Search results for: Ion S5 sequencing platform
2477 Genome Sequencing, Assembly and Annotation of Gelidium Pristoides from Kenton-on-Sea, South Africa
Authors: Sandisiwe Mangali, Graeme Bradley
Abstract:
Genome is complete set of the organism's hereditary information encoded as either deoxyribonucleic acid or ribonucleic acid in most viruses. The three different types of genomes are nuclear, mitochondrial and the plastid genome and their sequences which are uncovered by genome sequencing are known as an archive for all genetic information and enable researchers to understand the composition of a genome, regulation of gene expression and also provide information on how the whole genome works. These sequences enable researchers to explore the population structure, genetic variations, and recent demographic events in threatened species. Particularly, genome sequencing refers to a process of figuring out the exact arrangement of the basic nucleotide bases of a genome and the process through which all the afore-mentioned genomes are sequenced is referred to as whole or complete genome sequencing. Gelidium pristoides is South African endemic Rhodophyta species which has been harvested in the Eastern Cape since the 1950s for its high economic value which is one motivation for its sequencing. Its endemism further motivates its sequencing for conservation biology as endemic species are more vulnerable to anthropogenic activities endangering a species. As sequencing, mapping and annotating the Gelidium pristoides genome is the aim of this study. To accomplish this aim, the genomic DNA was extracted and quantified using the Nucleospin Plank Kit, Qubit 2.0 and Nanodrop. Thereafter, the Ion Plus Fragment Library was used for preparation of a 600bp library which was then sequenced through the Ion S5 sequencing platform for two runs. The produced reads were then quality-controlled and assembled through the SPAdes assembler with default parameters and the genome assembly was quality assessed through the QUAST software. From this assembly, the plastid and the mitochondrial genomes were then sampled out using Gelidiales organellar genomes as search queries and ordered according to them using the Geneious software. The Qubit and the Nanodrop instruments revealed an A260/A280 and A230/A260 values of 1.81 and 1.52 respectively. A total of 30792074 reads were obtained and produced a total of 94140 contigs with resulted into a sequence length of 217.06 Mbp with N50 value of 3072 bp and GC content of 41.72%. A total length of 179281bp and 25734 bp was obtained for plastid and mitochondrial respectively. Genomic data allows a clear understanding of the genomic constituent of an organism and is valuable as foundation information for studies of individual genes and resolving the evolutionary relationships between organisms including Rhodophytes and other seaweeds.Keywords: Gelidium pristoides, genome, genome sequencing and assembly, Ion S5 sequencing platform
Procedia PDF Downloads 1282476 BingleSeq: A User-Friendly R Package for Single-Cell RNA-Seq Data Analysis
Authors: Quan Gu, Daniel Dimitrov
Abstract:
BingleSeq was developed as a shiny-based, intuitive, and comprehensive application that enables the analysis of single-Cell RNA-Sequencing count data. This was achieved via incorporating three state-of-the-art software packages for each type of RNA sequencing analysis, alongside functional annotation analysis and a way to assess the overlap of differential expression method results. At its current state, the functionality implemented within BingleSeq is comparable to that of other applications, also developed with the purpose of lowering the entry requirements to RNA Sequencing analyses. BingleSeq is available on GitHub and will be submitted to R/Bioconductor.Keywords: bioinformatics, functional annotation analysis, single-cell RNA-sequencing, transcriptomics
Procedia PDF Downloads 1702475 Clinical Impact of Ultra-Deep Versus Sanger Sequencing Detection of Minority Mutations on the HIV-1 Drug Resistance Genotype Interpretations after Virological Failure
Authors: S. Mohamed, D. Gonzalez, C. Sayada, P. Halfon
Abstract:
Drug resistance mutations are routinely detected using standard Sanger sequencing, which does not detect minor variants with a frequency below 20%. The impact of detecting minor variants generated by ultra-deep sequencing (UDS) on HIV drug-resistance (DR) interpretations has not yet been studied. Fifty HIV-1 patients who experienced virological failure were included in this retrospective study. The HIV-1 UDS protocol allowed the detection and quantification of HIV-1 protease and reverse transcriptase variants related to genotypes A, B, C, E, F, and G. DeepChek®-HIV simplified DR interpretation software was used to compare Sanger sequencing and UDS. The total time required for the UDS protocol was found to be approximately three times longer than Sanger sequencing with equivalent reagent costs. UDS detected all of the mutations found by population sequencing and identified additional resistance variants in all patients. An analysis of DR revealed a total of 643 and 224 clinically relevant mutations by UDS and Sanger sequencing, respectively. Three resistance mutations with > 20% prevalence were detected solely by UDS: A98S (23%), E138A (21%) and V179I (25%). A significant difference in the DR interpretations for 19 antiretroviral drugs was observed between the UDS and Sanger sequencing methods. Y181C and T215Y were the most frequent mutations associated with interpretation differences. A combination of UDS and DeepChek® software for the interpretation of DR results would help clinicians provide suitable treatments. A cut-off of 1% allowed a better characterisation of the viral population by identifying additional resistance mutations and improving the DR interpretation.Keywords: HIV-1, ultra-deep sequencing, Sanger sequencing, drug resistance
Procedia PDF Downloads 3082474 Genome Sequencing of the Yeast Saccharomyces cerevisiae Strain 202-3
Authors: Yina A. Cifuentes Triana, Andrés M. Pinzón Velásco, Marío E. Velásquez Lozano
Abstract:
In this work the sequencing and genome characterization of a natural isolate of Saccharomyces cerevisiae yeast (strain 202-3), identified with potential for the production of second generation ethanol from sugarcane bagasse hydrolysates is presented. This strain was selected because its capability to consume xylose during the fermentation of sugarcane bagasse hydrolysates, taking into account that many strains of S. cerevisiae are incapable of processing this sugar. This advantage and other prominent positive aspects during fermentation profiles evaluated in bagasse hydrolysates made the strain 202-3 a candidate strain to improve the production of second-generation ethanol, which was proposed as a first step to study the strain at the genomic level. The molecular characterization was carried out by genome sequencing with the Illumina HiSeq 2000 platform paired end; the assembly was performed with different programs, finally choosing the assembler ABYSS with kmer 89. Gene prediction was developed with the approach of hidden Markov models with Augustus. The genes identified were scored based on similarity with public databases of nucleotide and protein. Records were organized from ontological functions at different hierarchical levels, which identified central metabolic functions and roles of the S. cerevisiae strain 202-3, highlighting the presence of four possible new proteins, two of them probably associated with the positive consumption of xylose.Keywords: cellulosic ethanol, Saccharomyces cerevisiae, genome sequencing, xylose consumption
Procedia PDF Downloads 2982473 Genomic Diversity and Relationship among Arabian Peninsula Dromedary Camels Using Full Genome Sequencing Approach
Authors: H. Bahbahani, H. Musa, F. Al Mathen
Abstract:
The dromedary camels (Camelus dromedarius) are single-humped even-toed ungulates populating the African Sahara, Arabian Peninsula, and Southwest Asia. The genome of this desert-adapted species has been minimally investigated using autosomal microsatellite and mitochondrial DNA markers. In this study, the genomes of 33 dromedary camel samples from different parts of the Arabian Peninsula were sequenced using Illumina Next Generation Sequencing (NGS) platform. These data were combined with Genotyping-by-Sequencing (GBS) data from African (Sudanese) dromedaries to investigate the genomic relationship between African and Arabian Peninsula dromedary camels. Principle Component Analysis (PCA) and average genome-wide admixture analysis were be conducted on these data to tackle the objectives of these studies. Both of the two analyses conducted revealed phylogeographic distinction between these two camel populations. However, no breed-wise genetic classification has been revealed among the African (Sudanese) camel breeds. The Arabian Peninsula camel populations also show higher heterozygosity than the Sudanese camels. The results of this study explain the evolutionary history and migration of African dromedary camels from their center of domestication in the southern Arabian Peninsula. These outputs help scientists to further understand the evolutionary history of dromedary camels, which might impact in conserving the favorable genetic of this species.Keywords: dromedary, genotyping-by-sequencing, Arabian Peninsula, Sudan
Procedia PDF Downloads 1722472 Genomics of Adaptation in the Sea
Authors: Agostinho Antunes
Abstract:
The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.Keywords: marine genomics, evolutionary bioinformatics, human genome sequencing, genomic analyses
Procedia PDF Downloads 5862471 Dynamic Analysis of Offshore 2-HUS/U Parallel Platform
Authors: Xie Kefeng, Zhang He
Abstract:
For the stability and control demand of offshore small floating platform, a 2-HUS/U parallel mechanism was presented as offshore platform. Inverse kinematics was obtained by institutional constraint equation, and the dynamic model of offshore 2-HUS/U parallel platform was derived based on rigid body’s Lagrangian method. The equivalent moment of inertia, damping and driving force/torque variation of offshore 2-HUS/U parallel platform were analyzed. A numerical example shows that, for parallel platform of given motion, system’s equivalent inertia changes 1.25 times maximally. During the movement of platform, they change dramatically with the system configuration and have coupling characteristics. The maximum equivalent drive torque is 800 N. At the same time, the curve of platform’s driving force/torque is smooth and has good sine features. The control system needs to be adjusted according to kinetic equation during stability and control and it provides a basis for the optimization of control system.Keywords: 2-HUS/U platform, dynamics, Lagrange, parallel platform
Procedia PDF Downloads 3212470 Cortex-M3 Based Virtual Platform Implementation for Software Development
Authors: Jun Young Moon, Hyeonggeon Lee, Jong Tae Kim
Abstract:
In this paper, we present Cortex-M3 based virtual platform which can virtualize wearable hardware platform and evaluate hardware performance. Cortex-M3 is very popular microcontroller in wearable devices, hardware sensors and display devices. This platform can be used to implement software layer for specific hardware architecture. By using the proposed platform the software development process can be parallelized with hardware development process. We present internal mechanism to implement the proposed virtual platform and describe how to use the proposed platform to develop software by using case study which is low cost wearable device that uses Cortex-M3.Keywords: electronic system level design, software development, virtual platform, wearable device
Procedia PDF Downloads 3512469 Harnessing Deep-Level Metagenomics to Explore the Three Dynamic One Health Areas: Healthcare, Domiciliary and Veterinary
Authors: Christina Killian, Katie Wall, Séamus Fanning, Guerrino Macori
Abstract:
Deep-level metagenomics offers a useful technical approach to explore the three dynamic One Health axes: healthcare, domiciliary and veterinary. There is currently limited understanding of the composition of complex biofilms, natural abundance of AMR genes and gene transfer occurrence in these ecological niches. By using a newly established small-scale complex biofilm model, COMBAT has the potential to provide new information on microbial diversity, antimicrobial resistance (AMR)-encoding gene abundance, and their transfer in complex biofilms of importance to these three One Health axes. Shotgun metagenomics has been used to sample the genomes of all microbes comprising the complex communities found in each biofilm source. A comparative analysis between untreated and biocide-treated biofilms is described. The basic steps include the purification of genomic DNA, followed by library preparation, sequencing, and finally, data analysis. The use of long-read sequencing facilitates the completion of metagenome-assembled genomes (MAG). Samples were sequenced using a PromethION platform, and following quality checks, binning methods, and bespoke bioinformatics pipelines, we describe the recovery of individual MAGs to identify mobile gene elements (MGE) and the corresponding AMR genotypes that map to these structures. High-throughput sequencing strategies have been deployed to characterize these communities. Accurately defining the profiles of these niches is an essential step towards elucidating the impact of the microbiota on each niche biofilm environment and their evolution.Keywords: COMBAT, biofilm, metagenomics, high-throughput sequencing
Procedia PDF Downloads 312468 Isolate-Specific Variations among Clinical Isolates of Brucella Identified by Whole-Genome Sequencing, Bioinformatics and Comparative Genomics
Authors: Abu S. Mustafa, Mohammad W. Khan, Faraz Shaheed Khan, Nazima Habibi
Abstract:
Brucellosis is a zoonotic disease of worldwide prevalence. There are at least four species and several strains of Brucella that cause human disease. Brucella genomes have very limited variation across strains, which hinder strain identification using classical molecular techniques, including PCR and 16 S rDNA sequencing. The aim of this study was to perform whole genome sequencing of clinical isolates of Brucella and perform bioinformatics and comparative genomics analyses to determine the existence of genetic differences across the isolates of a single Brucella species and strain. The draft sequence data were generated from 15 clinical isolates of Brucella melitensis (biovar 2 strain 63/9) using MiSeq next generation sequencing platform. The generated reads were used for further assembly and analysis. All the analysis was performed using Bioinformatics work station (8 core i7 processor, 8GB RAM with Bio-Linux operating system). FastQC was used to determine the quality of reads and low quality reads were trimmed or eliminated using Fastx_trimmer. Assembly was done by using Velvet and ABySS softwares. The ordering of assembled contigs was performed by Mauve. An online server RAST was employed to annotate the contigs assembly. Annotated genomes were compared using Mauve and ACT tools. The QC score for DNA sequence data, generated by MiSeq, was higher than 30 for 80% of reads with more than 100x coverage, which suggested that data could be utilized for further analysis. However when analyzed by FastQC, quality of four reads was not good enough for creating a complete genome draft so remaining 11 samples were used for further analysis. The comparative genome analyses showed that despite sharing same gene sets, single nucleotide polymorphisms and insertions/deletions existed across different genomes, which provided a variable extent of diversity to these bacteria. In conclusion, the next generation sequencing, bioinformatics, and comparative genome analysis can be utilized to find variations (point mutations, insertions and deletions) across different genomes of Brucella within a single strain. This information could be useful in surveillance and epidemiological studies supported by Kuwait University Research Sector grants MI04/15 and SRUL02/13.Keywords: brucella, bioinformatics, comparative genomics, whole genome sequencing
Procedia PDF Downloads 3502467 A Clustering-Sequencing Approach to the Facility Layout Problem
Authors: Saeideh Salimpour, Sophie-Charlotte Viaux, Ahmed Azab, Mohammed Fazle Baki
Abstract:
The Facility Layout Problem (FLP) is key to the efficient and cost-effective operation of a system. This paper presents a hybrid heuristic- and mathematical-programming-based approach that divides the problem conceptually into those of clustering and sequencing. First, clusters of vertically aligned facilities are formed, which are later on sequenced horizontally. The developed methodology provides promising results in comparison to its counterparts in the literature by minimizing the inter-distances for facilities which have more interactions amongst each other and aims at placing the facilities with more interactions at the centroid of the shop.Keywords: clustering-sequencing approach, mathematical modeling, optimization, unequal facility layout problem
Procedia PDF Downloads 3092466 Virtual Science Hub: An Open Source Platform to Enrich Science Teaching
Authors: Enrique Barra, Aldo Gordillo, Juan Quemada
Abstract:
This paper presents the Virtual Science Hub platform. It is an open source platform that combines a social network, an e-learning authoring tool, a video conference service and a learning object repository for science teaching enrichment. These four main functionalities fit very well together. The platform was released in April 2012 and since then it has not stopped growing. Finally we present the results of the surveys conducted and the statistics gathered to validate this approach.Keywords: e-learning, platform, authoring tool, science teaching, educational sciences
Procedia PDF Downloads 3662465 A Pipeline for Detecting Copy Number Variation from Whole Exome Sequencing Using Comprehensive Tools
Authors: Cheng-Yang Lee, Petrus Tang, Tzu-Hao Chang
Abstract:
Copy number variations (CNVs) have played an important role in many kinds of human diseases, such as Autism, Schizophrenia and a number of cancers. Many diseases are found in genome coding regions and whole exome sequencing (WES) is a cost-effective and powerful technology in detecting variants that are enriched in exons and have potential applications in clinical setting. Although several algorithms have been developed to detect CNVs using WES and compared with other algorithms for finding the most suitable methods using their own samples, there were not consistent datasets across most of algorithms to evaluate the ability of CNV detection. On the other hand, most of algorithms is using command line interface that may greatly limit the analysis capability of many laboratories. We create a series of simulated WES datasets from UCSC hg19 chromosome 22, and then evaluate the CNV detective ability of 19 algorithms from OMICtools database using our simulated WES datasets. We compute the sensitivity, specificity and accuracy in each algorithm for validation of the exome-derived CNVs. After comparison of 19 algorithms from OMICtools database, we construct a platform to install all of the algorithms in a virtual machine like VirtualBox which can be established conveniently in local computers, and then create a simple script that can be easily to use for detecting CNVs using algorithms selected by users. We also build a table to elaborate on many kinds of events, such as input requirement, CNV detective ability, for all of the algorithms that can provide users a specification to choose optimum algorithms.Keywords: whole exome sequencing, copy number variations, omictools, pipeline
Procedia PDF Downloads 2882464 Accurate HLA Typing at High-Digit Resolution from NGS Data
Authors: Yazhi Huang, Jing Yang, Dingge Ying, Yan Zhang, Vorasuk Shotelersuk, Nattiya Hirankarn, Pak Chung Sham, Yu Lung Lau, Wanling Yang
Abstract:
Human leukocyte antigen (HLA) typing from next generation sequencing (NGS) data has the potential for applications in clinical laboratories and population genetic studies. Here we introduce a novel technique for HLA typing from NGS data based on read-mapping using a comprehensive reference panel containing all known HLA alleles and de novo assembly of the gene-specific short reads. An accurate HLA typing at high-digit resolution was achieved when it was tested on publicly available NGS data, outperforming other newly-developed tools such as HLAminer and PHLAT.Keywords: human leukocyte antigens, next generation sequencing, whole exome sequencing, HLA typing
Procedia PDF Downloads 6332463 Working Mode and Key Technology of Thermal Vacuum Test Software for Spacecraft Test
Authors: Zhang Lei, Zhan Haiyang, Gu Miao
Abstract:
A universal software platform is developed for improving the defects in the practical one. This software platform has distinct advantages in modularization, information management, and the interfaces. Several technologies such as computer technology, virtualization technology, network technology, etc. are combined together in this software platform, and four working modes are introduced in this article including single mode, distributed mode, cloud mode, and the centralized mode. The application area of the software platform is extended through the switch between these working modes. The software platform can arrange the thermal vacuum test process automatically. This function can improve the reliability of thermal vacuum test.Keywords: software platform, thermal vacuum test, control and measurement, work mode
Procedia PDF Downloads 3822462 Massively Parallel Sequencing Improved Resolution for Paternity Testing
Authors: Xueying Zhao, Ke Ma, Hui Li, Yu Cao, Fan Yang, Qingwen Xu, Wenbin Liu
Abstract:
Massively parallel sequencing (MPS) technologies allow high-throughput sequencing analyses with a relatively affordable price and have gradually been applied to forensic casework. MPS technology identifies short tandem repeat (STR) loci based on sequence so that repeat motif variation within STRs can be detected, which may help one to infer the origin of the mutation in some cases. Here, we report on one case with one three-step mismatch (D18S51) in family trios based on both capillary electrophoresis (CE) and MPS typing. The alleles of the alleged father (AF) are [AGAA]₁₇AGAG[AGAA]₃ and [AGAA]₁₅. The mother’s alleles are [AGAA]₁₉ and [AGAA]₉AGGA[AGAA]₃. The questioned child’s (QC) alleles are [AGAA]₁₉ and [AGAA]₁₂. Given that the sequence variants in repeat regions of AF and mother are not observed in QC’s alleles, the QC’s allele [AGAA]₁₂ was likely inherited from the AF’s allele [AGAA]₁₅ by loss of three repeat [AGAA]. Besides, two new alleles of D18S51 in this study, [AGAA]₁₇AGAG[AGAA]₃ and [AGAA]₉AGGA[AGAA]₃, have not been reported before. All the results in this study were verified using Sanger-type sequencing. In summary, the MPS typing method can offer valuable information for forensic genetics research and play a promising role in paternity testing.Keywords: family trios analysis, forensic casework, ion torrent personal genome machine (PGM), massively parallel sequencing (MPS)
Procedia PDF Downloads 2782461 Anaerobic Digestion Batch Study of Taxonomic Variations in Microbial Communities during Adaptation of Consortium to Different Lignocellulosic Substrates Using Targeted Sequencing
Authors: Priyanka Dargode, Suhas Gore, Manju Sharma, Arvind Lali
Abstract:
Anaerobic digestion has been widely used for production of methane from different biowastes. However, the complexity of microbial communities involved in the process is poorly understood. The performance of biogas production process concerning the process productivity is closely coupled to its microbial community structure and syntrophic interactions amongst the community members. The present study aims at understanding taxonomic variations occurring in any starter inoculum when acclimatised to different lignocellulosic biomass (LBM) feedstocks relating to time of digestion. The work underlines use of high throughput Next Generation Sequencing (NGS) for validating the changes in taxonomic patterns of microbial communities. Biomethane Potential (BMP) batches were set up with different pretreated and non-pretreated LBM residues using the same microbial consortium and samples were withdrawn for studying the changes in microbial community in terms of its structure and predominance with respect to changes in metabolic profile of the process. DNA of samples withdrawn at different time intervals with reference to performance changes of the digestion process, was extracted followed by its 16S rRNA amplicon sequencing analysis using Illumina Platform. Biomethane potential and substrate consumption was monitored using Gas Chromatography(GC) and reduction in COD (Chemical Oxygen Demand) respectively. Taxonomic analysis by QIIME server data revealed that microbial community structure changes with different substrates as well as at different time intervals. It was observed that biomethane potential of each substrate was relatively similar but, the time required for substrate utilization and its conversion to biomethane was different for different substrates. This could be attributed to the nature of substrate and consequently the discrepancy between the dominance of microbial communities with regards to different substrate and at different phases of anaerobic digestion process. Knowledge of microbial communities involved would allow a rational substrate specific consortium design which will help to reduce consortium adaptation period and enhance the substrate utilisation resulting in improved efficacy of biogas process.Keywords: amplicon sequencing, biomethane potential, community predominance, taxonomic analysis
Procedia PDF Downloads 5032460 Evolutionary Genomic Analysis of Adaptation Genomics
Authors: Agostinho Antunes
Abstract:
The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of varied species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.Keywords: adaptation, animals, evolution, genomics
Procedia PDF Downloads 4012459 Removal of Nitrogen Compounds from Industrial Wastewater Using Sequencing Batch Reactor: The Effects of React Time
Authors: Ali W. Alattabi, Khalid S. Hashim, Hassnen M. Jafer, Ali Alzeyadi
Abstract:
This study was performed to optimise the react time (RT) and study its effects on the removal rates of nitrogen compounds in a sequencing batch reactor (SBR) treating synthetic industrial wastewater. The results showed that increasing the RT from 4 h to 10, 16 and 22 h significantly improved the nitrogen compounds’ removal efficiency, it was increased from 69.5% to 95%, 75.7 to 97% and from 54.2 to 80.1% for NH3-N, NO3-N and NO2-N respectively. The results obtained from this study showed that the RT of 22 h was the optimum for nitrogen compounds removal efficiency.Keywords: ammonia-nitrogen, retention time, nitrate, nitrite, sequencing batch reactor, sludge characteristics
Procedia PDF Downloads 3392458 Automatic Reporting System for Transcriptome Indel Identification and Annotation Based on Snapshot of Next-Generation Sequencing Reads Alignment
Authors: Shuo Mu, Guangzhi Jiang, Jinsa Chen
Abstract:
The analysis of Indel for RNA sequencing of clinical samples is easily affected by sequencing experiment errors and software selection. In order to improve the efficiency and accuracy of analysis, we developed an automatic reporting system for Indel recognition and annotation based on image snapshot of transcriptome reads alignment. This system includes sequence local-assembly and realignment, target point snapshot, and image-based recognition processes. We integrated high-confidence Indel dataset from several known databases as a training set to improve the accuracy of image processing and added a bioinformatical processing module to annotate and filter Indel artifacts. Subsequently, the system will automatically generate data, including data quality levels and images results report. Sanger sequencing verification of the reference Indel mutation of cell line NA12878 showed that the process can achieve 83% sensitivity and 96% specificity. Analysis of the collected clinical samples showed that the interpretation accuracy of the process was equivalent to that of manual inspection, and the processing efficiency showed a significant improvement. This work shows the feasibility of accurate Indel analysis of clinical next-generation sequencing (NGS) transcriptome. This result may be useful for RNA study for clinical samples with microsatellite instability in immunotherapy in the future.Keywords: automatic reporting, indel, next-generation sequencing, NGS, transcriptome
Procedia PDF Downloads 1562457 Language Shapes Thought: An Experimental Study on English and Mandarin Native Speakers' Sequencing of Size
Authors: Hsi Wei
Abstract:
Does the language we speak affect the way we think? This question has been discussed for a long time from different aspects. In this article, the issue is examined with an experiment on how speakers of different languages tend to do different sequencing when it comes to the size of general objects. An essential difference between the usage of English and Mandarin is the way we sequence the size of places or objects. In English, when describing the location of something we may say, for example, ‘The pen is inside the trashcan next to the tree at the park.’ In Mandarin, however, we would say, ‘The pen is at the park next to the tree inside the trashcan.’ It’s clear that generally English use the sequence of small to big while Mandarin the opposite. Therefore, the experiment was conducted to test if the difference of the languages affects the speakers’ ability to do the different sequencing. There were two groups of subjects; one consisted of English native speakers, another of Mandarin native speakers. Within the experiment, three nouns were showed as a group to the subjects as their native languages. Before they saw the nouns, they would first get an instruction of ‘big to small’, ‘small to big’, or ‘repeat’. Therefore, the subjects had to sequence the following group of nouns as the instruction they get or simply repeat the nouns. After completing every sequencing and repetition in their minds, they pushed a button as reaction. The repetition design was to gather the mere reading time of the person. As the result of the experiment showed, English native speakers reacted more quickly to the sequencing of ‘small to big’; on the other hand, Mandarin native speakers reacted more quickly to the sequence ‘big to small’. To conclude, this study may be of importance as a support for linguistic relativism that the language we speak do shape the way we think.Keywords: language, linguistic relativism, size, sequencing
Procedia PDF Downloads 2552456 Individual Actuators of a Car-Like Robot with Back Trailer
Authors: Tarek El-Derini, Ahmed El-Shenawy
Abstract:
This paper presents the hardware implemented and validation for a special system to assist the unprofessional users of car with back trailers. The system consists of two platforms; the front car platform (C) and the trailer platform (T). The main objective is to control the Trailer platform using the actuators found in the front platform (c). The mobility of the platform (C) is investigated and inverse and forward kinematics model is obtained for both platforms (C) and (T). The system is simulated using Matlab M-file and the simulation examples results illustrated the system performance. The system is constructed with a hardware setup for the front and trailer platform. The hardware experimental results and the simulated examples outputs showed the validation of the hardware setup.Keywords: kinematics, modeling, robot, MATLAB
Procedia PDF Downloads 4162455 Flexible Communication Platform for Crisis Management
Authors: Jiří Barta, Tomáš Ludík, Jiří Urbánek
Abstract:
The topics of disaster and emergency management are highly debated among experts. Fast communication will help to deal with emergencies. Problem is with the network connection and data exchange. The paper suggests a solution, which allows possibilities and perspectives of new flexible communication platform to the protection of communication systems for crisis management. This platform is used for everyday communication and communication in crisis situations too.Keywords: crisis management, information systems, interoperability, crisis communication, security environment, communication platform
Procedia PDF Downloads 4442454 Genomics of Aquatic Adaptation
Authors: Agostinho Antunes
Abstract:
The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.Keywords: comparative genomics, adaptive evolution, bioinformatics, phylogenetics, genome mining
Procedia PDF Downloads 5072453 Design and Implementation a Virtualization Platform for Providing Smart Tourism Services
Authors: Nam Don Kim, Jungho Moon, Tae Yun Chung
Abstract:
This paper proposes an Internet of Things (IoT) based virtualization platform for providing smart tourism services. The virtualization platform provides a consistent access interface to various types of data by naming IoT devices and legacy information systems as pathnames in a virtual file system. In the other words, the IoT virtualization platform functions as a middleware which uses the metadata for underlying collected data. The proposed platform makes it easy to provide customized tourism information by using tourist locations collected by IoT devices and additionally enables to create new interactive smart tourism services focused on the tourist locations. The proposed platform is very efficient so that the provided tourism services are isolated from changes in raw data and the services can be modified or expanded without changing the underlying data structure.Keywords: internet of things (IoT), IoT platform, serviceplatform, virtual file system (VSF)
Procedia PDF Downloads 4692452 The Role and Importance of Genome Sequencing in Prediction of Cancer Risk
Authors: M. Sadeghi, H. Pezeshk, R. Tusserkani, A. Sharifi Zarchi, A. Malekpour, M. Foroughmand, S. Goliaei, M. Totonchi, N. Ansari–Pour
Abstract:
The role and relative importance of intrinsic and extrinsic factors in the development of complex diseases such as cancer still remains a controversial issue. Determining the amount of variation explained by these factors needs experimental data and statistical models. These models are nevertheless based on the occurrence and accumulation of random mutational events during stem cell division, thus rendering cancer development a stochastic outcome. We demonstrate that not only individual genome sequencing is uninformative in determining cancer risk, but also assigning a unique genome sequence to any given individual (healthy or affected) is not meaningful. Current whole-genome sequencing approaches are therefore unlikely to realize the promise of personalized medicine. In conclusion, since genome sequence differs from cell to cell and changes over time, it seems that determining the risk factor of complex diseases based on genome sequence is somewhat unrealistic, and therefore, the resulting data are likely to be inherently uninformative.Keywords: cancer risk, extrinsic factors, genome sequencing, intrinsic factors
Procedia PDF Downloads 2452451 A Study on the Treatment of Municipal Waste Water Using Sequencing Batch Reactor
Authors: Bhaven N. Tandel, Athira Rajeev
Abstract:
Sequencing batch reactor process is a suspended growth process operating under non-steady state conditions which utilizes a fill and draw reactor with complete mixing during the batch reaction step (after filling) and where the subsequent steps of aeration and clarification occur in the same tank. All sequencing batch reactor systems have five steps in common, which are carried out in sequence as follows, (1) fill (2) react (3) settle (sedimentation/clarification) (4) draw (decant) and (5) idle. The study was carried out in a sequencing batch reactor of dimensions 44cmx30cmx70cm with a working volume of 40 L. Mechanical stirrer of 100 rpm was used to provide continuous mixing in the react period and oxygen was supplied by fish tank aerators. The duration of a complete cycle of sequencing batch reactor was 8 hours. The cycle period was divided into different phases in sequence as follows-0.25 hours fill phase, 6 hours react period, 1 hour settling phase, 0.5 hours decant period and 0.25 hours idle phase. The study consisted of two runs, run 1 and run 2. Run 1 consisted of 6 hours aerobic react period and run 2 consisted of 3 hours aerobic react period followed by 3 hours anoxic react period. The influent wastewater used for the study had COD, BOD, NH3-N and TKN concentrations of 308.03±48.94 mg/L, 100.36±22.05 mg/L, 14.12±1.18 mg/L, and 24.72±2.21 mg/L respectively. Run 1 had an average COD removal efficiency of 41.28%, BOD removal efficiency of 56.25%, NH3-N removal efficiency of 86.19% and TKN removal efficiency of 54.4%. Run 2 had an average COD removal efficiency of 63.19%, BOD removal efficiency of 73.85%, NH3-N removal efficiency of 90.74% and TKN removal efficiency of 65.25%. It was observed that run 2 gave better performance than run 1 in the removal of COD, BOD and TKN.Keywords: municipal waste water, aerobic, anoxic, sequencing batch reactor
Procedia PDF Downloads 5182450 Systematic Process for Constructing an Augmented Reality Display Platform
Authors: Cheng Chieh Hsu, Alfred Chen, Yu-Pin Ma, Meng-Jie Lin, Fu Pai Chiu, Yi-Yan Sie
Abstract:
In this study, it is attempted to construct an augmented reality display platform (ARDP), and its objectives are two facets, i.e. 1) providing a creative display mode for museums/historical heritages and 2) providing a benchmark for human-computer interaction professionals to build an augmented reality display platform. A general augmented reality theory has been explored in the very beginning and afterwards a systematic process model is proposed. There are three major core tasks to be done for the platform, i.e. 1) constructing the physical interactive table, 2) designing the media, and 3) designing the media carrier. In order to describe how the platform manipulates, the authors have introduced Tainan Confucius Temple, a cultural heritage in Taiwan, as a case study. As a result, a systematic process with thirteen steps has been developed and it aims at providing a rational method for constructing the platform.Keywords: human-computer interaction, media, media carrier, augmented reality display platform
Procedia PDF Downloads 3822449 An Interactive Platform Displaying Mixed Reality Media
Authors: Alfred Chen, Cheng Chieh Hsu, Yu-Pin Ma, Meng-Jie Lin, Fu Pai Chiu, Yi-Yan Sie
Abstract:
This study is attempted to construct a human-computer interactive platform system that has mainly consisted of an augmented hardware system, a software system, a display table, and mixed media. This system has provided with human-computer interaction services through an interactive platform for the tourism industry. A well designed interactive platform, integrating of augmented reality and mixed media, has potential to enhance museum display quality and diversity. Besides, it will create a comprehensive and creative display mode for most museums and historical heritages. Therefore, it is essential to let public understand what the platform is, how it functions, and most importantly how one builds an interactive augmented platform. Hence the authors try to elaborate the construction process of the platform in detail. Thus, there are three issues to be considered, i.e.1) the theory and application of augmented reality, 2) the hardware and software applied, and 3) the mixed media presented. In order to describe how the platform works, Courtesy Door of Tainan Confucius Temple has been selected as case study in this study. As a result, a developed interactive platform has been presented by showing the physical entity object, along with virtual mixing media such as text, images, animation, and video. This platform will result in providing diversified and effective information that will be delivered to the users.Keywords: human-computer interaction, mixed reality, mixed media, tourism
Procedia PDF Downloads 4572448 Characterizing and Developing the Clinical Grade Microbiome Assay with a Robust Bioinformatics Pipeline for Supporting Precision Medicine Driven Clinical Development
Authors: Danyi Wang, Andrew Schriefer, Dennis O'Rourke, Brajendra Kumar, Yang Liu, Fei Zhong, Juergen Scheuenpflug, Zheng Feng
Abstract:
Purpose: It has been recognized that the microbiome plays critical roles in disease pathogenesis, including cancer, autoimmune disease, and multiple sclerosis. To develop a clinical-grade assay for exploring microbiome-derived clinical biomarkers across disease areas, a two-phase approach is implemented. 1) Identification of the optimal sample preparation reagents using pre-mixed bacteria and healthy donor stool samples coupled with proprietary Sigma-Aldrich® bioinformatics solution. 2) Exploratory analysis of patient samples for enabling precision medicine. Study Procedure: In phase 1 study, we first compared the 16S sequencing results of two ATCC® microbiome standards (MSA 2002 and MSA 2003) across five different extraction kits (Kit A, B, C, D & E). Both microbiome standards samples were extracted in triplicate across all extraction kits. Following isolation, DNA quantity was determined by Qubit assay. DNA quality was assessed to determine purity and to confirm extracted DNA is of high molecular weight. Bacterial 16S ribosomal ribonucleic acid (rRNA) amplicons were generated via amplification of the V3/V4 hypervariable region of the 16S rRNA. Sequencing was performed using a 2x300 bp paired-end configuration on the Illumina MiSeq. Fastq files were analyzed using the Sigma-Aldrich® Microbiome Platform. The Microbiome Platform is a cloud-based service that offers best-in-class 16S-seq and WGS analysis pipelines and databases. The Platform and its methods have been extensively benchmarked using microbiome standards generated internally by MilliporeSigma and other external providers. Data Summary: The DNA yield using the extraction kit D and E is below the limit of detection (100 pg/µl) of Qubit assay as both extraction kits are intended for samples with low bacterial counts. The pre-mixed bacterial pellets at high concentrations with an input of 2 x106 cells for MSA-2002 and 1 x106 cells from MSA-2003 were not compatible with the kits. Among the remaining 3 extraction kits, kit A produced the greatest yield whereas kit B provided the least yield (Kit-A/MSA-2002: 174.25 ± 34.98; Kit-A/MSA-2003: 179.89 ± 30.18; Kit-B/MSA-2002: 27.86 ± 9.35; Kit-B/MSA-2003: 23.14 ± 6.39; Kit-C/MSA-2002: 55.19 ± 10.18; Kit-C/MSA-2003: 35.80 ± 11.41 (Mean ± SD)). Also, kit A produced the greatest yield, whereas kit B provided the least yield. The PCoA 3D visualization of the Weighted Unifrac beta diversity shows that kits A and C cluster closely together while kit B appears as an outlier. The kit A sequencing samples cluster more closely together than both the other kits. The taxonomic profiles of kit B have lower recall when compared to the known mixture profiles indicating that kit B was inefficient at detecting some of the bacteria. Conclusion: Our data demonstrated that the DNA extraction method impacts DNA concentration, purity, and microbial communities detected by next-generation sequencing analysis. Further microbiome analysis performance comparison of using healthy stool samples is underway; also, colorectal cancer patients' samples will be acquired for further explore the clinical utilities. Collectively, our comprehensive qualification approach, including the evaluation of optimal DNA extraction conditions, the inclusion of positive controls, and the implementation of a robust qualified bioinformatics pipeline, assures accurate characterization of the microbiota in a complex matrix for deciphering the deep biology and enabling precision medicine.Keywords: 16S rRNA sequencing, analytical validation, bioinformatics pipeline, metagenomics
Procedia PDF Downloads 133