Search results for: segmentation genes
1027 Expression of Inflammatory and Cell Death Genes and DNA Damage Induced by Endotoxic Shock in Laying Hens
Authors: Mariam G. Eshak, Ahmed Abbas, M. I. El-Sabry, M. M. Mashaly
Abstract:
This investigation was conducted to determine the physiological response and evaluate the expression of inflammatory and cell death genes and DNA damage induced by endotoxic shock in laying hens. Endotoxic shock was induced by a single intravenous injection of 107 Escherichia coli (E. coli,) colony/hen. In the present study, 240 forty-week-old laying hens (H&N) were randomly assigned into 2 groups with 3 replicates of 40 birds each. Hens were reared in battery cages with wire floors in an open-sided housing system under natural conditions. Housing and general management practices were similar for all groups. At 42-wk of age, 45 hens from the first group (15 replicate) were infected with E. coli, while the same number of hens from the second group was injected with saline and served as a control. Heat shock protein-70 (HSP-70) expression, plasma corticosterone concentration, body temperature, and the gene expression of bax, caspase-3 activity, P38, Interlukin-1β (Il-1β), and tumor necrosis factor alpha (TNF-α) genes and DNA damage in the brain and liver were measured. Hens treated with E. coli showed significant (P≤0.05) increase of body temperature by 1.2 ᴼC and plasma corticosterone by 3 folds compared to the controls. Further, hens injected with E.Coli showed markedly over-expression of HSP-70 and increase DNA damage in brain and liver. These results were synchronized with activating cell death program since our data showed significant (P≤0.05) high expression of bax and caspase-3 activity genes in the brain and liver. These results were related to remarkable over-inflammation gene expression of P38, IL-1β, and TNF-α in brain and liver. In conclusion, our results indicate that endotoxic shock induces inflammatory physiological response and triggers cell death program by promoting P38, IL-1β, and TNF-α gene expression in the brain and liver.Keywords: chicken, DNA damage, Escherichia coli, gene expression, inflammation
Procedia PDF Downloads 3461026 The First Complete Mitochondrial Genome of Melon Thrips, Thrips palmi (Thripinae: Thysanoptera): Vector for Tospoviruses
Authors: Kaomud Tyagi, Rajasree Chakraborty, Shantanu Kundu, Devkant Singha, Kailash Chandra, Vikas Kumar
Abstract:
The melon thrips, Thrips palmi is a serious pest of a wide range of agriculture crops and also act as vectors for plant viruses (genus Tospovirus, family Bunyaviridae). More molecular data on this species is required to understand the cryptic speciation and evolutionary affiliations. Mitochondrial genomes have been widely used in phylogenetic and evolutionary studies in insect. So far, mitogenomes of five thrips species (Anaphothrips obscurus, Frankliniella intonsa, Frankliniella occidentalis, Scirtothrips dorsalis and Thrips imaginis) is available in the GenBank database. In this study, we sequenced the first complete mitogenome T. palmi and compared it with available thrips mitogenomes. We assembled the mitogenome from the whole genome sequencing data generated using Illumina Hiseq2500. Annotation was performed using MITOS web-server to estimate the location of protein coding genes (PCGs), transfer RNA (tRNAs), ribosomal RNAs (rRNAs) and their secondary structures. The boundaries of PCGs and rRNAs was confirmed manually in NCBI. Phylogenetic analyses were performed using the 13 PCGs data using maximum likelihood (ML) in PAUP, and Bayesian inference (BI) in MrBayes 3.2. The complete mitogenome of T. palmi was 15,333 base pairs (bp), which was greater than the genomes of A. obscurus (14,890bp), F. intonsa (15,215 bp), F. occidentalis (14,889 bp) and S. dorsalis South Asia strain (SA1) (14,283 bp), but smaller than the genomes of T. imaginis (15,407 bp) and S. dorsalis East Asia strain (EA1) (15,343bp). Like in other thrips species, the mitochondrial genome of T. palmi was represented by 37 genes, including 13 PCGs, large and small ribosomal RNA (rrnL and rrnS) genes, 22 transfer RNA (tRNAs) genes (with one extra gene for trn-Serine) and two A+T-rich control regions (CR1 and CR2). Thirty one genes were observed on heavy (H) strand and six genes on the light (L) strand. The six tRNA genes (trnG,trnK, trnY, trnW, trnF, and trnH) were found to be conserved in all thrips species mitogenomes in their locations relative to a protein-coding or rRNA gene upstream or downstream. The gene arrangements of T. palmi is very close to T. imaginis except the rearrangements in tRNAs genes: trnR (arginine), and trnE (glutamic acid) were found to be located between cox3 and CR2 in T. imaginis which were translocated between atp6 and CR1 in T. palmi; trnL1 (Leucine) and trnS1(Serine) were located between atp6 and CR1 in T. imaginis which were translocated between cox3 and CR2 in T. palmi. The location of CR1 upstream of nad5 gene was suggested to be ancestral condition of the thrips species in subfamily Thripinae, was also observed in T. palmi. Both the Maximum likelihood (ML) and Bayesian Inference (BI) phylogenetic trees generated resulted in similar topologies. The T. palmi was clustered with T. imaginis. We concluded that more molecular data on the diverse thrips species from different hierarchical level is needed, to understand the phylogenetic and evolutionary relationships among them.Keywords: thrips, comparative mitogenomics, gene rearrangements, phylogenetic analysis
Procedia PDF Downloads 1681025 Cell Line Screens Identify Biomarkers of Drug Sensitivity in GLIOMA Cancer
Authors: Noora Al Muftah, Reda Rawi, Richard Thompson, Halima Bensmail
Abstract:
Clinical responses to anticancer therapies are often restricted to a subset of patients. In some cases, mutated cancer genes are potent biomarkers of response to targeted agents. There is an urgent need to identify biomarkers that predict which patients with are most likely to respond to treatment. Systematic efforts to correlate tumor mutational data with biologic dependencies may facilitate the translation of somatic mutation catalogs into meaningful biomarkers for patient stratification. To identify genomic features associated with drug sensitivity and uncover new biomarkers of sensitivity and resistance to cancer therapeutics, we have screened and integrated a panel of several hundred cancer cell lines from different databases, mutation, DNA copy number, and gene expression data for hundreds of cell lines with their responses to targeted and cytotoxic therapies with drugs under clinical and preclinical investigation. We found mutated cancer genes were associated with cellular response to most currently available Glioma cancer drugs and some frequently mutated genes were associated with sensitivity to a broad range of therapeutic agents. By linking drug activity to the functional complexity of cancer genomes, systematic pharmacogenomic profiling in cancer cell lines provides a powerful biomarker discovery platform to guide rational cancer therapeutic strategies.Keywords: cancer, gene network, Lasso, penalized regression, P-values, unbiased estimator
Procedia PDF Downloads 4091024 Detecting Memory-Related Gene Modules in sc/snRNA-seq Data by Deep-Learning
Authors: Yong Chen
Abstract:
To understand the detailed molecular mechanisms of memory formation in engram cells is one of the most fundamental questions in neuroscience. Recent single-cell RNA-seq (scRNA-seq) and single-nucleus RNA-seq (snRNA-seq) techniques have allowed us to explore the sparsely activated engram ensembles, enabling access to the molecular mechanisms that underlie experience-dependent memory formation and consolidation. However, the absence of specific and powerful computational methods to detect memory-related genes (modules) and their regulatory relationships in the sc/snRNA-seq datasets has strictly limited the analysis of underlying mechanisms and memory coding principles in mammalian brains. Here, we present a deep-learning method named SCENTBOX, to detect memory-related gene modules and causal regulatory relationships among themfromsc/snRNA-seq datasets. SCENTBOX first constructs codifferential expression gene network (CEGN) from case versus control sc/snRNA-seq datasets. It then detects the highly correlated modules of differential expression genes (DEGs) in CEGN. The deep network embedding and attention-based convolutional neural network strategies are employed to precisely detect regulatory relationships among DEG genes in a module. We applied them on scRNA-seq datasets of TRAP; Ai14 mouse neurons with fear memory and detected not only known memory-related genes, but also the modules and potential causal regulations. Our results provided novel regulations within an interesting module, including Arc, Bdnf, Creb, Dusp1, Rgs4, and Btg2. Overall, our methods provide a general computational tool for processing sc/snRNA-seq data from case versus control studie and a systematic investigation of fear-memory-related gene modules.Keywords: sc/snRNA-seq, memory formation, deep learning, gene module, causal inference
Procedia PDF Downloads 1201023 Inhibition of Streptococcus Mutans Biofilm Development of Dental Caries In Vitro and In Vivo by Trachyspermum ammi Seeds: An Approach of Alternative Medicine
Authors: Mohd Adil, Rosina Khan, Danishuddin, Asad U. Khan
Abstract:
The aim of this study was to evaluate the influence of the crude and active solvent fraction of Trachyspermum ammi on S. mutans cariogenicity, effect on expression of genes involved in biofilm formation and caries development in rats. GC–MS was carried out to identify the major components present in the crude and the active fraction of T. ammi. The crude extract and the solvent fraction exhibiting least MIC were selected for further experiments. Scanning electron microscopy was carried out to observe the effect of the extracts on S. mutans biofilm. Comparative gene expression analysis was carried out for nine selected genes. 2-Isopropyl-5-methyl-phenol was found as major compound in crude and the active fraction. Binding site of this compound within the proteins involved in biofilm formation was mapped with the help of docking studies. Real-time RT-PCR analyses revealed significant suppression of the genes involved in biofilm formation. All the test groups showed reduction in caries (smooth surface as well as sulcal surface caries) in rats. Moreover, it also provides new insight to understand the mechanism influencing biofilm formation in S. mutans. Furthermore, the data suggest the putative cariostatic properties of T. Ammi and hence can be used as an alternative medicine to prevent caries infection.Keywords: bio-film, Streptococcus mutans, dental caries, bio-informatic
Procedia PDF Downloads 4761022 The Transcriptome of Carnation (Dianthus Caryophyllus) of Elicited Cells with Fusarium Oxysporum f.sp. Dianthi
Authors: Juan Jose Filgueira, Daniela Londono-Serna, Liliana Maria Hoyos
Abstract:
Carnation (Dianthus caryophyllus) is one of the most important products of exportation in the floriculture industry worldwide. Fusariosis is the disease that causes the highest losses on farms, in particular the one produced by Fusarium oxysporum f.sp. dianthi, called vascular wilt. Gene identification and metabolic routes of the genes that participate in the building of the plant response to Fusarium are some of the current targets in the carnation breeding industry. The techniques for the identifying of resistant genes in the plants, is the analysis of the transcriptome obtained during the host-pathogen interaction. In this work, we report the cell transcriptome of different varieties of carnation that present differential response from Fusarium oxysporum f.sp. dianthi attack. The cells of the different hybrids produced in the outbreeding program were cultured in vitro and elicited with the parasite in a dual culture. The isolation and purification of mRNA was achieved by using affinity chromatography Oligo dT columns and the transcriptomes were obtained by using Illumina NGS techniques. A total of 85,669 unigenes were detected in all the transcriptomes analyzed and 31,000 annotations were found in databases, which correspond to 36.2%. The library construction of genic expression techniques used, allowed to recognize the variation in the expression of genes such as Germin-like protein, Glycosyl hydrolase family and Cinnamate 4-hydroxylase. These have been reported in this study for the first time as part of the response mechanism to the presence of Fusarium oxysporum.Keywords: Carnation, Fusarium, vascular wilt, transcriptome
Procedia PDF Downloads 1501021 Robust Segmentation of Salient Features in Automatic Breast Ultrasound (ABUS) Images
Authors: Lamees Nasser, Yago Diez, Robert Martí, Joan Martí, Ibrahim Sadek
Abstract:
Automated 3D breast ultrasound (ABUS) screening is a novel modality in medical imaging because of its common characteristics shared with other ultrasound modalities in addition to the three orthogonal planes (i.e., axial, sagittal, and coronal) that are useful in analysis of tumors. In the literature, few automatic approaches exist for typical tasks such as segmentation or registration. In this work, we deal with two problems concerning ABUS images: nipple and rib detection. Nipple and ribs are the most visible and salient features in ABUS images. Determining the nipple position plays a key role in some applications for example evaluation of registration results or lesion follow-up. We present a nipple detection algorithm based on color and shape of the nipple, besides an automatic approach to detect the ribs. In point of fact, rib detection is considered as one of the main stages in chest wall segmentation. This approach consists of four steps. First, images are normalized in order to minimize the intensity variability for a given set of regions within the same image or a set of images. Second, the normalized images are smoothed by using anisotropic diffusion filter. Next, the ribs are detected in each slice by analyzing the eigenvalues of the 3D Hessian matrix. Finally, a breast mask and a probability map of regions detected as ribs are used to remove false positives (FP). Qualitative and quantitative evaluation obtained from a total of 22 cases is performed. For all cases, the average and standard deviation of the root mean square error (RMSE) between manually annotated points placed on the rib surface and detected points on rib borders are 15.1188 mm and 14.7184 mm respectively.Keywords: Automated 3D Breast Ultrasound, Eigenvalues of Hessian matrix, Nipple detection, Rib detection
Procedia PDF Downloads 3301020 Genetic Variations of Two Casein Genes among Maghrabi Camels Reared in Egypt
Authors: Othman E. Othman, Amira M. Nowier, Medhat El-Denary
Abstract:
Camels play an important socio-economic role within the pastoral and agricultural system in the dry and semidry zones of Asia and Africa. Camels are economically important animals in Egypt where they are dual purpose animals (meat and milk). The analysis of chemical composition of camel milk showed that the total protein contents ranged from 2.4% to 5.3% and it is divided into casein and whey proteins. The casein fraction constitutes 52% to 89% of total camel milk protein and it divided into 4 fractions namely αs1, αs2, β and κ-caseins which are encoded by four tightly genes. In spite of the important role of casein genes and the effects of their genetic polymorphisms on quantitative traits and technological properties of milk, the studies for the detection of genetic polymorphism of camel milk genes are still limited. Due to this fact, this work focused - using PCR-RFP and sequencing analysis - on the identification of genetic polymorphisms and SNPs of two casein genes in Maghrabi camel breed which is a dual purpose camel breed in Egypt. The amplified fragments at 488-bp of the camel κ-CN gene were digested with AluI endonuclease. The results showed the appearance of three different genotypes in the tested animals; CC with three digested fragments at 203-, 127- and 120-bp, TT with three digested fragments at 203-, 158- and 127-bp and CT with four digested fragments at 203-, 158-, 127- and 120-bp. The frequencies of three detected genotypes were 11.0% for CC, 48.0% for TT and 41.0% for CT genotypes. The sequencing analysis of the two different alleles declared the presence of a single nucleotide polymorphism (C→T) at position 121 in the amplified fragments which is responsible for the destruction of a restriction site (AG/CT) in allele T and resulted in the presence of two different alleles C and T in tested animals. The nucleotide sequences of κ-CN alleles C and T were submitted to GenBank with the accession numbers; KU055605 and KU055606, respectively. The primers used in this study amplified 942-bp fragments spanning from exon 4 to exon 6 of camel αS1-Casein gene. The amplified fragments were digested with two different restriction enzymes; SmlI and AluI. The results of SmlI digestion did not show any restriction site whereas the digestion with AluI endonuclease revealed the presence of two restriction sites AG^CT at positions 68^69 and 631^632 yielding the presence of three digested fragments with sizes 68-, 563- and 293-bp.The nucleotide sequences of this fragment from camel αS1-Casein gene were submitted to GenBank with the accession number KU145820. In conclusion, the genetic characterization of quantitative traits genes which are associated with the production traits like milk yield and composition is considered an important step towards the genetic improvement of livestock species through the selection of superior animals depending on the favorable alleles and genotypes; marker assisted selection (MAS).Keywords: genetic polymorphism, SNP polymorphism, Maghrabi camels, κ-Casein gene, αS1-Casein gene
Procedia PDF Downloads 6131019 Identification of the Target Genes to Increase the Immunotherapy Response in Bladder Cancer Patients using Computational and Experimental Approach
Authors: Sahar Nasr, Lin Li, Edwin Wang
Abstract:
Bladder cancer (BLCA) is known as the 13th cause of death among cancer patients worldwide, and ~575,000 new BLCA cases are diagnosed each year. Urothelial carcinoma (UC) is the most prevalent subtype among BLCA patients, which can be categorized into muscle-invasive bladder cancer (MIBC) and non-muscle-invasive bladder cancer (NMIBC). Currently, various therapeutic options are available for UC patients, including (1) transurethral resection followed by intravesical instillation of chemotherapeutics or Bacillus Calmette-Guérin for NMIBC patients, (2) neoadjuvant platinum-based chemotherapy (NAC) plus radical cystectomy is the standard of care for localized MIBC patients, and (3) systematic chemotherapy for metastatic UC. However, conventional treatments may lead to several challenges for treating patients. As an illustration, some patients may suffer from recurrence of the disease after the first line of treatment. Recently, immune checkpoint therapy (ICT) has been introduced as an alternative treatment strategy for the first or second line of treatment in advanced or metastatic BLCA patients. Although ICT showed lucrative results for a fraction of BLCA patients, ~80% of patients were not responsive to it. Therefore, novel treatment methods are required to augment the ICI response rate within BLCA patients. It has been shown that the infiltration of T-cells into the tumor microenvironment (TME) is positively correlated with the response to ICT within cancerous patients. Therefore, the goal of this study is to enhance the infiltration of cytotoxic T-cells into TME through the identification of target genes within the tumor that are responsible for the non-T-cell inflamed TME and their inhibition. BLCA bulk RNA-sequencing data from The Cancer Genome Atlas (TCGA) and immune score for TCGA samples were used to determine the Pearson correlation score between the expression of different genes and immune score for each sample. The genes with strong negative correlations were selected (r < -0.2). Thereafter, the correlation between the expression of each gene and survival in BLCA patients was calculated using the TCGA data and Cox regression method. The genes that are common in both selected gene lists were chosen for further analysis. Afterward, BLCA bulk and single-cell RNA-sequencing data were ranked based on the expression of each selected gene and the top and bottom 25% samples were used for pathway enrichment analysis. If the pathways related to the T-cell infiltration (e.g., antigen presentation, interferon, or chemokine pathways) were enriched within the low-expression group, the gene was included for downstream analysis. Finally, the selected genes will be used to calculate the correlation between their expression and the infiltration rate of the activated CD+8 T-cells, natural killer cells and the activated dendric cells. A list of potential target genes has been identified and ranked based on the above-mentioned analysis and criteria. SUN-1 got the highest score within the gene list and other identified genes in the literature as benchmarks. In conclusion, inhibition of SUN1 may increase the tumor-infiltrating lymphocytes and the efficacy of ICI in BLCA patients. BLCA tumor cells with and without SUN-1 CRISPR/Cas9 knockout will be injected into the syngeneic mouse model to validate the predicted SUN-1 effect on increasing tumor-infiltrating lymphocytes.Keywords: data analysis, gene expression analysis, gene identification, immunoinformatic, functional genomics, transcriptomics
Procedia PDF Downloads 1551018 A Combined Feature Extraction and Thresholding Technique for Silence Removal in Percussive Sounds
Authors: B. Kishore Kumar, Pogula Rakesh, T. Kishore Kumar
Abstract:
The music analysis is a part of the audio content analysis used to analyze the music by using the different features of audio signal. In music analysis, the first step is to divide the music signal to different sections based on the feature profiles of the music signal. In this paper, we present a music segmentation technique that will effectively segmentize the signal and thresholding technique to remove silence from the percussive sounds produced by percussive instruments, which uses two features of music, namely signal energy and spectral centroid. The proposed method impose thresholds on both the features which will vary depends on the music signal. Depends on the threshold, silence part is removed and the segmentation is done. The effectiveness of the proposed method is analyzed using MATLAB.Keywords: percussive sounds, spectral centroid, spectral energy, silence removal, feature extraction
Procedia PDF Downloads 5931017 New Approach to Construct Phylogenetic Tree
Authors: Ouafae Baida, Najma Hamzaoui, Maha Akbib, Abdelfettah Sedqui, Abdelouahid Lyhyaoui
Abstract:
Numerous scientific works present various methods to analyze the data for several domains, specially the comparison of classifications. In our recent work, we presented a new approach to help the user choose the best classification method from the results obtained by every method, by basing itself on the distances between the trees of classification. The result of our approach was in the form of a dendrogram contains methods as a succession of connections. This approach is much needed in phylogeny analysis. This discipline is intended to analyze the sequences of biological macro molecules for information on the evolutionary history of living beings, including their relationship. The product of phylogeny analysis is a phylogenetic tree. In this paper, we recommend the use of a new method of construction the phylogenetic tree based on comparison of different classifications obtained by different molecular genes.Keywords: hierarchical classification, classification methods, structure of tree, genes, phylogenetic analysis
Procedia PDF Downloads 5101016 Segmentation of Piecewise Polynomial Regression Model by Using Reversible Jump MCMC Algorithm
Authors: Suparman
Abstract:
Piecewise polynomial regression model is very flexible model for modeling the data. If the piecewise polynomial regression model is matched against the data, its parameters are not generally known. This paper studies the parameter estimation problem of piecewise polynomial regression model. The method which is used to estimate the parameters of the piecewise polynomial regression model is Bayesian method. Unfortunately, the Bayes estimator cannot be found analytically. Reversible jump MCMC algorithm is proposed to solve this problem. Reversible jump MCMC algorithm generates the Markov chain that converges to the limit distribution of the posterior distribution of piecewise polynomial regression model parameter. The resulting Markov chain is used to calculate the Bayes estimator for the parameters of piecewise polynomial regression model.Keywords: piecewise regression, bayesian, reversible jump MCMC, segmentation
Procedia PDF Downloads 3731015 Comprehensive Multi-Omics Study Highlights Osteopontin/SPP1 in Ovarian Aging Control
Authors: Chia-Jung Li, Li-Te Lin, Kuan-Hao Tsui
Abstract:
The study identifies SPP1 as a potential gene associated with ovarian aging, revealing a significant decline in its expression in aged ovaries. SPP1, also known as osteopontin (OPN), is a multifunctional glycoprotein involved with regulatory proteins and pro-inflammatory immune chemokines. However, its genetic links to ovarian aging have not been extensively explored. Spatial transcriptomic analyses were conducted on ovaries from young and aged female mice, along with a sample from a 73-year-old individual. Additionally, single-cell RNA sequencing analysis was performed to identify associations between SPP1 and key genes. The study focused on crucial genes, including ITGAV, ITGB1, CD44, MMP3, and FN1, with a particular emphasis on the correlation between SPP1 and ITGB1. The findings indicate a significant decline in SPP1 expression in aged ovaries, which was consistent in the 73-year-old sample. Single-cell RNA sequencing unveiled associations between SPP1 and key genes, emphasizing a strong co-expression correlation between SPP1 and ITGB1. While the study provides valuable insights, further research is necessary to understand the broader implications and potential applications of SPP1 in ovarian aging. Translating these findings to clinical settings requires careful consideration. The identification of SPP1 as a gene implicated in ovarian aging opens new avenues for advancing precision medicine and refining treatment strategies for conditions related to ovarian aging.Keywords: SPP1, ovarian aging, spatial transcriptomic, single-cell RNA sequencing
Procedia PDF Downloads 351014 Image Segmentation with Deep Learning of Prostate Cancer Bone Metastases on Computed Tomography
Authors: Joseph M. Rich, Vinay A. Duddalwar, Assad A. Oberai
Abstract:
Prostate adenocarcinoma is the most common cancer in males, with osseous metastases as the commonest site of metastatic prostate carcinoma (mPC). Treatment monitoring is based on the evaluation and characterization of lesions on multiple imaging studies, including Computed Tomography (CT). Monitoring of the osseous disease burden, including follow-up of lesions and identification and characterization of new lesions, is a laborious task for radiologists. Deep learning algorithms are increasingly used to perform tasks such as identification and segmentation for osseous metastatic disease and provide accurate information regarding metastatic burden. Here, nnUNet was used to produce a model which can segment CT scan images of prostate adenocarcinoma vertebral bone metastatic lesions. nnUNet is an open-source Python package that adds optimizations to deep learning-based UNet architecture but has not been extensively combined with transfer learning techniques due to the absence of a readily available functionality of this method. The IRB-approved study data set includes imaging studies from patients with mPC who were enrolled in clinical trials at the University of Southern California (USC) Health Science Campus and Los Angeles County (LAC)/USC medical center. Manual segmentation of metastatic lesions was completed by an expert radiologist Dr. Vinay Duddalwar (20+ years in radiology and oncologic imaging), to serve as ground truths for the automated segmentation. Despite nnUNet’s success on some medical segmentation tasks, it only produced an average Dice Similarity Coefficient (DSC) of 0.31 on the USC dataset. DSC results fell in a bimodal distribution, with most scores falling either over 0.66 (reasonably accurate) or at 0 (no lesion detected). Applying more aggressive data augmentation techniques dropped the DSC to 0.15, and reducing the number of epochs reduced the DSC to below 0.1. Datasets have been identified for transfer learning, which involve balancing between size and similarity of the dataset. Identified datasets include the Pancreas data from the Medical Segmentation Decathlon, Pelvic Reference Data, and CT volumes with multiple organ segmentations (CT-ORG). Some of the challenges of producing an accurate model from the USC dataset include small dataset size (115 images), 2D data (as nnUNet generally performs better on 3D data), and the limited amount of public data capturing annotated CT images of bone lesions. Optimizations and improvements will be made by applying transfer learning and generative methods, including incorporating generative adversarial networks and diffusion models in order to augment the dataset. Performance with different libraries, including MONAI and custom architectures with Pytorch, will be compared. In the future, molecular correlations will be tracked with radiologic features for the purpose of multimodal composite biomarker identification. Once validated, these models will be incorporated into evaluation workflows to optimize radiologist evaluation. Our work demonstrates the challenges of applying automated image segmentation to small medical datasets and lays a foundation for techniques to improve performance. As machine learning models become increasingly incorporated into the workflow of radiologists, these findings will help improve the speed and accuracy of vertebral metastatic lesions detection.Keywords: deep learning, image segmentation, medicine, nnUNet, prostate carcinoma, radiomics
Procedia PDF Downloads 961013 Assessment of the Role of Plasmid in Multidrug Resistance in Extended Spectrum βEtalactamase Producing Escherichia Coli Stool Isolates from Diarrhoeal Patients in Kano Metropolis Nigeria
Authors: Abdullahi Musa, Yakubu Kukure Enebe Ibrahim, Adeshina Gujumbola
Abstract:
The emergence of multidrug resistance in clinical Escherichia coli has been associated with plasmid-mediated genes. DNA transfer among bacteria is critical to the dissemination of resistance. Plasmids have proved to be the ideal vehicles for dissemination of resistance genes. Plasmids coding for antibiotic resistance were long being recognized by many researchers globally. The study aimed at determining the antibiotic susceptibility pattern of ESBL E. coli isolates claimed to be multidrug resistance using disc diffusion method. Antibacterial activity of the test isolates was carried out using disk diffusion methods. The results showed that, majority of the multidrug resistance among clinical isolates of ESBL E. coli was as a result of acquisition of plasmid carrying antibiotic-resistance genes. Production of these ESBL enzymes by these organisms which are normally carried by plasmid and transfer from one bacterium to another has greatly contributed to the rapid spread of antibiotic resistance amongst E. coli isolates, which lead to high economic burden, increase morbidity and mortality rate, complication in therapy and limit treatment options. To curtail these problems, it is of significance to checkmate the rate at which over the counter drugs are sold and antibiotic misused in animal feeds. This will play a very important role in minimizing the spread of resistance bacterial strains in our environment.Keywords: Escherichia coli, plasmid, multidrug resistance, ESBL, pan drug resistance
Procedia PDF Downloads 691012 Selection of Suitable Reference Genes for Assessing Endurance Related Traits in a Native Pony Breed of Zanskar at High Altitude
Authors: Prince Vivek, Vijay K. Bharti, Manishi Mukesh, Ankita Sharma, Om Prakash Chaurasia, Bhuvnesh Kumar
Abstract:
High performance of endurance in equid requires adaptive changes involving physio-biochemical, and molecular responses in an attempt to regain homeostasis. We hypothesized that the identification of the suitable reference genes might be considered for assessing of endurance related traits in pony at high altitude and may ensure for individuals struggling to potent endurance trait in ponies at high altitude. A total of 12 mares of ponies, Zanskar breed, were divided into three groups, group-A (without load), group-B, (60 Kg) and group-C (80 Kg) on backpack loads were subjected to a load carry protocol, on a steep climb of 4 km uphill, and of gravel, uneven rocky surface track at an altitude of 3292 m to 3500 m (endpoint). Blood was collected before and immediately after the load carry on sodium heparin anticoagulant, and the peripheral blood mononuclear cell was separated for total RNA isolation and thereafter cDNA synthesis. Real time-PCR reactions were carried out to evaluate the mRNAs expression profile of a panel of putative internal control genes (ICGs), related to different functional classes, namely glyceraldehyde 3-phosphate dehydrogenase (GAPDH), β₂ microglobulin (β₂M), β-actin (ACTB), ribosomal protein 18 (RS18), hypoxanthine-guanine phosophoribosyltransferase (HPRT), ubiquitin B (UBB), ribosomal protein L32 (RPL32), transferrin receptor protein (TFRC), succinate dehydrogenase complex subunit A (SDHA) for normalizing the real-time quantitative polymerase chain reaction (qPCR) data of native pony’s. Three different algorithms, geNorm, NormFinder, and BestKeeper software, were used to evaluate the stability of reference genes. The result showed that GAPDH was best stable gene and stability value for the best combination of two genes was observed TFRC and β₂M. In conclusion, the geometric mean of GAPDH, TFRC and β₂M might be used for accurate normalization of transcriptional data for assessing endurance related traits in Zanskar ponies during load carrying.Keywords: endurance exercise, ubiquitin B (UBB), β₂ microglobulin (β₂M), high altitude, Zanskar ponies, reference gene
Procedia PDF Downloads 1311011 Transcriptome Analysis of Saffron (crocus sativus L.) Stigma Focusing on Identification Genes Involved in the Biosynthesis of Crocin
Authors: Parvaneh Mahmoudi, Ahmad Moeni, Seyed Mojtaba Khayam Nekoei, Mohsen Mardi, Mehrshad Zeinolabedini, Ghasem Hosseini Salekdeh
Abstract:
Saffron (Crocus sativus L.) is one of the most important spice and medicinal plants. The three-branch style of C. sativus flowers are the most important economic part of the plant and known as saffron, which has several medicinal properties. Despite the economic and biological significance of this plant, knowledge about its molecular characteristics is very limited. In the present study, we, for the first time, constructed a comprehensive dataset for C. sativus stigma through de novo transcriptome sequencing. We performed de novo transcriptome sequencing of C. sativus stigma using the Illumina paired-end sequencing technology. A total of 52075128 reads were generated and assembled into 118075 unigenes, with an average length of 629 bp and an N50 of 951 bp. A total of 66171unigenes were identified, among them, 66171 (56%) were annotated in the non-redundant National Center for Biotechnology Information (NCBI) database, 30938 (26%) were annotated in the Swiss-Prot database, 10273 (8.7%) unigenes were mapped to 141 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway database, while 52560 (44%) and 40756 (34%) unigenes were assigned to Gen Ontology (GO) categories and Eukaryotic Orthologous Groups of proteins (KOG), respectively. In addition, 65 candidate genes involved in three stages of crocin biosynthesis were identified. Finally, transcriptome sequencing of saffron stigma was used to identify 6779 potential microsatellites (SSRs) molecular markers. High-throughput de novo transcriptome sequencing provided a valuable resource of transcript sequences of C. sativus in public databases. In addition, most of candidate genes potentially involved in crocin biosynthesis were identified which could be further utilized in functional genomics studies. Furthermore, numerous obtained SSRs might contribute to address open questions about the origin of this amphiploid spices with probable little genetic diversity.Keywords: saffron, transcriptome, NGS, bioinformatic
Procedia PDF Downloads 1001010 Some Observations on the Analysis of Four Performances of the Allemande from J.S. Bach's Partita for Solo Flute (BWV 1013) in Terms of Zipf's Law
Authors: Douglas W. Scott
Abstract:
The Allemande from J. S. Bach's Partita for solo flute (BWV 1013) presents many unique challenges for any flautist, especially in terms of segmentation analysis required to select breathing places in the first half. Without claiming to identify a 'correct' solution to this problem, this paper analyzes the section in terms of a set of techniques based around a statistical property commonly (if not ubiquitously) found in music, namely Zipf’s law. Specifically, the paper considers violations of this expected profile at various levels of analysis, an approach which has yielded interesting insights in previous studies. The investigation is then grounded by considering four actual solutions to the problem found in recordings made by different flautists, which opens up the possibility of expanding Zipfian analysis to include a consideration of inter-onset-intervals (IOIs). It is found that significant deviations from the expected Zipfian distributions can reveal and highlight stylistic choices made by different performers.Keywords: inter-onset-interval, Partita for solo flute, BWV 1013, segmentation analysis, Zipf’s law
Procedia PDF Downloads 1831009 Gene Expression Analysis for Corals / Zooxanthellae under High Seawater Temperature Stress
Authors: Haruka Ito, Toru Maruyama, Michihiro Ito, Chuya Shinzato, Hiroyuki Fujimura, Yoshikatsu Nakano, Shoichiro Suda, Sachiyo Aburatani, Haruko Takeyama
Abstract:
Clarifying symbiotic relationships is one of the most important theme for understanding the marine eco-system. Coral reef has been regarded as an important environmental resource. Coral holobiont composed by coral, symbiotic microalgae zooxanthellae, and bacteria have complexed relationship. Zooxanthellae mainly supply organic matter to the host corals through their photosynthetic activity. The symbiotic relationship is indispensable for corals but may easily collapses due to the rise of seawater temperature. However, the molecular mechanism how seawater temperature influences their relationships still remain unclear. In this study, the transcriptomic analysis has applied to elucidate the coral-zooxanthellae relationships under high seawater temperature stress. To observe reactions of corals and zooxanthellae against the rise of seawater temperature, meta-gene expression in coral have been analyzed. The branches from six different colonies of a stony coral, Acropora tenuis, were sampled at nine times by 2016 at two locations, Ishikawabaru and South of Sesoko Island, Okinawa, Japan. The mRNAs extracted from the branches including zooxanthellae were sequenced by illumina HiSeq. Gene Set Enrichment Analysis (GSEA) based on hyper geometric distribution was performed. The seawater temperature at 2016 summer was unusually high, which was caused by El Niño event, and the number of zooxanthellae in coral was decreased in August. GSEA derived the several specific genes expressed in A. tenuis under heat stress conditions. The upregulated genes under heat stress highly related with infection immunity. The downregulated genes significantly contained cell cycle related genes. Thu, it is considered that heat stress cause disorder in cell metabolism of A. tenuis, resulting in serious influence to coral holobiont.Keywords: coral, symbiosis, thermal stress response, transcriptome analysis
Procedia PDF Downloads 2721008 Competition Between the Effects of Pesticides and Immune-activation on the Expression of Toll Pathway Genes
Authors: Dani Sukkar, Ali Kanso, Philippe Laval-Gilly, Jairo Falla-Angel
Abstract:
The honeybees' immune system is challenged by different risk factors that induce various responses. However, complex scenarios where bees are exposed to different pesticides simultaneously with immune activation are not well evaluated. The Toll pathway is one of the main signaling pathways studied in invertebrate immune responses, and it is a good indicator of the effect of such complex interactions in addition to key signaling elements of other pathways like Relish of the immune deficiency (IMD) pathway or Eater, the phagocytosis receptor or vitellogenin levels. Honeybee hemocytes extracted from 5th instar larvae were exposed to imidacloprid and/or amitraz with or without the presence of the zymosan a as an immune activator. The gene expression of multiple immune related genes were studied, including spaetzle, Toll, myD88, relish, eater and vitellogenin, by real-time polymerase chain reaction after RNA extraction. The results demonstrated that the Toll pathway is mainly affected by the pesticides; imidacloprid and amitraz, especially by their different combinations. Furthermore, immune activation by zymosan A, a fungal cell-wall component, acts to mitigate to some extent the effect of pesticides on the different levels of the Toll pathway. In addition, imidacloprid, amitraz, and zymosan A have complex and context-specific interactions depending on the levels of immune activation and the pathway evaluated affecting immune-gene expression differently.Keywords: toll pathway, immune modulation, β-glucan, imidacloprid, amitraz, honeybees, immune genes
Procedia PDF Downloads 871007 PARP1 Links Transcription of a Subset of RBL2-Dependent Genes with Cell Cycle Progression
Authors: Ewelina Wisnik, Zsolt Regdon, Kinga Chmielewska, Laszlo Virag, Agnieszka Robaszkiewicz
Abstract:
Apart from protecting genome, PARP1 has been documented to regulate many intracellular processes inter alia gene transcription by physically interacting with chromatin bound proteins and by their ADP-ribosylation. Our recent findings indicate that expression of PARP1 decreases during the differentiation of human CD34+ hematopoietic stem cells to monocytes as a consequence of differentiation-associated cell growth arrest and formation of E2F4-RBL2-HDAC1-SWI/SNF repressive complex at the promoter of this gene. Since the RBL2 complexes repress genes in a E2F-dependent manner and are widespread in the genome in G0 arrested cells, we asked (a) if RBL2 directly contributes to defining monocyte phenotype and function by targeting gene promoters and (b) if RBL2 controls gene transcription indirectly by repressing PARP1. For identification of genes controlled by RBL2 and/or PARP1,we used primer libraries for surface receptors and TLR signaling mediators, genes were silenced by siRNA or shRNA, analysis of gene promoter occupation by selected proteins was carried out by ChIP-qPCR, while statistical analysis in GraphPad Prism 5 and STATISTICA, ChIP-Seq data were analysed in Galaxy 2.5.0.0. On the list of 28 genes regulated by RBL2, we identified only four solely repressed by RBL2-E2F4-HDAC1-BRM complex. Surprisingly, 24 out of 28 emerged genes controlled by RBL2 were co-regulated by PARP1 in six different manners. In one mode of RBL2/PARP1 co-operation, represented by MAP2K6 and MAPK3, PARP1 was found to associate with gene promoters upon RBL2 silencing, which was previously shown to restore PARP1 expression in monocytes. PARP1 effect on gene transcription was observed only in the presence of active EP300, which acetylated gene promoters and activated transcription. Further analysis revealed that PARP1 binding to MA2K6 and MAPK3 promoters enabled recruitment of EP300 in monocytes, while in proliferating cancer cell lines, which actively transcribe PARP1, this protein maintained EP300 at the promoters of MA2K6 and MAPK3. Genome-wide analysis revealed a similar distribution of PARP1 and EP300 around transcription start sites and the co-occupancy of some gene promoters by PARP1 and EP300 in cancer cells. Here, we described a new RBL2/PARP1/EP300 axis which controls gene transcription regardless of the cell type. In this model cell, cycle-dependent transcription of PARP1 regulates expression of some genes repressed by RBL2 upon cell cycle limitation. Thus, RBL2 may indirectly regulate transcription of some genes by controlling the expression of EP300-recruiting PARP1. Acknowledgement: This work was financed by Polish National Science Centre grants nr DEC-2013/11/D/NZ2/00033 and DEC-2015/19/N/NZ2/01735. L.V. is funded by the National Research, Development and Innovation Office grants GINOP-2.3.2-15-2016-00020 TUMORDNS, GINOP-2.3.2-15-2016-00048-STAYALIVE and OTKA K112336. AR is supported by Polish Ministry of Science and Higher Education 776/STYP/11/2016.Keywords: retinoblastoma transcriptional co-repressor like 2 (RBL2), poly(ADP-ribose) polymerase 1 (PARP1), E1A binding protein p300 (EP300), monocytes
Procedia PDF Downloads 2091006 Object Oriented Classification Based on Feature Extraction Approach for Change Detection in Coastal Ecosystem across Kochi Region
Authors: Mohit Modi, Rajiv Kumar, Manojraj Saxena, G. Ravi Shankar
Abstract:
Change detection of coastal ecosystem plays a vital role in monitoring and managing natural resources along the coastal regions. The present study mainly focuses on the decadal change in Kochi islands connecting the urban flatland areas and the coastal regions where sand deposits have taken place. With this, in view, the change detection has been monitored in the Kochi area to apprehend the urban growth and industrialization leading to decrease in the wetland ecosystem. The region lies between 76°11'19.134"E to 76°25'42.193"E and 9°52'35.719"N to 10°5'51.575"N in the south-western coast of India. The IRS LISS-IV satellite image has been processed using a rule-based algorithm to classify the LULC and to interpret the changes between 2005 & 2015. The approach takes two steps, i.e. extracting features as a single GIS vector layer using different parametric values and to dissolve them. The multi-resolution segmentation has been carried out on the scale ranging from 10-30. The different classes like aquaculture, agricultural land, built-up, wetlands etc. were extracted using parameters like NDVI, mean layer values, the texture-based feature with corresponding threshold values using a rule set algorithm. The objects obtained in the segmentation process were visualized to be overlaying the satellite image at a scale of 15. This layer was further segmented using the spectral difference segmentation rule between the objects. These individual class layers were dissolved in the basic segmented layer of the image and were interpreted in vector-based GIS programme to achieve higher accuracy. The result shows a rapid increase in an industrial area of 40% based on industrial area statistics of 2005. There is a decrease in wetlands area which has been converted into built-up. New roads have been constructed which are connecting the islands to urban areas as well as highways. The increase in coastal region has been visualized due to sand depositions. The outcome is well supported by quantitative assessments which will empower rich understanding of land use land cover change for appropriate policy intervention and further monitoring.Keywords: land use land cover, multiresolution segmentation, NDVI, object based classification
Procedia PDF Downloads 1831005 Prevalence of Antibiotic Resistant Enterococci in Treated Wastewater Effluent in Durban, South Africa and Characterization of Vancomycin and High-Level Gentamicin-Resistant Strains
Authors: S. H. Gasa, L. Singh, B. Pillay, A. O. Olaniran
Abstract:
Wastewater treatment plants (WWTPs) have been implicated as the leading reservoir for antibiotic resistant bacteria (ARB), including Enterococci spp. and antibiotic resistance genes (ARGs), worldwide. Enterococci are a group of clinically significant bacteria that have gained much attention as a result of their antibiotic resistance. They play a significant role as the principal cause of nosocomial infections and dissemination of antimicrobial resistance genes in the environment. The main objective of this study was to ascertain the role of WWTPs in Durban, South Africa as potential reservoirs for antibiotic resistant Enterococci (ARE) and their related ARGs. Furthermore, the antibiogram and resistance gene profile of Enterococci species recovered from treated wastewater effluent and receiving surface water in Durban were also investigated. Using membrane filtration technique, Enterococcus selective agar and selected antibiotics, ARE were enumerated in samples (influent, activated sludge, before chlorination and final effluent) collected from two WWTPs, as well as from upstream and downstream of the receiving surface water. Two hundred Enterococcus isolates recovered from the treated effluent and receiving surface water were identified by biochemical and PCR-based methods, and their antibiotic resistance profiles determined by the Kirby-Bauer disc diffusion assay, while PCR-based assays were used to detect the presence of resistance and virulence genes. High prevalence of ARE was obtained at both WWTPs, with values reaching a maximum of 40%. The influent and activated sludge samples contained the greatest prevalence of ARE with lower values observed in the before and after chlorination samples. Of the 44 vancomycin and high-level gentamicin-resistant isolates, 11 were identified as E. faecium, 18 as E. faecalis, 4 as E. hirae while 11 are classified as “other” Enterococci species. High-level aminoglycoside resistance for gentamicin (39%) and vancomycin (61%) was recorded in species tested. The most commonly detected virulence gene was the gelE (44%), followed by asa1 (40%), while cylA and esp were detected in only 2% of the isolates. The most prevalent aminoglycoside resistance genes were aac(6')-Ie-aph(2''), aph(3')-IIIa, and ant(6')-Ia detected in 43%, 45% and 41% of the isolates, respectively. Positive correlation was observed between resistant phenotypes to high levels of aminoglycosides and presence of all aminoglycoside resistance genes. Resistance genes for glycopeptide: vanB (37%) and vanC-1 (25%), and macrolide: ermB (11%) and ermC (54%) were detected in the isolates. These results show the need for more efficient wastewater treatment and disposal in order to prevent the release of virulent and antibiotic resistant Enterococci species and safeguard public health.Keywords: antibiogram, enterococci, gentamicin, vancomycin, virulence signatures
Procedia PDF Downloads 2191004 Uncovering Anti-Hypertensive Obesity Targets and Mechanisms of Metformin, an Anti-Diabetic Medication
Authors: Lu Yang, Keng Po Lai
Abstract:
Metformin, a well-known clinical drug against diabetes, is found with potential anti-diabetic and anti-obese benefits, as reported in increasing evidences. However, the current clinical and experimental investigations are not to reveal the detailed mechanisms of metformin-anti-obesity/hypertension. We have used the bioinformatics strategy, including network pharmacology and molecular docking methodology, to uncover the key targets and pathways of bioactive compounds against clinical disorders, such as cancers, coronavirus disease. Thus, in this report, the in-silico approach was utilized to identify the hug targets, pharmacological function, and mechanism of metformin against obesity and hypertension. The networking analysis identified 154 differentially expressed genes of obesity and hypertension, 21 interaction genes, and 6 hug genes of metformin treating hypertensive obesity. As a result, the molecular docking findings indicated the potent binding capability of metformin with the key proteins, including interleukin 6 (IL-6) and chemokine (C-C motif) Ligand 2 (CCL2), in hypertensive obesity. The metformin-exerted anti-hypertensive obesity action involved in metabolic regulation, inflammatory reaction. And the anti-hypertensive obesity mechanisms of metformin were revealed, including regulation of inflammatory and immunological signaling pathways for metabolic homeostasis in tissue and microenvironmental melioration in blood pressure. In conclusion, our identified findings with bioinformatics analysis have demonstrated the detailed hug and pharmacological targets, biological functions, and signaling pathways of metformin treating hypertensive obesity.Keywords: metformin, obesity, hypertension, bioinformatics findings
Procedia PDF Downloads 1221003 The Impact of Artificial Intelligence on Agricultural Machines and Plant Nutrition
Authors: Kirolos Gerges Yakoub Gerges
Abstract:
Self-sustaining agricultural machines act in stochastic surroundings and therefore, should be capable of perceive the surroundings in real time. This notion can be done using image sensors blended with superior device learning, mainly Deep mastering. Deep convolutional neural networks excel in labeling and perceiving colour pix and since the fee of RGB-cameras is low, the hardware cost of accurate notion relies upon heavily on memory and computation power. This paper investigates the opportunity of designing lightweight convolutional neural networks for semantic segmentation (pixel clever class) with reduced hardware requirements, to allow for embedded usage in self-reliant agricultural machines. The usage of compression techniques, a lightweight convolutional neural community is designed to carry out actual-time semantic segmentation on an embedded platform. The community is skilled on two big datasets, ImageNet and Pascal Context, to apprehend as much as four hundred man or woman instructions. The 400 training are remapped into agricultural superclasses (e.g. human, animal, sky, road, area, shelterbelt and impediment) and the capacity to provide correct actual-time perception of agricultural environment is studied. The network is carried out to the case of self-sufficient grass mowing the usage of the NVIDIA Tegra X1 embedded platform. Feeding case-unique pics to the community consequences in a fully segmented map of the superclasses within the picture. As the network remains being designed and optimized, handiest a qualitative analysis of the technique is entire on the abstract submission deadline. intending this cut-off date, the finalized layout is quantitatively evaluated on 20 annotated grass mowing pictures. Light-weight convolutional neural networks for semantic segmentation can be implemented on an embedded platform and show aggressive performance on the subject of accuracy and speed. It’s miles viable to offer value-efficient perceptive capabilities related to semantic segmentation for autonomous agricultural machines.Keywords: centrifuge pump, hydraulic energy, agricultural applications, irrigationaxial flux machines, axial flux applications, coreless machines, PM machinesautonomous agricultural machines, deep learning, safety, visual perception
Procedia PDF Downloads 261002 Computational Investigation on Structural and Functional Impact of Oncogenes and Tumor Suppressor Genes on Cancer
Authors: Abdoulie K. Ceesay
Abstract:
Within the sequence of the whole genome, it is known that 99.9% of the human genome is similar, whilst our difference lies in just 0.1%. Among these minor dissimilarities, the most common type of genetic variations that occurs in a population is SNP, which arises due to nucleotide substitution in a protein sequence that leads to protein destabilization, alteration in dynamics, and other physio-chemical properties’ distortions. While causing variations, they are equally responsible for our difference in the way we respond to a treatment or a disease, including various cancer types. There are two types of SNPs; synonymous single nucleotide polymorphism (sSNP) and non-synonymous single nucleotide polymorphism (nsSNP). sSNP occur in the gene coding region without causing a change in the encoded amino acid, while nsSNP is deleterious due to its replacement of a nucleotide residue in the gene sequence that results in a change in the encoded amino acid. Predicting the effects of cancer related nsSNPs on protein stability, function, and dynamics is important due to the significance of phenotype-genotype association of cancer. In this thesis, Data of 5 oncogenes (ONGs) (AKT1, ALK, ERBB2, KRAS, BRAF) and 5 tumor suppressor genes (TSGs) (ESR1, CASP8, TET2, PALB2, PTEN) were retrieved from ClinVar. Five common in silico tools; Polyphen, Provean, Mutation Assessor, Suspect, and FATHMM, were used to predict and categorize nsSNPs as deleterious, benign, or neutral. To understand the impact of each variation on the phenotype, Maestro, PremPS, Cupsat, and mCSM-NA in silico structural prediction tools were used. This study comprises of in-depth analysis of 10 cancer gene variants downloaded from Clinvar. Various analysis of the genes was conducted to derive a meaningful conclusion from the data. Research done indicated that pathogenic variants are more common among ONGs. Our research also shows that pathogenic and destabilizing variants are more common among ONGs than TSGs. Moreover, our data indicated that ALK(409) and BRAF(86) has higher benign count among ONGs; whilst among TSGs, PALB2(1308) and PTEN(318) genes have higher benign counts. Looking at the individual cancer genes predisposition or frequencies of causing cancer according to our research data, KRAS(76%), BRAF(55%), and ERBB2(36%) among ONGs; and PTEN(29%) and ESR1(17%) among TSGs have higher tendencies of causing cancer. Obtained results can shed light to the future research in order to pave new frontiers in cancer therapies.Keywords: tumor suppressor genes (TSGs), oncogenes (ONGs), non synonymous single nucleotide polymorphism (nsSNP), single nucleotide polymorphism (SNP)
Procedia PDF Downloads 861001 The Genetic Architecture Underlying Dilated Cardiomyopathy in Singaporeans
Authors: Feng Ji Mervin Goh, Edmund Chee Jian Pua, Stuart Alexander Cook
Abstract:
Dilated cardiomyopathy (DCM) is a common cause of heart failure. Genetic mutations account for 50% of DCM cases with TTN mutations being the most common, accounting for up to 25% of DCM cases. However, the genetic architecture underlying Asian DCM patients is unknown. We evaluated 68 patients (female= 17) with DCM who underwent follow-up at the National Heart Centre, Singapore from 2013 through 2014. Clinical data were obtained and analyzed retrospectively. Genomic DNA was subjected to next-generation targeted sequencing. Nextera Rapid Capture Enrichment was used to capture the exons of a panel of 169 cardiac genes. DNA libraries were sequenced as paired-end 150-bp reads on Illumina MiSeq. Raw sequence reads were processed and analysed using standard bioinformatics techniques. The average age of onset of DCM was 46.1±10.21 years old. The average left ventricular ejection fraction (LVEF), left ventricular diastolic internal diameter (LVIDd), left ventricular systolic internal diameter (LVIDs) were 26.1±11.2%, 6.20±0.83cm, and 5.23±0.92cm respectively. The frequencies of mutations in major DCM-associated genes were as follows TTN (5.88% vs published frequency of 20%), LMNA (4.41% vs 6%), MYH7 (5.88% vs 4%), MYH6 (5.88% vs 4%), and SCN5a (4.41% vs 3%). The average callability at 10 times coverage of each major gene were: TTN (99.7%), LMNA (87.1%), MYH7 (94.8%), MYH6 (95.5%), and SCN5a (94.3%). In conclusion, TTN mutations are not common in Singaporean DCM patients. The frequencies of other major DCM-associated genes are comparable to frequencies published in the current literature.Keywords: heart failure, dilated cardiomyopathy, genetics, next-generation sequencing
Procedia PDF Downloads 2431000 Heterogeneity of Genes Encoding the Structural Proteins of Avian Infectious Bronchitis Virus
Authors: Shahid Hussain Abro, Siamak Zohari, Lena H. M. Renström, Désirée S. Jansson, Faruk Otman, Karin Ullman, Claudia Baule
Abstract:
Infectious bronchitis is an acute, highly contagious respiratory, nephropathogenic and reproductive disease of poultry that is caused by infectious bronchitis virus (IBV). The present study used a large data set of structural gene sequences, including newly generated ones and sequences available in the GenBank database to further analyze the diversity and to identify selective pressures and recombination spots. There were some deletions or insertions in the analyzed regions in isolates of the Italy-02 and D274 genotypes. Whereas, there were no insertions or deletions observed in the isolates of the Massachusetts and 4/91 genotype. The hypervariable nucleotide sequence regions spanned positions 152–239, 554–582, 686–737 and 802–912 in the S1 sub-unit of the all analyzed genotypes. The nucleotide sequence data of the E gene showed that this gene was comparatively unstable and subjected to a high frequency of mutations. The M gene showed substitutions consistently distributed except for a region between nucleotide positions 250–680 that remained conserved. The lowest variation in the nucleotide sequences of ORF5a was observed in the isolates of the D274 genotype. While, ORF5b and N gene sequences showed highly conserved regions and were less subjected to variation. Genes ORF3a, ORF3b, M, ORF5a, ORF5b and N presented negative selective pressure among the analyzed isolates. However, some regions of the ORFs showed favorable selective pressure(s). The S1 and E proteins were subjected to a high rate of mutational substitutions and non-synonymous amino acids. Strong signals of recombination breakpoints and ending break point were observed in the S and N genes. Overall, the results of this study revealed that very likely the strong selective pressures in E, M and the high frequency of substitutions in the S gene can probably be considered the main determinants in the evolution of IBV.Keywords: IBV, avian infectious bronchitis, structural genes, genotypes, genetic diversity
Procedia PDF Downloads 435999 Generative Adversarial Network for Bidirectional Mappings between Retinal Fundus Images and Vessel Segmented Images
Authors: Haoqi Gao, Koichi Ogawara
Abstract:
Retinal vascular segmentation of color fundus is the basis of ophthalmic computer-aided diagnosis and large-scale disease screening systems. Early screening of fundus diseases has great value for clinical medical diagnosis. The traditional methods depend on the experience of the doctor, which is time-consuming, labor-intensive, and inefficient. Furthermore, medical images are scarce and fraught with legal concerns regarding patient privacy. In this paper, we propose a new Generative Adversarial Network based on CycleGAN for retinal fundus images. This method can generate not only synthetic fundus images but also generate corresponding segmentation masks, which has certain application value and challenge in computer vision and computer graphics. In the results, we evaluate our proposed method from both quantitative and qualitative. For generated segmented images, our method achieves dice coefficient of 0.81 and PR of 0.89 on DRIVE dataset. For generated synthetic fundus images, we use ”Toy Experiment” to verify the state-of-the-art performance of our method.Keywords: retinal vascular segmentations, generative ad-versarial network, cyclegan, fundus images
Procedia PDF Downloads 144998 Optimizing the Capacity of a Convolutional Neural Network for Image Segmentation and Pattern Recognition
Authors: Yalong Jiang, Zheru Chi
Abstract:
In this paper, we study the factors which determine the capacity of a Convolutional Neural Network (CNN) model and propose the ways to evaluate and adjust the capacity of a CNN model for best matching to a specific pattern recognition task. Firstly, a scheme is proposed to adjust the number of independent functional units within a CNN model to make it be better fitted to a task. Secondly, the number of independent functional units in the capsule network is adjusted to fit it to the training dataset. Thirdly, a method based on Bayesian GAN is proposed to enrich the variances in the current dataset to increase its complexity. Experimental results on the PASCAL VOC 2010 Person Part dataset and the MNIST dataset show that, in both conventional CNN models and capsule networks, the number of independent functional units is an important factor that determines the capacity of a network model. By adjusting the number of functional units, the capacity of a model can better match the complexity of a dataset.Keywords: CNN, convolutional neural network, capsule network, capacity optimization, character recognition, data augmentation, semantic segmentation
Procedia PDF Downloads 153