Search results for: genome editing
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 442

Search results for: genome editing

262 Deleterious SNP’s Detection Using Machine Learning

Authors: Hamza Zidoum

Abstract:

This paper investigates the impact of human genetic variation on the function of human proteins using machine-learning algorithms. Single-Nucleotide Polymorphism represents the most common form of human genome variation. We focus on the single amino-acid polymorphism located in the coding region as they can affect the protein function leading to pathologic phenotypic change. We use several supervised Machine Learning methods to identify structural properties correlated with increased risk of the missense mutation being damaging. SVM associated with Principal Component Analysis give the best performance.

Keywords: single-nucleotide polymorphism, machine learning, feature selection, SVM

Procedia PDF Downloads 350
261 In Silico Screening, Identification and Validation of Cryptosporidium hominis Hypothetical Protein and Virtual Screening of Inhibitors as Therapeutics

Authors: Arpit Kumar Shrivastava, Subrat Kumar, Rajani Kanta Mohapatra, Priyadarshi Soumyaranjan Sahu

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Computational approaches to predict structure, function and other biological characteristics of proteins are becoming more common in comparison to the traditional methods in drug discovery. Cryptosporidiosis is a major zoonotic diarrheal disease particularly in children, which is caused primarily by Cryptosporidium hominis and Cryptosporidium parvum. Currently, there are no vaccines for cryptosporidiosis and recommended drugs are not effective. With the availability of complete genome sequence of C. hominis, new targets have been recognized for the development of effective and better drugs and/or vaccines. We identified a unique hypothetical epitopic protein in C. hominis genome through BLASTP analysis. A 3D model of the hypothetical protein was generated using I-Tasser server through threading methodology. The quality of the model was validated through Ramachandran plot by PROCHECK server. The functional annotation of the hypothetical protein through DALI server revealed structural similarity with human Transportin 3. Phylogenetic analysis for this hypothetical protein also showed C. hominis hypothetical protein (CUV04613) was the closely related to human transportin 3 protein. The 3D protein model is further subjected to virtual screening study with inhibitors from the Zinc Database by using Dock Blaster software. Docking study reported N-(3-chlorobenzyl) ethane-1,2-diamine as the best inhibitor in terms of docking score. Docking analysis elucidated that Leu 525, Ile 526, Glu 528, Glu 529 are critical residues for ligand–receptor interactions. The molecular dynamic simulation was done to access the reliability of the binding pose of inhibitor and protein complex using GROMACS software at 10ns time point. Trajectories were analyzed at each 2.5 ns time interval, among which, H-bond with LEU-525 and GLY- 530 are significantly present in MD trajectories. Furthermore, antigenic determinants of the protein were determined with the help of DNA Star software. Our study findings showed a great potential in order to provide insights in the development of new drug(s) or vaccine(s) for control as well as prevention of cryptosporidiosis among humans and animals.

Keywords: cryptosporidium hominis, hypothetical protein, molecular docking, molecular dynamics simulation

Procedia PDF Downloads 343
260 ‘Saying’ the Nuclear Power in France: Evolution of the Images and Perceptions of a Sensitive Theme

Authors: Jandot Aurélia

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As the nuclear power is a sensitive field leading to controversy, the quality of the communication about it is important. Between 1965 and 1981, in France, this one had gradually changed. This change is studied here in the main French news magazine L’Express, in connection with several parameters. As this represents a huge number of copies and occurrences, thus a considerable amount of information; this paper is focused on the main articles as well as the main “mental images”. These ones are important, as their aim is to direct the thought of the readers, and as they have led the public awareness to evolve. Over this 17 years, two trends are in confrontation: The first one is promoting the perception of the nuclear power, while the second one is discrediting it. These trends are organized in two axes: the evolution of engineering, and the risks. In both cases, the changes in the language allow discerning the deepest intentions of the magazine editing, over a period when the nuclear technology, to there a laboratory object accompanied with mystery and secret, has become a social issue seemingly open to all.

Keywords: French news magazine, mental images, nuclear power, public awareness

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259 Genomic Characterisation of Equine Sarcoid-derived Bovine Papillomavirus Type 1 and 2 Using Nanopore-Based Sequencing

Authors: Lien Gysens, Bert Vanmechelen, Maarten Haspeslagh, Piet Maes, Ann Martens

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Bovine papillomavirus (BPV) types 1 and 2 play a central role in the etiology of the most common neoplasm in horses, the equine sarcoid. The unknown mechanism behind the unique variety in a clinical presentation on the one hand and the host-dependent clinical outcome of BPV-1 infection, on the other hand, indicate the involvement of additional factors. Earlier studies have reported the potential functional significance of intratypic sequence variants, along with the existence of sarcoid-sourced BPV variants. Therefore, intratypic sequence variation seems to be an important emerging viral factor. This study aimed to give a broad insight in sarcoid-sourced BPV variation and explore its potential association with disease presentation. In order to do this, a nanopore sequencing approach was successfully optimized for screening a wide spectrum of clinical samples. Specimens of each tumour were initially screened for BPV-1/-2 by quantitative real-time PCR. A custom-designed primer set was used on BPV-positive samples to amplify the complete viral genome in two multiplex PCR reactions, resulting in a set of overlapping amplicons. For phylogenetic analysis, separate alignments were made of all available complete genome sequences for BPV-1/-2. The resulting alignments were used to infer Bayesian phylogenetic trees. We found substantial genetic variation among sarcoid-derived BPV-1, although this variation could not be linked to disease severity. Several of the BPV-1 genomes had multiple major deletions. Remarkably, the majority of the cluster within the region coding for late viral genes. Together with the extensiveness (up to 603 nucleotides) of the described deletions, this suggests an altered function of L1/L2 in disease pathogenesis. By generating a significant amount of complete-length BPV genomes, we succeeded in introducing next-generation sequencing into veterinary research focusing on the equine sarcoid, thus facilitating the first report of both nanopore-based sequencing of complete sarcoid-sourced BPV-1/-2 and the simultaneous nanopore sequencing of multiple complete genomes originating from a single clinical sample.

Keywords: Bovine papillomavirus, equine sarcoid, horse, nanopore sequencing, phylogenetic analysis

Procedia PDF Downloads 151
258 Transcriptomic Analysis of Acanthamoeba castellanii Virulence Alteration by Epigenetic DNA Methylation

Authors: Yi-Hao Wong, Li-Li Chan, Chee-Onn Leong, Stephen Ambu, Joon-Wah Mak, Priyasashi Sahu

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Background: Acanthamoeba is a genus of amoebae which lives as a free-living in nature or as a human pathogen that causes severe brain and eye infections. Virulence potential of Acanthamoeba is not constant and can change with growth conditions. DNA methylation, an epigenetic process which adds methyl groups to DNA, is used by eukaryotic cells, including several human parasites to control their gene expression. We used qPCR, siRNA gene silencing, and RNA sequencing (RNA-Seq) to study DNA-methyltransferase gene family (DNMT) in order to indicate the possibility of its involvement in programming Acanthamoeba virulence potential. Methods: A virulence-attenuated Acanthamoeba isolate (designation: ATCC; original isolate: ATCC 50492) was subjected to mouse passages to restore its pathogenicity; a virulence-reactivated isolate (designation: AC/5) was generated. Several established factors associated with Acanthamoeba virulence phenotype were examined to confirm the succession of reactivation process. Differential gene expression of DNMT between ATCC and AC/5 isolates was performed by qPCR. Silencing on DNMT gene expression in AC/5 isolate was achieved by siRNA duplex. Total RNAs extracted from ATCC, AC/5, and siRNA-treated (designation: si-146) were subjected to RNA-Seq for comparative transcriptomic analysis in order to identify the genome-wide effect of DNMT in regulating Acanthamoeba gene expression. qPCR was performed to validate the RNA-Seq results. Results: Physiological and cytophatic assays demonstrated an increased in virulence potential of AC/5 isolate after mouse passages. DNMT gene expression was significantly higher in AC/5 compared to ATCC isolate (p ≤ 0.01) by qPCR. si-146 duplex reduced DNMT gene expression in AC/5 isolate by 30%. Comparative transcriptome analysis identified the differentially expressed genes, with 3768 genes in AC/5 vs ATCC isolate; 2102 genes in si-146 vs AC/5 isolate and 3422 genes in si-146 vs ATCC isolate, respectively (fold-change of ≥ 2 or ≤ 0.5, p-value adjusted (padj) < 0.05). Of these, 840 and 1262 genes were upregulated and downregulated, respectively, in si-146 vs AC/5 isolate. Eukaryotic orthologous group (KOG) assignments revealed a higher percentage of downregulated gene expression in si-146 compared to AC/5 isolate, were related to posttranslational modification, signal transduction and energy production. Gene Ontology (GO) terms for those downregulated genes shown were associated with transport activity, oxidation-reduction process, and metabolic process. Among these downregulated genes were putative genes encoded for heat shock proteins, transporters, ubiquitin-related proteins, proteins for vesicular trafficking (small GTPases), and oxidoreductases. Functional analysis of similar predicted proteins had been described in other parasitic protozoa for their survival and pathogenicity. Decreased expression of these genes in si146-treated isolate may account in part for Acanthamoeba reduced pathogenicity. qPCR on 6 selected genes upregulated in AC/5 compared to ATCC isolate corroborated the RNA sequencing findings, indicating a good concordance between these two analyses. Conclusion: To the best of our knowledge, this study represents the first genome-wide analysis of DNA methylation and its effects on gene expression in Acanthamoeba spp. The present data indicate that DNA methylation has substantial effect on global gene expression, allowing further dissection of the genome-wide effects of DNA-methyltransferase gene in regulating Acanthamoeba pathogenicity.

Keywords: Acanthamoeba, DNA methylation, RNA sequencing, virulence

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257 Technology Impact in Learning and Teaching English Language Writing

Authors: Laura Naka

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The invention of computer writing programs has changed the way of teaching second language writing. This artificial intelligence engine can provide students with feedback on their essays, on their grammatical and spelling errors, convenient writing and editing tools to facilitate student’s writing process. However, it is not yet proved if this technology is helping students to improve their writing skills. There are several programs that are of great assistance for students concerning their writing skills. New technology provides students with different software programs which enable them to be more creative, to express their opinions and ideas in words, pictures and sounds, but at the end main and most correct feedback should be given by their teachers. No matter how new technology affects in writing skills, always comes from their teachers. This research will try to present some of the advantages and disadvantages that new technology has in writing process for students. The research takes place in the University of Gjakova ‘’Fehmi Agani’’ Faculty of Education-Preschool Program. The research aims to provide random sample response by using questionnaires and observation.

Keywords: English language learning, technology, academic writing, teaching L2.

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256 Prevalence and Mechanisms of Antibiotic Resistance in Escherichia coli Isolated from Mastitic Dairy Cattle in Canada

Authors: Satwik Majumder, Dongyun Jung, Jennifer Ronholm, Saji George

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Bovine mastitis is the most common infectious disease in dairy cattle, with major economic implications for the dairy industry worldwide. Continuous monitoring for the emergence of antimicrobial resistance (AMR) among bacterial isolates from dairy farms is vital not only for animal husbandry but also for public health. In this study, the prevalence of AMR in 113 Escherichia coli isolates from cases of bovine clinical mastitis in Canada was investigated. Kirby-Bauer disk diffusion test with 18 antibiotics and microdilution method with three heavy metals (copper, zinc, and silver) was performed to determine the antibiotic and heavy-metal susceptibility. Resistant strains were assessed for efflux and ß-lactamase activities besides assessing biofilm formation and hemolysis. Whole-genome sequences for each of the isolates were examined to detect the presence of genes corresponding to the observed AMR and virulence factors. Phenotypic analysis revealed that 32 isolates were resistant to one or more antibiotics, and 107 showed resistance against at least one heavy metal. Quinolones and silver were the most efficient against the tested isolates. Among the AMR isolates, AcrAB-TolC efflux activity and ß-lactamase enzyme activities were detected in 13 and 14 isolates, respectively. All isolates produced biofilm but with different capacities, and 33 isolates showed α-hemolysin activity. A positive correlation (Pearson r = +0.89) between efflux pump activity and quantity of biofilm was observed. Genes associated with aggregation, adhesion, cyclic di-GMP, quorum sensing were detected in the AMR isolates, corroborating phenotype observations. This investigation showed the prevalence of AMR in E. coli isolates from bovine clinical mastitis. The results also suggest the inadequacy of antimicrobials with a single mode of action to curtail AMR bacteria with multiple mechanisms of resistance and virulence factors. Therefore, it calls for combinatorial therapy for the effective management of AMR infections in dairy farms and combats its potential transmission to the food supply chain through milk and dairy products.

Keywords: antimicrobial resistance, E. coli, bovine mastitis, antibiotics, heavy-metals, efflux pump, ß-lactamase enzyme, biofilm, whole-genome sequencing

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255 A Novel Probabilistic Spatial Locality of Reference Technique for Automatic Cleansing of Digital Maps

Authors: A. Abdullah, S. Abushalmat, A. Bakshwain, A. Basuhail, A. Aslam

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GIS (Geographic Information System) applications require geo-referenced data, this data could be available as databases or in the form of digital or hard-copy agro-meteorological maps. These parameter maps are color-coded with different regions corresponding to different parameter values, converting these maps into a database is not very difficult. However, text and different planimetric elements overlaid on these maps makes an accurate image to database conversion a challenging problem. The reason being, it is almost impossible to exactly replace what was underneath the text or icons; thus, pointing to the need for inpainting. In this paper, we propose a probabilistic inpainting approach that uses the probability of spatial locality of colors in the map for replacing overlaid elements with underlying color. We tested the limits of our proposed technique using non-textual simulated data and compared text removing results with a popular image editing tool using public domain data with promising results.

Keywords: noise, image, GIS, digital map, inpainting

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254 Approaching the Words Denoting Cognitive Activity in Vietnamese Language in Comparison with English Language

Authors: Thi Phuong Ly Tran

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Being a basic and unique to human beings, cognitive activity possesses spiritualistic characteristics and is conveyed through languages. Words that represent rational cognition or processes related to rationality as follow: know, think, understand, doubt, be afraid, remember, forget, think (that), realize (that), find (that), etc. can reflect the process by which human beings have transformed cognitive activities into diversified and delicate manners through linguistic tasks. In this research article, applying the descriptive method and comparative method, we would like to utilize the application of the theoretical system of linguistic characteristics of cognitive verbs in Vietnamese language in comparison with English language. These achievements of this article will meaningfully contribute to highlight characteristics of Vietnamese language and identify the similarities and differences in the linguistic processes of Vietnamese and English people as well as supply more knowledge for social requirements such as foreign language learning, dictionary editing, language teaching in schools.

Keywords: cognitive activity, cognitive perspective, Vietnamese language, English language

Procedia PDF Downloads 182
253 Assisting Dating of Greek Papyri Images with Deep Learning

Authors: Asimina Paparrigopoulou, John Pavlopoulos, Maria Konstantinidou

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Dating papyri accurately is crucial not only to editing their texts but also for our understanding of palaeography and the history of writing, ancient scholarship, material culture, networks in antiquity, etc. Most ancient manuscripts offer little evidence regarding the time of their production, forcing papyrologists to date them on palaeographical grounds, a method often criticized for its subjectivity. By experimenting with data obtained from the Collaborative Database of Dateable Greek Bookhands and the PapPal online collections of objectively dated Greek papyri, this study shows that deep learning dating models, pre-trained on generic images, can achieve accurate chronological estimates for a test subset (67,97% accuracy for book hands and 55,25% for documents). To compare the estimates of these models with those of humans, experts were asked to complete a questionnaire with samples of literary and documentary hands that had to be sorted chronologically by century. The same samples were dated by the models in question. The results are presented and analysed.

Keywords: image classification, papyri images, dating

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252 Towards End-To-End Disease Prediction from Raw Metagenomic Data

Authors: Maxence Queyrel, Edi Prifti, Alexandre Templier, Jean-Daniel Zucker

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Analysis of the human microbiome using metagenomic sequencing data has demonstrated high ability in discriminating various human diseases. Raw metagenomic sequencing data require multiple complex and computationally heavy bioinformatics steps prior to data analysis. Such data contain millions of short sequences read from the fragmented DNA sequences and stored as fastq files. Conventional processing pipelines consist in multiple steps including quality control, filtering, alignment of sequences against genomic catalogs (genes, species, taxonomic levels, functional pathways, etc.). These pipelines are complex to use, time consuming and rely on a large number of parameters that often provide variability and impact the estimation of the microbiome elements. Training Deep Neural Networks directly from raw sequencing data is a promising approach to bypass some of the challenges associated with mainstream bioinformatics pipelines. Most of these methods use the concept of word and sentence embeddings that create a meaningful and numerical representation of DNA sequences, while extracting features and reducing the dimensionality of the data. In this paper we present an end-to-end approach that classifies patients into disease groups directly from raw metagenomic reads: metagenome2vec. This approach is composed of four steps (i) generating a vocabulary of k-mers and learning their numerical embeddings; (ii) learning DNA sequence (read) embeddings; (iii) identifying the genome from which the sequence is most likely to come and (iv) training a multiple instance learning classifier which predicts the phenotype based on the vector representation of the raw data. An attention mechanism is applied in the network so that the model can be interpreted, assigning a weight to the influence of the prediction for each genome. Using two public real-life data-sets as well a simulated one, we demonstrated that this original approach reaches high performance, comparable with the state-of-the-art methods applied directly on processed data though mainstream bioinformatics workflows. These results are encouraging for this proof of concept work. We believe that with further dedication, the DNN models have the potential to surpass mainstream bioinformatics workflows in disease classification tasks.

Keywords: deep learning, disease prediction, end-to-end machine learning, metagenomics, multiple instance learning, precision medicine

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251 The Temporal Dimension of Narratives: A Construct of Qualitative Time

Authors: Ani Thomas

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Every narrative is a temporal construct. Every narrative creates a qualitative experience of time for the viewer. The paper argues for the concept of a qualified time that emerges from the interaction between the narrative and the audience. The paper also challenges the conventional understanding of narrative time as either story time, real time or discourse time. Looking at narratives through the medium of Cinema, the study examines how narratives create and manipulate duration or durée, the qualitative experience of time as theorized by Henri Bergson. The paper further analyzes how Cinema and, by extension, narratives are nothing but Durée and the filmmaker, the artist of durée, who shape and manipulate the perception and emotions of the viewer through the manipulation and construction of durée. The paper draws on cinematic works to look at the techniques to demonstrate how filmmakers use, for example, editing, sound, compositional and production narratives etc., to create various modes of durée that challenge, amplify or unsettle the viewer’s sense of time. Bringing together the Viewer’s durée and exploring its interaction with the narrative construct, the paper explores the emergence of the new qualitative time, the narrative durée, that defines the audience experience.

Keywords: cinema, time, bergson, duree

Procedia PDF Downloads 125
250 Modeling Competition Between Subpopulations with Variable DNA Content in Resource-Limited Microenvironments

Authors: Parag Katira, Frederika Rentzeperis, Zuzanna Nowicka, Giada Fiandaca, Thomas Veith, Jack Farinhas, Noemi Andor

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Resource limitations shape the outcome of competitions between genetically heterogeneous pre-malignant cells. One example of such heterogeneity is in the ploidy (DNA content) of pre-malignant cells. A whole-genome duplication (WGD) transforms a diploid cell into a tetraploid one and has been detected in 28-56% of human cancers. If a tetraploid subclone expands, it consistently does so early in tumor evolution, when cell density is still low, and competition for nutrients is comparatively weak – an observation confirmed for several tumor types. WGD+ cells need more resources to synthesize increasing amounts of DNA, RNA, and proteins. To quantify resource limitations and how they relate to ploidy, we performed a PAN cancer analysis of WGD, PET/CT, and MRI scans. Segmentation of >20 different organs from >900 PET/CT scans were performed with MOOSE. We observed a strong correlation between organ-wide population-average estimates of Oxygen and the average ploidy of cancers growing in the respective organ (Pearson R = 0.66; P= 0.001). In-vitro experiments using near-diploid and near-tetraploid lineages derived from a breast cancer cell line supported the hypothesis that DNA content influences Glucose- and Oxygen-dependent proliferation-, death- and migration rates. To model how subpopulations with variable DNA content compete in the resource-limited environment of the human brain, we developed a stochastic state-space model of the brain (S3MB). The model discretizes the brain into voxels, whereby the state of each voxel is defined by 8+ variables that are updated over time: stiffness, Oxygen, phosphate, glucose, vasculature, dead cells, migrating cells and proliferating cells of various DNA content, and treat conditions such as radiotherapy and chemotherapy. Well-established Fokker-Planck partial differential equations govern the distribution of resources and cells across voxels. We applied S3MB on sequencing and imaging data obtained from a primary GBM patient. We performed whole genome sequencing (WGS) of four surgical specimens collected during the 1ˢᵗ and 2ⁿᵈ surgeries of the GBM and used HATCHET to quantify its clonal composition and how it changes between the two surgeries. HATCHET identified two aneuploid subpopulations of ploidy 1.98 and 2.29, respectively. The low-ploidy clone was dominant at the time of the first surgery and became even more dominant upon recurrence. MRI images were available before and after each surgery and registered to MNI space. The S3MB domain was initiated from 4mm³ voxels of the MNI space. T1 post and T2 flair scan acquired after the 1ˢᵗ surgery informed tumor cell densities per voxel. Magnetic Resonance Elastography scans and PET/CT scans informed stiffness and Glucose access per voxel. We performed a parameter search to recapitulate the GBM’s tumor cell density and ploidy composition before the 2ⁿᵈ surgery. Results suggest that the high-ploidy subpopulation had a higher Glucose-dependent proliferation rate (0.70 vs. 0.49), but a lower Glucose-dependent death rate (0.47 vs. 1.42). These differences resulted in spatial differences in the distribution of the two subpopulations. Our results contribute to a better understanding of how genomics and microenvironments interact to shape cell fate decisions and could help pave the way to therapeutic strategies that mimic prognostically favorable environments.

Keywords: tumor evolution, intra-tumor heterogeneity, whole-genome doubling, mathematical modeling

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249 Filmmaking with a Smartphone and National Cinema of Pakistan

Authors: Ahmad Bilal

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Digital and convergent media can be helpful in terms of acquiring film production skills and knowledge, and it has also reduced the cost of production. Thus, allowing filmmakers greater opportunities and access to the medium of film. Both these dimensions of new and convergent media have been challenging the established cinema of Pakistan, as traditionally, it has been controlled by the authorities through censorship policies. The use of the smartphone as a movie camera, editing machine, and a transmitter can further challenge the control in a postcolonial society. To explore the impact of new and convergent media on the art of filmmaking, a film 'Sohni Dharti: An untrue story' is produced. It is shot both on a smartphone and a Digital Single Lens Reflex Camera (DSLR), with almost zero budgets. It is distributed through Vimeo from Pakistan. This process reveals how the technologies that are available today, and the increased knowledge of film production that they bring, allow a more inclusive experience of the film production and distribution. At the same time, however, it also discloses the limitations that accompany new technologies within the context of a postcolonial society. This paper will investigate the role of technology to bring filmmaking at a level of pencil and paper.

Keywords: convergent media, filmmaking, smartphone, Pakistan

Procedia PDF Downloads 251
248 Integration of Microarray Data into a Genome-Scale Metabolic Model to Study Flux Distribution after Gene Knockout

Authors: Mona Heydari, Ehsan Motamedian, Seyed Abbas Shojaosadati

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Prediction of perturbations after genetic manipulation (especially gene knockout) is one of the important challenges in systems biology. In this paper, a new algorithm is introduced that integrates microarray data into the metabolic model. The algorithm was used to study the change in the cell phenotype after knockout of Gss gene in Escherichia coli BW25113. Algorithm implementation indicated that gene deletion resulted in more activation of the metabolic network. Growth yield was more and less regulating gene were identified for mutant in comparison with the wild-type strain.

Keywords: metabolic network, gene knockout, flux balance analysis, microarray data, integration

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247 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

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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

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246 Comics Scanlation and Publishing Houses Translation

Authors: Sharifa Alshahrani

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Comics is a multimodal text wherein meaning is created by taking in all modes of expression at once. It uses two different semiotic modes, the verbal and the visual modes, together to make meaning and these different semiotic modes can be socially and culturally shaped to give meaning. Therefore, comics translation cannot treat comics as a monomodal text by translating only the verbal mode inside or outside the speech balloons as the cultural differences are encoded in the visual mode as well. Due to the development of the internet and editing software, comics translation is not anymore confined to the publishing houses and official translation as scanlation, or the fan translation took the initiative in translating comics for being emotionally attracted to the culture and genre. Scanlation is carried out by volunteering fans who translate out of passion. However, quality is one of the debatable issues relating to scanlation and fan translation. This study will investigate how the dynamic multimodal relationship in comics is exploited and interpreted in the translation by exploring the translation strategies and procedures adopted by the publishing houses and scanlation in interpreting comics into Arabic using three analytical frameworks; cultural references model, multimodal relation model and translation strategies and procedures models.

Keywords: comics, multimodality, translation, scanlation

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245 PCR Based DNA Analysis in Detecting P53 Mutation in Human Breast Cancer (MDA-468)

Authors: Debbarma Asis, Guha Chandan

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Tumor Protein-53 (P53) is one of the tumor suppressor proteins. P53 regulates the cell cycle that conserves stability by preventing genome mutation. It is named so as it runs as 53-kilodalton (kDa) protein on Polyacrylamide gel electrophoresis although the actual mass is 43.7 kDa. Experimental evidence has indicated that P53 cancer mutants loses tumor suppression activity and subsequently gain oncogenic activities to promote tumourigenesis. Tumor-specific DNA has recently been detected in the plasma of breast cancer patients. Detection of tumor-specific genetic materials in cancer patients may provide a unique and valuable tumor marker for diagnosis and prognosis. Commercially available MDA-468 breast cancer cell line was used for the proposed study.

Keywords: tumor protein (P53), cancer mutants, MDA-468, tumor suppressor gene

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244 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

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243 A Comprehensive Analysis of LACK (Leishmania Homologue of Receptors for Activated C Kinase) in the Context of Visceral Leishmaniasis

Authors: Sukrat Sinha, Abhay Kumar, Shanthy Sundaram

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The Leishmania homologue of activated C kinase (LACK) is known T cell epitope from soluble Leishmania antigens (SLA) that confers protection against Leishmania challenge. This antigen has been found to be highly conserved among Leishmania strains. LACK has been shown to be protective against L. donovani challenge. A comprehensive analysis of several LACK sequences was completed. The analysis shows a high level of conservation, lower variability and higher antigenicity in specific portions of the LACK protein. This information provides insights for the potential consideration of LACK as a putative candidate in the context of visceral Leishmaniasis vaccine target.

Keywords: bioinformatics, genome assembly, leishmania activated protein kinase c (lack), next-generation sequencing

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242 Secure Text Steganography for Microsoft Word Document

Authors: Khan Farhan Rafat, M. Junaid Hussain

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Seamless modification of an entity for the purpose of hiding a message of significance inside its substance in a manner that the embedding remains oblivious to an observer is known as steganography. Together with today's pervasive registering frameworks, steganography has developed into a science that offers an assortment of strategies for stealth correspondence over the globe that must, however, need a critical appraisal from security breach standpoint. Microsoft Word is amongst the preferably used word processing software, which comes as a part of the Microsoft Office suite. With a user-friendly graphical interface, the richness of text editing, and formatting topographies, the documents produced through this software are also most suitable for stealth communication. This research aimed not only to epitomize the fundamental concepts of steganography but also to expound on the utilization of Microsoft Word document as a carrier for furtive message exchange. The exertion is to examine contemporary message hiding schemes from security aspect so as to present the explorative discoveries and suggest enhancements which may serve a wellspring of information to encourage such futuristic research endeavors.

Keywords: hiding information in plain sight, stealth communication, oblivious information exchange, conceal, steganography

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241 Towards an Intelligent Ontology Construction Cost Estimation System: Using BIM and New Rules of Measurement Techniques

Authors: F. H. Abanda, B. Kamsu-Foguem, J. H. M. Tah

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Construction cost estimation is one of the most important aspects of construction project design. For generations, the process of cost estimating has been manual, time-consuming and error-prone. This has partly led to most cost estimates to be unclear and riddled with inaccuracies that at times lead to over- or under-estimation of construction cost. The development of standard set of measurement rules that are understandable by all those involved in a construction project, have not totally solved the challenges. Emerging Building Information Modelling (BIM) technologies can exploit standard measurement methods to automate cost estimation process and improves accuracies. This requires standard measurement methods to be structured in ontologically and machine readable format; so that BIM software packages can easily read them. Most standard measurement methods are still text-based in textbooks and require manual editing into tables or Spreadsheet during cost estimation. The aim of this study is to explore the development of an ontology based on New Rules of Measurement (NRM) commonly used in the UK for cost estimation. The methodology adopted is Methontology, one of the most widely used ontology engineering methodologies. The challenges in this exploratory study are also reported and recommendations for future studies proposed.

Keywords: BIM, construction projects, cost estimation, NRM, ontology

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240 Physicians’ Knowledge and Perception of Gene Profiling in Malaysia: A Pilot Study

Authors: Farahnaz Amini, Woo Yun Kin, Lazwani Kolandaiveloo

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

Keywords: gene profiling, knowledge, Malaysia, physician

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239 The Use of Digital Stories in the Development of Critical Literacy

Authors: Victoria Zenotz

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For Fairclough (1989) critical literacy is a tool to enable readers and writers to build up meaning in discourse. More recently other authors (Leu et al., 2004) have included the new technology context in their definition of literacy. In their view being literate nowadays means to “successfully use and adapt to the rapidly changing information and communication technologies and contexts that continuously emerge in our world and influence all areas of our personal and professional lives.” (Leu et al., 2004: 1570). In this presentation the concept of critical literacy will be related to the creation of digital stories. In the first part of the presentation concepts such as literacy and critical literacy are examined. We consider that real social practices will help learners may improve their literacy level. Accordingly, we show some research, which was conducted at a secondary school in the north of Spain (2013-2014), to illustrate how the “writing” of digital stories may contribute to the development of critical literacy. The use of several instruments allowed the collection of data at the different stages of their creative process including watching and commenting models for digital stories, planning a storyboard, creating and selecting images, adding voices and background sounds, editing and sharing the final product. The results offer some valuable insights into learners’ literacy progress.

Keywords: literacy, computer assisted language learning, esl

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238 Identifying Protein-Coding and Non-Coding Regions in Transcriptomes

Authors: Angela U. Makolo

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Protein-coding and Non-coding regions determine the biology of a sequenced transcriptome. Research advances have shown that Non-coding regions are important in disease progression and clinical diagnosis. Existing bioinformatics tools have been targeted towards Protein-coding regions alone. Therefore, there are challenges associated with gaining biological insights from transcriptome sequence data. These tools are also limited to computationally intensive sequence alignment, which is inadequate and less accurate to identify both Protein-coding and Non-coding regions. Alignment-free techniques can overcome the limitation of identifying both regions. Therefore, this study was designed to develop an efficient sequence alignment-free model for identifying both Protein-coding and Non-coding regions in sequenced transcriptomes. Feature grouping and randomization procedures were applied to the input transcriptomes (37,503 data points). Successive iterations were carried out to compute the gradient vector that converged the developed Protein-coding and Non-coding Region Identifier (PNRI) model to the approximate coefficient vector. The logistic regression algorithm was used with a sigmoid activation function. A parameter vector was estimated for every sample in 37,503 data points in a bid to reduce the generalization error and cost. Maximum Likelihood Estimation (MLE) was used for parameter estimation by taking the log-likelihood of six features and combining them into a summation function. Dynamic thresholding was used to classify the Protein-coding and Non-coding regions, and the Receiver Operating Characteristic (ROC) curve was determined. The generalization performance of PNRI was determined in terms of F1 score, accuracy, sensitivity, and specificity. The average generalization performance of PNRI was determined using a benchmark of multi-species organisms. The generalization error for identifying Protein-coding and Non-coding regions decreased from 0.514 to 0.508 and to 0.378, respectively, after three iterations. The cost (difference between the predicted and the actual outcome) also decreased from 1.446 to 0.842 and to 0.718, respectively, for the first, second and third iterations. The iterations terminated at the 390th epoch, having an error of 0.036 and a cost of 0.316. The computed elements of the parameter vector that maximized the objective function were 0.043, 0.519, 0.715, 0.878, 1.157, and 2.575. The PNRI gave an ROC of 0.97, indicating an improved predictive ability. The PNRI identified both Protein-coding and Non-coding regions with an F1 score of 0.970, accuracy (0.969), sensitivity (0.966), and specificity of 0.973. Using 13 non-human multi-species model organisms, the average generalization performance of the traditional method was 74.4%, while that of the developed model was 85.2%, thereby making the developed model better in the identification of Protein-coding and Non-coding regions in transcriptomes. The developed Protein-coding and Non-coding region identifier model efficiently identified the Protein-coding and Non-coding transcriptomic regions. It could be used in genome annotation and in the analysis of transcriptomes.

Keywords: sequence alignment-free model, dynamic thresholding classification, input randomization, genome annotation

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237 An Introduction to E-Content Producing Algorithm for Screen-Recorded Videos

Authors: Jamileh Darsareh, Mohammad Nikafrooz

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Some teachers and e-content producers, based on their experiences, try to produce educational videos using screen recording software. There are many challenges that they may encounter while producing screen-recorded videos. These are in the domains of technical and pedagogical challenges like designing the roadmap, preparing the screen, setting the recording software and recording the screen, editing, etc. This study is a descriptive study and tries to present some procedures for producing acceptable and well-made videos. These procedures are presented in the form of an algorithm for producing screen-recorded video. This algorithm presents the main producing phases, including design, pre-production, production, post-production, and distribution. These phases consist of some steps which are supported by several technical and pedagogical considerations. Following these phases and steps according to the suggested order helps the producers to produce their intended and desired video by saving time and also facing fewer technical problems. It is expected that by using this algorithm, e-content producers and teachers gain better performance in producing educational videos.

Keywords: e-content producing algorithm, screen-recorded videos, screen recording software, technical and pedagogical considerations

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236 Experimental Film Class: Watbangkapom School, Samut Songkhram

Authors: J. Areerut

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Experimental Film Class Project is supported by the Institute for Research and Development at Suan Sunandha Rajabhat University. This project is purported to provide academic and professional services to improve the quality standards of the community and locals in accordance with the mission of the university, which is to improve and expand knowledge for the community and to develop and transfer such knowledge and professions to the next generation. Eventually, it leads to sustainable development because the development of human resources is deemed as the key for sustainable development. Moreover, the Experimental Film Class is an integral part of the teaching of film production at Suan Sunandha International School of Art (SISA). By means of giving opportunities to students for participation in projects by sharing experience, skill and knowledge and participation in field activities, it helps students in the film production major to enhance their abilities and potentials as preparation for their readiness in the marketplace. Additionally, in this class, we provide basic film knowledge, screenwriting techniques, editing and subtitles including uploading videos on social media such as YouTube and Facebook for the participant students.

Keywords: experimental film class, Watbangkapom School, participant students, basic of film production, film workshop

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235 Smartphone Photography in Urban China

Authors: Wen Zhang

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The smartphone plays a significant role in media convergence, and smartphone photography is reconstructing the way we communicate and think. This article aims to explore the smartphone photography practices of urban Chinese smartphone users and images produced by smartphones from a techno-cultural perspective. The analysis consists of two types of data: One is a semi-structured interview of 21 participants, and the other consists of the images created by the participants. The findings are organised in two parts. The first part summarises the current tendencies of capturing, editing, sharing and archiving digital images via smartphones. The second part shows that food and selfie/anti-selfie are the preferred subjects of smartphone photographic images from a technical and multi-purpose perspective and demonstrates that screenshots and image texts are new genres of non-photographic images that are frequently made by smartphones, which contributes to improving operational efficiency, disseminating information and sharing knowledge. The analyses illustrate the positive impacts between smartphones and photography enthusiasm and practices based on the diffusion of innovation theory, which also makes us rethink the value of photographs and the practice of ‘photographic seeing’ from the screen itself.

Keywords: digital photography, image-text, media convergence, photographic- seeing, selfie/anti-selfie, smartphone, technological innovation

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234 Framework to Organize Community-Led Project-Based Learning at a Massive Scale of 900 Indian Villages

Authors: Ayesha Selwyn, Annapoorni Chandrashekar, Kumar Ashwarya, Nishant Baghel

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Project-based learning (PBL) activities are typically implemented in technology-enabled schools by highly trained teachers. In rural India, students have limited access to technology and quality education. Implementing typical PBL activities is challenging. This study details how Pratham Education Foundation’s Hybrid Learning model was used to implement two PBL activities related to music in 900 remote Indian villages with 46,000 students aged 10-14. The activities were completed by 69% of groups that submitted a total of 15,000 videos (completed projects). Pratham’s H-Learning model reaches 100,000 students aged 3-14 in 900 Indian villages. The community-driven model engages students in 20,000 self-organized groups outside of school. The students are guided by 6,000 youth volunteers and 100 facilitators. The students partake in learning activities across subjects with the support of community stakeholders and offline digital content on shared Android tablets. A training and implementation toolkit for PBL activities is designed by subject experts. This toolkit is essential in ensuring efficient implementation of activities as facilitators aren’t highly skilled and have limited access to training resources. The toolkit details the activity at three levels of student engagement - enrollment, participation, and completion. The subject experts train project leaders and facilitators who train youth volunteers. Volunteers need to be trained on how to execute the activity and guide students. The training is focused on building the volunteers’ capacity to enable students to solve problems, rather than developing the volunteers’ subject-related knowledge. This structure ensures that continuous intervention of subject matter experts isn’t required, and the onus of judging creativity skills is put on community members. 46,000 students in the H-Learning program were engaged in two PBL activities related to Music from April-June 2019. For one activity, students had to conduct a “musical survey” in their village by designing a survey and shooting and editing a video. This activity aimed to develop students’ information retrieval, data gathering, teamwork, communication, project management, and creativity skills. It also aimed to identify talent and document local folk music. The second activity, “Pratham Idol”, was a singing competition. Students participated in performing, producing, and editing videos. This activity aimed to develop students’ teamwork and creative skills and give students a creative outlet. Students showcased their completed projects at village fairs wherein a panel of community members evaluated the videos. The shortlisted videos from all villages were further evaluated by experts who identified students and adults to participate in advanced music workshops. The H-Learning framework enables students in low resource settings to engage in PBL and develop relevant skills by leveraging community support and using video creation as a tool. In rural India, students do not have access to high-quality education or infrastructure. Therefore designing activities that can be implemented by community members after limited training is essential. The subject experts have minimal intervention once the activity is initiated, which significantly reduces the cost of implementation and allows the activity to be implemented at a massive scale.

Keywords: community supported learning, project-based learning, self-organized learning, education technology

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233 An Experience of Translating an Excerpt from Sophie Adonon’s Echos de Femmes from French to English, Using Reverso.

Authors: Michael Ngongeh Mombe

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This Paper seeks to investigate an assertion made by some colleagues that there is no need paying a human translator to translate their literary texts, that there are softwares such as Reverso that can be used to do the translation. The main objective of this study is to examine the veracity of this assertion using Reverso to translate a literary text without any post-editing by a human translator. The work is based on two theories: Skopos and Communicative theories of translation. The work is a documentary research where data were collected from published documents in libraries, on the internet and from the translation produced by Reverso. We made a comparative text analyses of both source and target texts in a bid to highlight the weaknesses and strengths of the software. Findings of this work revealed that those who advocate the use of only Machine translation do so in ignorance of the translation mistakes usually made by the software. From the review of all the 268 segments of translation, we found out that the translation produced by Reverso is fraught with errors. We therefore recommend the use of human translators to either do the translation of their literary texts or revise the translation produced by machine to conform to the skopos of the work. This paper is based on Reverso translation. Similar works in the near future will be based on the other translation softwares to determine their weaknesses and strengths.

Keywords: machine translation, human translator, Reverso, literary text

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