan

Abstract:

Toll-like receptors (TLR) are conserved microbial sensing receptors located on cell surface that are able to detect different pathogens. The aim of the present study is to examine the expression of TLR gene in peripheral blood mononuclear cell of Betong (KU line) chicken. Blood samples were collected from healthy 12 Betong (KU line) chicken. PBMCs were isolated and maintained in RPMI1640 with 10% FBS, penicillin and streptomycin. Cell viability was determined by trypan blue dye exclusion test. The expression of TLRs gene was investigated by polymerase chain reaction (PCR) technique. Results showed that PBMCs viability from Betong (KU line) chicken was 95.38 ± 1.06%. From the study of TLRs gene expression, results indicated that there are expressions of TLR1.1 TLR1.2 TLR2.1 TLR2.2 TLR3 TLR4 TLR5 TLR 7 TLR15 and TLR21 in PBMCs of Betong (KU line) chicken. In conclusion, PBMCs isolated from blood of Betong (KU line) chicken had a high cell viability ( > 95%). The expression of TLRs in chicken was all found in PBMCs, which indicated that PBMC isolated from the blood of Betong (KU line) chicken can be used as an in vitro immune responses study.

Keywords: toll-like receptor, Betong (KU line) chicken, peripheral blood mononuclear cells

Procedia PDF Downloads 197
2774 Speech Recognition Performance by Adults: A Proposal for a Battery for Marathi

Authors: S. B. Rathna Kumar, Pranjali A Ujwane, Panchanan Mohanty

Abstract:

The present study aimed to develop a battery for assessing speech recognition performance by adults in Marathi. A total of four word lists were developed by considering word frequency, word familiarity, words in common use, and phonemic balance. Each word list consists of 25 words (15 monosyllabic words in CVC structure and 10 monosyllabic words in CVCV structure). Equivalence analysis and performance-intensity function testing was carried using the four word lists on a total of 150 native speakers of Marathi belonging to different regions of Maharashtra (Vidarbha, Marathwada, Khandesh and Northern Maharashtra, Pune, and Konkan). The subjects were further equally divided into five groups based on above mentioned regions. It was found that there was no significant difference (p > 0.05) in the speech recognition performance between groups for each word list and between word lists for each group. Hence, the four word lists developed were equally difficult for all the groups and can be used interchangeably. The performance-intensity (PI) function curve showed semi-linear function, and the groups’ mean slope of the linear portions of the curve indicated an average linear slope of 4.64%, 4.73%, 4.68%, and 4.85% increase in word recognition score per dB for list 1, list 2, list 3 and list 4 respectively. Although, there is no data available on speech recognition tests for adults in Marathi, most of the findings of the study are in line with the findings of research reports on other languages. The four word lists, thus developed, were found to have sufficient reliability and validity in assessing speech recognition performance by adults in Marathi.

Keywords: speech recognition performance, phonemic balance, equivalence analysis, performance-intensity function testing, reliability, validity

Procedia PDF Downloads 330
2773 Face Recognition Using Body-Worn Camera: Dataset and Baseline Algorithms

Authors: Ali Almadan, Anoop Krishnan, Ajita Rattani

Abstract:

Facial recognition is a widely adopted technology in surveillance, border control, healthcare, banking services, and lately, in mobile user authentication with Apple introducing “Face ID” moniker with iPhone X. A lot of research has been conducted in the area of face recognition on datasets captured by surveillance cameras, DSLR, and mobile devices. Recently, face recognition technology has also been deployed on body-worn cameras to keep officers safe, enabling situational awareness and providing evidence for trial. However, limited academic research has been conducted on this topic so far, without the availability of any publicly available datasets with a sufficient sample size. This paper aims to advance research in the area of face recognition using body-worn cameras. To this aim, the contribution of this work is two-fold: (1) collection of a dataset consisting of a total of 136,939 facial images of 102 subjects captured using body-worn cameras in in-door and daylight conditions and (2) evaluation of various deep-learning architectures for face identification on the collected dataset. Experimental results suggest a maximum True Positive Rate(TPR) of 99.86% at False Positive Rate(FPR) of 0.000 obtained by SphereFace based deep learning architecture in daylight condition. The collected dataset and the baseline algorithms will promote further research and development. A downloadable link of the dataset and the algorithms is available by contacting the authors.

Keywords: face recognition, body-worn cameras, deep learning, person identification

Procedia PDF Downloads 140
2772 Phylogenetic Analysis of the Thunnus Tuna Fish Using Cytochrome C Oxidase Subunit I Gene Sequence

Authors: Yijun Lai, Saber Khederzadeh, Lingshaung Han

Abstract:

Species in Thunnus are organized due to the similarity between them. The closeness between T. maccoyii, T. thynnus, T. Tonggol, T. atlanticus, T. albacares, T. obsesus, T. alalunga, and T. orientails are in different degrees. However, the genetic pattern of differentiation has not been presented based on individuals yet, to the author’s best knowledge. Hence, we aimed to analyze the difference in individuals level of tuna species to identify the factors that contribute to the maternal lineage variety using Cytochrome c oxidase subunit I (COXI) gene sequences. Our analyses provided evidence of sharing lineages in the Thunnus. A phylogenetic analysis revealed that these lineages are basal to the other sequences. We also showed a close connection between the T. tonggol, T. thynnus, and T. albacares populations. Also, the majority of the T. orientalis samples were clustered with the T. alalunga and, then, T. atlanticus populations. Phylogenetic trees and migration modeling revealed high proximity of T. thynnus sequences to a few T. orientalis and suggested possible gene flow with T. tonggol and T. albacares lineages, while all T. obsesus samples indicated unique clustering with each other. Our results support the presence of old maternal lineages in Thunnus, as a legacy of an ancient wave of colonization or migration.

Keywords: Thunnus Tuna, phylogeny, maternal lineage, COXI gene

Procedia PDF Downloads 256
2771 Polymorphisms of Calpastatin Gene and Its Association with Growth Traits in Indonesian Thin Tail Sheep

Authors: Muhammad Ihsan Andi Dagong, Cece Sumantri, Ronny Rachman Noor, Rachmat Herman, Mohamad Yamin

Abstract:

Calpastatin involved in various physiological processes in the body such as the protein turnover, growth, fusion and mioblast migration. Thus, allegedly Calpastatin gene diversity (CAST) have an association with growth and potential use as candidate genes for growth trait. This study aims to identify the association between the genetic diversity of CAST gene with some growth properties such as body dimention (morphometric), body weight and daily weight gain in sheep. A total of 157 heads of Thin Tail Sheep (TTS) reared intensively for fattening purposes in the uniform environmental conditions. Overall sheep used were male, and maintained for 3 months. The parameters of growth properties were measured among others: body weight gain (ADG) (g/head / day), body weight (kg), body length (cm), chest circumference (cm), height (cm). All the sheep were genotyped by using PCR-SSCP (single strand conformational polymorphism) methods. CAST gene in locus fragment intron 5 - exon 6 were amplified with a predicted length of about 254 bp PCR products. Then the sheep were stratified based on their CAST genotypes. The result of this research showed that no association were found between the CAST gene variations with morphometric body weight, but there was a significant association with daily body weight gain (ADG) in sheep observed. CAST-23 and CAST-33 genotypes has higher average daily gain than other genotypes. CAST-23 and CAST-33 genotypes that carrying the CAST-2 and CAST-3 alleles potential to be used in the selection of the nature of the growth trait of the TTS sheep.

Keywords: body weight, calpastatin, genotype, growth trait, thin tail sheep

Procedia PDF Downloads 291
2770 Pre-Analysis of Printed Circuit Boards Based on Multispectral Imaging for Vision Based Recognition of Electronics Waste

Authors: Florian Kleber, Martin Kampel

Abstract:

The increasing demand of gallium, indium and rare-earth elements for the production of electronics, e.g. solid state-lighting, photovoltaics, integrated circuits, and liquid crystal displays, will exceed the world-wide supply according to current forecasts. Recycling systems to reclaim these materials are not yet in place, which challenges the sustainability of these technologies. This paper proposes a multispectral imaging system as a basis for a vision based recognition system for valuable components of electronics waste. Multispectral images intend to enhance the contrast of images of printed circuit boards (single components, as well as labels) for further analysis, such as optical character recognition and entire printed circuit board recognition. The results show that a higher contrast is achieved in the near infrared compared to ultraviolet and visible light.

Keywords: electronics waste, multispectral imaging, printed circuit boards, rare-earth elements

Procedia PDF Downloads 394
2769 Joubert Syndrome: A Rare Genetic Disorder Reported in Kurdish Family

Authors: Aran Abd Al Rahman

Abstract:

Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

Procedia PDF Downloads 111
2768 The Contribution of the PCR-Enzymatic Digestion in the Positive Diagnosis of Proximal Spinal Muscular Atrophy in the Moroccan Population

Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

Abstract:

The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

Procedia PDF Downloads 222
2767 The Combination of the Mel Frequency Cepstral Coefficients, Perceptual Linear Prediction, Jitter and Shimmer Coefficients for the Improvement of Automatic Recognition System for Dysarthric Speech

Authors: Brahim Fares Zaidi

Abstract:

Our work aims to improve our Automatic Recognition System for Dysarthria Speech based on the Hidden Models of Markov and the Hidden Markov Model Toolkit to help people who are sick. With pronunciation problems, we applied two techniques of speech parameterization based on Mel Frequency Cepstral Coefficients and Perceptual Linear Prediction and concatenated them with JITTER and SHIMMER coefficients in order to increase the recognition rate of a dysarthria speech. For our tests, we used the NEMOURS database that represents speakers with dysarthria and normal speakers.

Keywords: ARSDS, HTK, HMM, MFCC, PLP

Procedia PDF Downloads 76
2766 Plant Mediated RNAi Approach to Knock Down Ecdysone Receptor Gene of Colorado Potato Beetle

Authors: Tahira Hussain, Ilhom Rahamkulov, Muhammad Aasim, Ugur Pirlak, Emre Aksoy, Mehmet Emin Caliskan, Allah Bakhsh

Abstract:

RNA interference (RNAi) has proved its usefulness in functional genomic research on insects recently and is considered potential strategy in crop improvement for the control of insect pests. The different insect pests incur significant losses to potato yield worldwide, Colorado Potato Beetle (CPB) being most notorious one. The present study focuses to knock down highly specific 20-hydroxyecdysone hormone-receptor complex interaction by using RNAi approach to silence Ecdysone receptor (EcR) gene of CPB in transgenic potato plants expressing dsRNA of EcR gene. The partial cDNA of Ecdysone receptor gene of CPB was amplified using specific primers in sense and anti-sense orientation and cloned in pRNAi-GG vector flanked by an intronic sequence (pdk). Leaf and internodal explants of Lady Olympia, Agria and Granola cultivars of potato were infected with Agrobacterium strain LBA4404 harboring plasmid pRNAi-CPB, pRNAi-GFP (used as control). Neomycin phosphotransferase (nptII) gene was used as a plant selectable marker at a concentration of 100 mg L⁻¹. The primary transformants obtained have shown proper integration of T-DNA in plant genome by standard molecular analysis like polymerase chain reaction (PCR), real-time PCR, Sothern blot. The transgenic plants developed out of these cultivars are being evaluated for their efficacy against larvae as well adults of CPB. The transgenic lines are expected to inhibit expression of EcR protein gene, hindering their molting process, hence leading to increased potato yield.

Keywords: plant mediated RNAi, molecular strategy, ecdysone receptor, insect metamorphosis

Procedia PDF Downloads 142
2765 Effect of Deer Antler Extract on Osteogenic Gene Expression and Longitudinal Bone Growth of Adolescent Male Rats

Authors: Kang-Hyun Leem, Myung-Gyou Kim, Hye Kyung Kim

Abstract:

Deer antler, traditionally used as a tonic and valuable drug in oriental medicine, has been considered to possess bone-strengthening activity. The upper section, mid section, and base of the antler has been known to exhibit different biological properties. Present study was performed to examine the effects of different parts of deer antler extract (DH) on osteogenic gene expressions in MG-63 cells and longitudinal bone growth in adolescent male rats. The expressions of osteogenic genes, collagen, alkaline phosphatase, osteocalcin, and osteopontin, were measured by quantitative real-time PCR. Longitudinal bone growth was measured in 3-week-old male Sprague-Dawley rats using fluorescence microscopy. To examine the effects on the growth plate metabolism, the total height of growth plate and bone morphogenetic protein-2 (BMP-2) were measured. Collagen and osteocalcin mRNA expressions were increased by all three parts of the DH treatment while osteopontin gene expression was not affected by any of the DH treatment. Alkaline phosphatase gene expression was increased by upper and mid part of DH while base part of DH fails to affect alkaline phosphatase gene expression. The upper and mid parts of the DH treatment enhanced longitudinal bone growth and total height of growth plate. The induction of BMP-2 protein expression in growth plate assessed by immunostaining was also promoted by upper and mid parts of the DH treatment. These results suggest that DH, especially upper and mid parts, stimulate osteogenic gene expressions and have the effect on bone growth in adolescent rats and might be used for the growth delayed adolescent and inherent growth failure patient.

Keywords: bone morphogenetic protein-2, deer antler, longitudinal bone growth, osteogenic genes

Procedia PDF Downloads 358
2764 Physicians’ Knowledge and Perception of Gene Profiling in Malaysia: A Pilot Study

Authors: Farahnaz Amini, Woo Yun Kin, Lazwani Kolandaiveloo

Abstract:

Availability of different genetic tests after completion of Human Genome Project increases the physicians’ responsibility to keep themselves update on the potential implementation of these genetic tests in their daily practice. However, due to numbers of barriers, still many of physicians are not either aware of these tests or are not willing to offer or refer their patients for genetic tests. This study was conducted an anonymous, cross-sectional, mailed-based survey to develop a primary data of Malaysian physicians’ level of knowledge and perception of gene profiling. Questionnaire had 29 questions. Total scores on selected questions were used to assess the level of knowledge. The highest possible score was 11. Descriptive statistics, one way ANOVA and chi-squared test was used for statistical analysis. Sixty three completed questionnaires was returned by 27 general practitioners (GPs) and 36 medical specialists. Responders’ age range from 24 to 55 years old (mean 30.2 ± 6.4). About 40% of the participants rated themselves as having poor level of knowledge in genetics in general whilst 60% believed that they have fair level of knowledge. However, almost half (46%) of the respondents felt that they were not knowledgeable about available genetic tests. A majority (94%) of the responders were not aware of any lab or company which is offering gene profiling services in Malaysia. Only 4% of participants were aware of using gene profiling for detection of dosage of some drugs. Respondents perceived greater utility of gene profiling for breast cancer (38%) compared to the colorectal familial cancer (3%). The score of knowledge ranged from 2 to 8 (mean 4.38 ± 1.67). Non-significant differences between score of knowledge of GPs and specialists were observed, with score of 4.19 and 4.58 respectively. There was no significant association between any demographic factors and level of knowledge. However, those who graduated between years 2001 to 2005 had higher level of knowledge. Overall, 83% of participants showed relatively high level of perception on value of gene profiling to detect patient’s risk of disease. However, low perception was observed for both statements of using gene profiling for general population in order to alter their lifestyle (25%) as well as having the full sequence of a patient genome for the purpose of determining a patient’s best match for treatment (18%). The lack of clinical guidelines, limited provider knowledge and awareness, lack of time and resources to educate patients, lack of evidence-based clinical information and cost of tests were the most barriers of ordering gene profiling mentioned by physicians. In conclusion Malaysian physicians who participate in this study had mediocre level of knowledge and awareness in gene profiling. The low exposure to the genetic questions and problems might be a key predictor of lack of awareness and knowledge on available genetic tests. Educational and training workshop might be useful in helping Malaysian physicians incorporate genetic profiling into practice for eligible patients.

Keywords: gene profiling, knowledge, Malaysia, physician

Procedia PDF Downloads 306
2763 The Prediction of Evolutionary Process of Coloured Vision in Mammals: A System Biology Approach

Authors: Shivani Sharma, Prashant Saxena, Inamul Hasan Madar

Abstract:

Since the time of Darwin, it has been considered that genetic change is the direct indicator of variation in phenotype. But a few studies in system biology in the past years have proposed that epigenetic developmental processes also affect the phenotype thus shifting the focus from a linear genotype-phenotype map to a non-linear G-P map. In this paper, we attempt at explaining the evolution of colour vision in mammals by taking LWS/ Long-wave sensitive gene under consideration.

Keywords: evolution, phenotypes, epigenetics, LWS gene, G-P map

Procedia PDF Downloads 483
2762 Multimodal Data Fusion Techniques in Audiovisual Speech Recognition

Authors: Hadeer M. Sayed, Hesham E. El Deeb, Shereen A. Taie

Abstract:

In the big data era, we are facing a diversity of datasets from different sources in different domains that describe a single life event. These datasets consist of multiple modalities, each of which has a different representation, distribution, scale, and density. Multimodal fusion is the concept of integrating information from multiple modalities in a joint representation with the goal of predicting an outcome through a classification task or regression task. In this paper, multimodal fusion techniques are classified into two main classes: model-agnostic techniques and model-based approaches. It provides a comprehensive study of recent research in each class and outlines the benefits and limitations of each of them. Furthermore, the audiovisual speech recognition task is expressed as a case study of multimodal data fusion approaches, and the open issues through the limitations of the current studies are presented. This paper can be considered a powerful guide for interested researchers in the field of multimodal data fusion and audiovisual speech recognition particularly.

Keywords: multimodal data, data fusion, audio-visual speech recognition, neural networks

Procedia PDF Downloads 81
2761 Distant Speech Recognition Using Laser Doppler Vibrometer

Authors: Yunbin Deng

Abstract:

Most existing applications of automatic speech recognition relies on cooperative subjects at a short distance to a microphone. Standoff speech recognition using microphone arrays can extend the subject to sensor distance somewhat, but it is still limited to only a few feet. As such, most deployed applications of standoff speech recognitions are limited to indoor use at short range. Moreover, these applications require air passway between the subject and the sensor to achieve reasonable signal to noise ratio. This study reports long range (50 feet) automatic speech recognition experiments using a Laser Doppler Vibrometer (LDV) sensor. This study shows that the LDV sensor modality can extend the speech acquisition standoff distance far beyond microphone arrays to hundreds of feet. In addition, LDV enables 'listening' through the windows for uncooperative subjects. This enables new capabilities in automatic audio and speech intelligence, surveillance, and reconnaissance (ISR) for law enforcement, homeland security and counter terrorism applications. The Polytec LDV model OFV-505 is used in this study. To investigate the impact of different vibrating materials, five parallel LDV speech corpora, each consisting of 630 speakers, are collected from the vibrations of a glass window, a metal plate, a plastic box, a wood slate, and a concrete wall. These are the common materials the application could encounter in a daily life. These data were compared with the microphone counterpart to manifest the impact of various materials on the spectrum of the LDV speech signal. State of the art deep neural network modeling approaches is used to conduct continuous speaker independent speech recognition on these LDV speech datasets. Preliminary phoneme recognition results using time-delay neural network, bi-directional long short term memory, and model fusion shows great promise of using LDV for long range speech recognition. To author’s best knowledge, this is the first time an LDV is reported for long distance speech recognition application.

Keywords: covert speech acquisition, distant speech recognition, DSR, laser Doppler vibrometer, LDV, speech intelligence surveillance and reconnaissance, ISR

Procedia PDF Downloads 153
2760 Interactive Shadow Play Animation System

Authors: Bo Wan, Xiu Wen, Lingling An, Xiaoling Ding

Abstract:

The paper describes a Chinese shadow play animation system based on Kinect. Users, without any professional training, can personally manipulate the shadow characters to finish a shadow play performance by their body actions and get a shadow play video through giving the record command to our system if they want. In our system, Kinect is responsible for capturing human movement and voice commands data. Gesture recognition module is used to control the change of the shadow play scenes. After packaging the data from Kinect and the recognition result from gesture recognition module, VRPN transmits them to the server-side. At last, the server-side uses the information to control the motion of shadow characters and video recording. This system not only achieves human-computer interaction, but also realizes the interaction between people. It brings an entertaining experience to users and easy to operate for all ages. Even more important is that the application background of Chinese shadow play embodies the protection of the art of shadow play animation.

Keywords: hadow play animation, Kinect, gesture recognition, VRPN, HCI

Procedia PDF Downloads 371
2759 Detection of Elephant Endotheliotropic Herpes Virus in a Wild Asian Elephant Calf in Thailand by Using Real-Time PCR

Authors: Bopit Puyati, Anchittha Kaewchana, Nuntita Ruksachat

Abstract:

In January 2018, a male wild elephant, approximately 2 years old, was found dead in Phu Luang Wildlife Sanctuary, Loei province. The elephant was likely to die around 2 weeks earlier. The carcass was decayed without any signs of attack or bullet. No organs were removed. A deadly viral disease was suspected. Different organs including lung, liver, intestine and tongue were collected and submitted to the veterinary research and development center, Surin province for viral detection. The samples were then examined with real-time PCR for detecting U41 Major DNA binding protein (MDBP) gene and with conventional PCR for the presence of specific polymerase gene. We used tumor necrosis factor (TNF) gene as the internal control. In our real-time PCR, elephant endotheliotropic herpesvirus (EEHV) was recovered from lung, liver, and tongue whereas only tongue provided a positive result in the conventional PCR. All samples were positive with TNF gene detection. To our knowledge, this is the first report of EEHV detection in wild elephant in Thailand. EEHV surveillance in this wild population is strongly suggested. Linkage between EEHV in wild and domestic elephants should be further explored.

Keywords: elephant endotheliotropic herpes virus, PCR, Thailand, wild Asian elephant

Procedia PDF Downloads 112
2758 Effective Stacking of Deep Neural Models for Automated Object Recognition in Retail Stores

Authors: Ankit Sinha, Soham Banerjee, Pratik Chattopadhyay

Abstract:

Automated product recognition in retail stores is an important real-world application in the domain of Computer Vision and Pattern Recognition. In this paper, we consider the problem of automatically identifying the classes of the products placed on racks in retail stores from an image of the rack and information about the query/product images. We improve upon the existing approaches in terms of effectiveness and memory requirement by developing a two-stage object detection and recognition pipeline comprising of a Faster-RCNN-based object localizer that detects the object regions in the rack image and a ResNet-18-based image encoder that classifies the detected regions into the appropriate classes. Each of the models is fine-tuned using appropriate data sets for better prediction and data augmentation is performed on each query image to prepare an extensive gallery set for fine-tuning the ResNet-18-based product recognition model. This encoder is trained using a triplet loss function following the strategy of online-hard-negative-mining for improved prediction. The proposed models are lightweight and can be connected in an end-to-end manner during deployment to automatically identify each product object placed in a rack image. Extensive experiments using Grozi-32k and GP-180 data sets verify the effectiveness of the proposed model.

Keywords: retail stores, faster-RCNN, object localization, ResNet-18, triplet loss, data augmentation, product recognition

Procedia PDF Downloads 118