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1

LAMONTANARA, ANTONELLA. "Sviluppo ed applicazione di pipilines bioinformatiche per l'analisi di dati NGS." Doctoral thesis, Università Cattolica del Sacro Cuore, 2015. http://hdl.handle.net/10280/6068.

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Lo sviluppo delle tecnologie di sequenziamento ha portato alla nascita di strumenti in grado di produrre gigabasi di dati di sequenziamento in una singola corsa. Queste tecnologie, comunemente indicate come Next Generation Sequencing o NGS, producono grandi e complessi dataset la cui analisi comporta diversi problemi a livello bioinformatico. L'analisi di questo tipo di dati richiede la messa a punto di pipelines computazionali il cui sviluppo richiede un lavoro di scripting necessario per concatenare i softwares già esistenti. Questa tesi tratta l'aspetto metodologico dell'analisi di dati NGS
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2

LAMONTANARA, ANTONELLA. "Sviluppo ed applicazione di pipilines bioinformatiche per l'analisi di dati NGS." Doctoral thesis, Università Cattolica del Sacro Cuore, 2015. http://hdl.handle.net/10280/6068.

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Lo sviluppo delle tecnologie di sequenziamento ha portato alla nascita di strumenti in grado di produrre gigabasi di dati di sequenziamento in una singola corsa. Queste tecnologie, comunemente indicate come Next Generation Sequencing o NGS, producono grandi e complessi dataset la cui analisi comporta diversi problemi a livello bioinformatico. L'analisi di questo tipo di dati richiede la messa a punto di pipelines computazionali il cui sviluppo richiede un lavoro di scripting necessario per concatenare i softwares già esistenti. Questa tesi tratta l'aspetto metodologico dell'analisi di dati NGS
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3

Giannini, Simone. "Strumenti statistici per elaborazione dati su sequenziamenti di genoma umano." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amslaurea.unibo.it/12059/.

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L'analisi del DNA è una delle chiavi per la comprensione della vita e dei suoi funzionamenti. Le tecniche di sequenziamento di nuova generazione NGS permettono una analisi parallela di molte sequenze che hanno reso possibili i sequenziamenti di genomi interi e l'impiego di questi dati in una vasta gamma di studi. In questa tesi verranno descritte le principali tecniche di sequenziamento NGS. Per quanto riguarda il genoma umano si tratteranno alcune tematiche di studio di varianti affrontate dal gruppo 1000Genomes. Nella fase conclusiva si introdurranno definizioni di statistica utili nell'affr
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4

DENTI, LUCA. "Algorithms for analyzing genetic variability from Next-Generation Sequencing data." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2020. http://hdl.handle.net/10281/263551.

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Il DNA contiene l'informazione genetica che è essenziale per il corretto sviluppo di qualsiasi organismo. Essere in grado di analizzare il DNA risulta indispensabile per comprendere le cause di malattie e tumori e per migliorare la qualità delle nostre vite. Lo sviluppo delle tecniche di sequenziamento del DNA ha rivoluzionato il modo in cui queste analisi sono eseguite. A causa dell'immensa quantità di dati biologici disponibili, oggigiorno l'informatica gioca un ruolo fondamentale nella loro analisi. Fortunatamente in molte applicazioni l'informazione biologica contenuta in una molecola di D
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5

Bombonato, Juliana Rodrigues. "Dados filogenômicos para inferência de relações evolutivas entre espécies do gênero Cereus Mill. (Cactaceae, Cereeae)." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/59/59139/tde-08062018-160032/.

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Estudos filogenômicos usando Sequenciamento de Próxima Geração (do inglês, Next Generation Sequencing - NGS) estão se tornando cada vez mais comuns. O uso de marcadores oriundos do sequenciamento de DNA de uma biblioteca genômica reduzida, neste caso ddRADSeq (do inglês, Double Digestion Restriction Site Associated DNA Sequencing), para este fim é promissor, pelo menos considerando sua relação custo-benefício em grandes conjuntos de dados de grupos não-modelo, bem como a representação genômica recuperada. Aqui usamos ddRADSeq para inferir a filogenia em nível de espécie do gênero Cereus (Cacta
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6

Alic, Andrei Stefan. "Improved Error Correction of NGS Data." Doctoral thesis, Universitat Politècnica de València, 2016. http://hdl.handle.net/10251/67630.

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[EN] The work done for this doctorate thesis focuses on error correction of Next Generation Sequencing (NGS) data in the context of High Performance Computing (HPC). Due to the reduction in sequencing cost, the increasing output of the sequencers and the advancements in the biological and medical sciences, the amount of NGS data has increased tremendously. Humans alone are not able to keep pace with this explosion of information, therefore computers must assist them to ease the handle of the deluge of information generated by the sequencing machines. Since NGS is no longer just a research t
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7

Spáčil, Michael. "Zálohování dat a datová úložiště." Master's thesis, Vysoké učení technické v Brně. Fakulta podnikatelská, 2021. http://www.nusl.cz/ntk/nusl-444686.

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The diploma thesis is focused on the design of a backup system to increase the efficiency of working with stored data and increase the security of stored data. The analysis of the current state describes the company itself and also the backup system using the audit portal Zefis.cz. The following part describes the design of a new backup system that focuses on complexity using the cloud, magnetic tapes, and high server availability.
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8

Hriadeľ, Ondřej. "Návrh a implementace plánu zálohování dat společnosti." Master's thesis, Vysoké učení technické v Brně. Fakulta podnikatelská, 2019. http://www.nusl.cz/ntk/nusl-399540.

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This diploma thesis is focused on the development of a new backup plan and its implementation. In introductory part of the thesis I explore the theorethical backround of data backup and data management. Next part is dedicated to analysis of current state and investor requierements. Last part is aimed to implementation of new backup plan with focusing on economic and quality point of view. Besides concept and realization of backup plan the concept of the backup directive is created .
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9

Chen, Dao-Peng. "Statistical power for RNA-seq data to detect two epigenetic phenomena." The Ohio State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=osu1357248975.

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10

Janíček, Libor. "Zálohování dat a datová úložiště." Master's thesis, Vysoké učení technické v Brně. Fakulta podnikatelská, 2020. http://www.nusl.cz/ntk/nusl-417707.

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The master´s thesis focuses on problematics associated with data backup and storages. It deals with the realistic data backup issue at a real municipal office. Part of the work is a thorough analysis of the current state and suggestions for improvement.
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11

SAGGESE, IGOR. "NGS data analysis approaches for clinical applications." Doctoral thesis, Università del Piemonte Orientale, 2017. http://hdl.handle.net/11579/86924.

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12

Otto, Raik. "Distance-based methods for the analysis of Next-Generation sequencing data." Doctoral thesis, Humboldt-Universität zu Berlin, 2021. http://dx.doi.org/10.18452/23267.

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Die Analyse von NGS Daten ist ein zentraler Aspekt der modernen genomischen Forschung. Bei der Extraktion von Daten aus den beiden am häufigsten verwendeten Quellorganismen bestehen jedoch vielfältige Problemstellungen. Im ersten Kapitel wird ein neuartiger Ansatz vorgestellt welcher einen Abstand zwischen Krebszellinienkulturen auf Grundlage ihrer kleinen genomischen Varianten bestimmt um die Kulturen zu identifizieren. Eine Voll-Exom sequenzierte Kultur wird durch paarweise Vergleiche zu Referenzdatensätzen identifiziert so ein gemessener Abstand geringer ist als dies bei nicht verwandte
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13

Qiao, Dandi. "Statistical Approaches for Next-Generation Sequencing Data." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10689.

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During the last two decades, genotyping technology has advanced rapidly, which enabled the tremendous success of genome-wide association studies (GWAS) in the search of disease susceptibility loci (DSLs). However, only a small fraction of the overall predicted heritability can be explained by the DSLs discovered. One possible explanation for this ”missing heritability” phenomenon is that many causal variants are rare. The recent development of high-throughput next-generation sequencing (NGS) technology provides the instrument to look closely at these rare variants with precision and efficiency
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14

Prieto, Barja Pablo 1986. "NGS applications in genome evolution and adaptation : A reproducible approach to NGS data analysis and integration." Doctoral thesis, Universitat Pompeu Fabra, 2017. http://hdl.handle.net/10803/565601.

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In this PhD I have used NGS technologies in different organisms and scenarios such as in ENCODE, comparing the conservation and evolution of long non-coding RNA sequences between human and mouse, using experimental evidences from genome, transcriptome and chromatin. A similar approach was followed in other organisms such as the mesoamerican common bean and in chicken. Other analysis carried with NGS data involved the well known parasite, Leishmania Donovani, the causative agent of Leishmaniasis. I used NGS data obtained from genome and transcriptome to study the fate of its genome in survival
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15

Ranciati, Saverio <1988&gt. "Statistical modelling of spatio-temporal dependencies in NGS data." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7680/1/thesis_ranciati_saverio.pdf.

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Next-generation sequencing (NGS) has rapidly become the current standard in genetic related analysis. This switch from microarray to NGS required new statistical strategies to address the research questions inherent to the considered phenomena. First and foremost, NGS dataset usually consist of discrete observations characterized by overdispersion - that is, discrepancy between expected and observed variability - and an abundance of zeros, measured across a huge number of regions of the genome. With respect to chromatin immunoprecipitation sequencing (ChIP-Seq), a class of NGS data, it is of p
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16

Ranciati, Saverio <1988&gt. "Statistical modelling of spatio-temporal dependencies in NGS data." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7680/.

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Next-generation sequencing (NGS) has rapidly become the current standard in genetic related analysis. This switch from microarray to NGS required new statistical strategies to address the research questions inherent to the considered phenomena. First and foremost, NGS dataset usually consist of discrete observations characterized by overdispersion - that is, discrepancy between expected and observed variability - and an abundance of zeros, measured across a huge number of regions of the genome. With respect to chromatin immunoprecipitation sequencing (ChIP-Seq), a class of NGS data, it is of p
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17

Leonardelli, Lorena. "Grapevine acidity: SVM tool development and NGS data analyses." Doctoral thesis, Università degli studi di Trento, 2014. https://hdl.handle.net/11572/368613.

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Single Nucleotide Polymorphisms (SNPs) represent the most abundant type of genetic variation and they are a valuable tool for several biological applications like linkage mapping, integration of genetic and physical maps, population genetics as well as evolutionary and protein structure-function studies. SNP genotyping by mapping DNA reads produced via Next generation sequencing (NGS) technologies on a reference genome is a very common and convenient approach in our days, but still prone to a significant error rate. The need of defining in silico true genetic variants in genomic and transcript
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18

Leonardelli, Lorena. "Grapevine acidity: SVM tool development and NGS data analyses." Doctoral thesis, country:IT, 2014. http://hdl.handle.net/10449/24467.

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Single Nucleotide Polymorphisms (SNPs) represent the most abundant type of genetic variation and they are a valuable tool for several biological applications like linkage mapping, integration of genetic and physical maps, population genetics as well as evolutionary and protein structure-function studies. SNP genotyping by mapping DNA reads produced via Next generation sequencing (NGS) technologies on a reference genome is a very common and convenient approach in our days, but still prone to a significant error rate. The need of defining in silico true genetic variants in genomic and transcript
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19

Leonardelli, Lorena. "Grapevine acidity: SVM tool development and NGS data analyses." Doctoral thesis, University of Trento, 2014. http://eprints-phd.biblio.unitn.it/1350/1/PhD-Thesis.pdf.

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Single Nucleotide Polymorphisms (SNPs) represent the most abundant type of genetic variation and they are a valuable tool for several biological applications like linkage mapping, integration of genetic and physical maps, population genetics as well as evolutionary and protein structure-function studies. SNP genotyping by mapping DNA reads produced via Next generation sequencing (NGS) technologies on a reference genome is a very common and convenient approach in our days, but still prone to a significant error rate. The need of defining in silico true genetic variants in genomic and transcript
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20

Kavánková, Iva. "Zálohování dat a datová úložiště." Master's thesis, Vysoké učení technické v Brně. Fakulta podnikatelská, 2021. http://www.nusl.cz/ntk/nusl-444687.

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This diploma thesis is about data backup and following data archiving in real environment of concrete IT company engaged in software development. Theoretical knowledge concerning the area of data backup and data storages is described here. It also describes the current situation of data backup and problems with the current solution. There are suggestions for improving the current situation, including economic evaluation, to achieve efficient and most importantly secure data backup.
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21

Russo, A. "DIET-SPECIFIC EPIGENETIC SIGNATURE REVEALED BY H3K4ME3 AND H3K27ME3 DATA ANALYSIS IN C57BL6 MICE." Doctoral thesis, Università degli Studi di Milano, 2016. http://hdl.handle.net/2434/365343.

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Increasing evidences demonstrate that adapting to different environmental conditions is mediated by epigenetic changes, which can participate in cellular processes. In particular, the adaptation to the different caloric intakes is of great relevance as it is crucial for the organism’s fitness. Moreover, the phenotypic remodeling induced by different diets determine the susceptibility to life-threatening diseases. For example, refined sugar, fat and meat enriched diet, typical of Western countries, is thought to be responsible for about 30-35% of cancer cases, in addition to increased incidence
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22

Robitaille, Alexis. "Detection and identification of papillomavirus sequences in NGS data of human DNA samples : a bioinformatic approach." Thesis, Lyon, 2019. http://www.theses.fr/2019LYSE1358.

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Les papillomavirus humains (HPV) constituent une famille de petits virus à double brin d’ADN qui ont un tropisme pour les cellules épithéliales de la peau et des muqueuses. Plus de 200 types d’HPV ont été découverts, et classifiés en plusieurs genres taxonomiques en fonction de la constitution de leur séquence ADN. De part le rôle de certains HPV dans les maladies affectant les humains, allant de l’apparition de verrues anogénitales bénignes jusqu’au développement d’un cancer, il est nécessaire de développer des méthodes de détection et de caractérisation de la population d’HPV dans un échanti
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23

Chen, Xi. "Bayesian Integration and Modeling for Next-generation Sequencing Data Analysis." Diss., Virginia Tech, 2016. http://hdl.handle.net/10919/71706.

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Computational biology currently faces challenges in a big data world with thousands of data samples across multiple disease types including cancer. The challenging problem is how to extract biologically meaningful information from large-scale genomic data. Next-generation Sequencing (NGS) can now produce high quality data at DNA and RNA levels. However, in cells there exist a lot of non-specific (background) signals that affect the detection accuracy of true (foreground) signals. In this dissertation work, under Bayesian framework, we aim to develop and apply approaches to learn the distributi
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Favero, Francesco. "Development of two new approaches for NGS data analysis of DNA and RNA molecules and their application in clinical and research fields." Doctoral thesis, Università del Piemonte Orientale, 2019. http://hdl.handle.net/11579/102446.

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The aim of this study is focused on two main areas of NGS analysis data: RNA-seq(with a specific interest in meta-transcriptomics) and DNA somatic mutations detection. We developed a simple and efficient pipeline for the analysis of NGS data derived from gene panels to identify DNA somatic point mutations. In particular we optimized a somatic variant calling procedure that was tested on simulated datasets and on real data. The performance of our system has been compared with currently available tools for variant calling reviewed in literature. For RNA-seq analysis, in this work we tested and o
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Wan, Mohamad Nazarie Wan Fahmi Bin. "Network-based visualisation and analysis of next-generation sequencing (NGS) data." Thesis, University of Edinburgh, 2017. http://hdl.handle.net/1842/28923.

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Next-generation sequencing (NGS) technologies have revolutionised research into nature and diversity of genomes and transcriptomes. Since the initial description of these technology platforms over a decade ago, massively parallel RNA sequencing (RNA-seq) has driven many advances in the characterization and quantification of transcriptomes. RNA-seq is a powerful gene expression profiling technology enabling transcript discovery and provides a far more precise measure of the levels of transcripts and their isoforms than other methods e.g. microarray. However, the analysis of RNA-seq data remains
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Dwivedi, Ankit. "Functional analysis of genomic variations associated with emerging artemisinin resistant P. falciparum parasite populations and human infecting piroplasmida B. microti." Thesis, Montpellier, 2016. http://www.theses.fr/2016MONTT073/document.

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Le programme d’élimination du paludisme de l’OMS est menacé par l’émergence etla propagation potentielle de parasites de l’espèce Plasmodium falciparum résistants à l’artémisinine. Récemment il a été montré que (a) des SNPs dans une région du chromosome 13 subissaient une forte sélection positive récente au Cambodge,(b) plusieurs sous-populations de parasites de P. falciparum résistants et sensibles à l’artémisinine étaient présentes au Cambodge, (c) des mutations dans le domaine Kelch du gène k13 sont des déterminants majeurs de la résistance à l’artémisinine dans la population parasitaire ca
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27

Batra, Rajbir Nath. "Decoding the regulatory role and epiclonal dynamics of DNA methylation in 1482 breast tumours." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/274923.

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Breast cancer is a clinically and molecularly heterogeneous disease displaying distinct therapeutic responses. Although recent studies have explored the genomic and transcriptomic landscapes of breast cancer, the epigenetic architecture has received less attention. To address this, an optimised Reduced Representation Bisulfite Sequencing protocol was performed on 1482 primary breast tumours (and 237 matched adjacent normal tissues). This constitutes the largest breast cancer methylome yet, and this thesis describes the bioinformatics and statistical analysis of this study. Noticeable epigeneti
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Schipani, Angela <1994&gt. "Comprehensive characterization of SDH-deficient GIST using NGS data and iPSC models." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2022. http://amsdottorato.unibo.it/10190/1/Schipani_Angela_thesis.pdf.

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Gastrointestinal stromal tumors (GIST) are the most common di tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal (ICCs) or their precursors. The vast majority of GISTs (75–85% of GIST) harbor KIT or PDGFRA mutations. A small percentage of GIST (about 10‐15%) do not harbor any of these driver mutations and have historically been called wild-type (WT). Among them, from 20% to 40% show loss of function of the succinate dehydrogenase complex (SDH), also defined as SDH‐deficient GIST. SDH-deficient GISTs display distinctive clinical and pathological features, and can
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29

Caniato, Elisa. "Development and Application of New Strategies for Genome Scaffolding and Gene Predictio applied to NGS data." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3422022.

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Next Generation Sequencing (NGS) technologies have a great impact both at economical and at research level, with the increasing of data production and the cost reduction and. This new kind of techniques allow the sequencing of thousands of genomes from humans to microbes and they open entirely new areas of biological inquiry, including the investigation of ancient genomes, of human disease, the characterization of ecological diversity, and the identification of unknown etiological agents. The application field could be divided into three main arguments: genomic tasks (genome assembly, SNPs an
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SANDIONIGI, ANNA. "Biodiversity in the era of big data. On the problem of taxonomy assignment and the distribution of diversity in complex biological systems." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/81694.

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The study of complex biological matrices is a remarkable hot topic in biology. Soil, water, gut content are some of these matrices characterized by a prominent number of organisms living in tight connection. Hundreds or thousands of species and/or strains could be present in the same sample coming from different habitats (e.g. soil ecosystem) and showing inter-relationships, mainly energetic, to guarantee their ecosystem health functioning. The discrimination and/or identification of the different biological entities, at least for the eukaryotic components, using traditional morphological appr
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Trebulová, Debora. "Zálohování dat a datová úložiště." Master's thesis, Vysoké učení technické v Brně. Fakulta podnikatelská, 2017. http://www.nusl.cz/ntk/nusl-318599.

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This diploma thesis focuses on ways of backing up data and their practical use in a specific proposal for Transroute Group s.r.o.. In the introduction part the theoretical knowledge on this issue is presented. Next part of the thesis deals with the analysis of the current state of backup in the company. This section is followed by a chapter where several solutions are presented each with their financial evaluation. The ending part is composed of the choice of a specific solution and a time estimate for its implementation.
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BERETTA, STEFANO. "Algorithms for next generation sequencing data analysis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2013. http://hdl.handle.net/10281/42355.

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Two of the main bioinformatics fields that have been influenced by the introduction of the Next-Generation Sequencing (NGS) techniques are transcriptomics and metagenomics. The adoption of these new methods to sequence DNA/RNA molecules has drastically changed the kind and also the amount of produced data. The effect is that all the developed algorithms and tools working on traditional data cannot be applied on NGS data. For this reason, in this thesis we face two central problems in two fields: transcriptmics and metagenomics. The first one regards the characterization of the Alternative S
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Gomes, Ana Rita Silva. "Inovação e exportação nas PME's e nas grandes empresas." Master's thesis, Instituto Superior de Economia e Gestão, 2010. http://hdl.handle.net/10400.5/3387.

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Mestrado em Ciências Económicas<br>O presente estudo faz a análise dos principais factores explicativos das exportações e da despesa em investigação e desenvolvimento (I&D) das PME´s e das grandes empresas a operar em Portugal, para o período 2004-2008. A partir de uma amostra constituída por 200 PME´s e por 30 grandes empresas exportadoras o estudo utiliza dados de painel e os estimadores de efeitos fixos e efeitos aleatórios para estimar os efeitos sobre as exportações e sobre a despesa em I&D. Em relação às exportações, o estudo conclui pelo efeito positivo do aumento da produtividade e da
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34

Carraro, Marco. "Development of bioinformatics tools to predict disease predisposition from Next Generation Sequencing (NGS) data." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426807.

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The sequencing of the human genome has opened up completely new avenues in research and the notion of personalized medicine has become common. DNA Sequencing technology has evolved by several orders of magnitude, coming into the range of $1,000 for a complete human genome. The promise of identifying genetic variants that influence our lifestyles and make us susceptible to diseases is now becoming reality. However, genome interpretation remains one the most challenging problems of modern biology. The focus of my PhD project is the development of bioinformatics tools to predict diseases predispo
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Tominaga, Sacomoto Gustavo Akio. "Efficient algorithms for de novo assembly of alternative splicing events from RNA-seq data." Phd thesis, Université Claude Bernard - Lyon I, 2014. http://tel.archives-ouvertes.fr/tel-01015506.

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In this thesis, we address the problem of identifying and quantifying variants (alternative splicing and genomic polymorphism) in RNA-seq data when no reference genome is available, without assembling the full transcripts. Based on the idea that each variant corresponds to a recognizable pattern, a bubble, in a de Bruijn graph constructed from the RNA-seq reads, we propose a general model for all variants in such graphs. We then introduce an exact method, called KisSplice, to extract alternative splicing events and show that it outperforms general purpose transcriptome assemblers. We put an ex
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Barcelona, Cabeza Rosa. "Genomics tools in the cloud: the new frontier in omics data analysis." Doctoral thesis, Universitat Politècnica de Catalunya, 2021. http://hdl.handle.net/10803/672757.

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Substantial technological advancements in next generation sequencing (NGS) have revolutionized the genomic field. Over the last years, the speed and throughput of NGS technologies have increased while their costs have decreased, allowing us to achieve base-by-base interrogation of the human genome in an efficient and affordable way. All these advances have led to a growing application of NGS technologies in clinical practice to identify the genomics variations and their relationship with certain diseases. However, there is still the need to improve data accessibility, processing and interpreta
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37

Matocha, Petr. "Efektivní hledání překryvů u NGS dat." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2017. http://www.nusl.cz/ntk/nusl-363811.

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The main theme of this work is the detection of overlaps in NGS data. The work contains an overview of NGS sequencing technologies that are the source of NGS data. In the thesis, the problem of overlapping detection is generally defined. Next, an overview of the available algorithms and approaches for detecting overlaps in NGS data is created. Principles of these algorithms are described herein. In the second part of this work a suitable tool for detecting approximate overlaps in NGS data is designed and its implementation is described herein. In conclusion, the experiments performed with this
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38

Padmanabhan, Babu roshan. "Taxano-genomics, a strategy incorporating genomic data into the taxonomic description of human bacteria." Thesis, Aix-Marseille, 2014. http://www.theses.fr/2014AIXM5056.

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Mon projet de doctorat était de créer un pipeline pour taxono-génomique pour la comparaison de plusieurs génomes bactériens. Deuxièmement, je automatisé le processus d'assemblage (NGS) et annotation à l'aide de divers logiciels open source ainsi que la création de scripts de maison pour le laboratoire. Enfin, nous avons intégré le pipeline dans la description de plusieurs espèces bactériennes de laboratoire sur. Cette thèse est divisée principalement en Taxono- génomique et Microbiogenomics. Les avis de la section taxono-génomique, décrit sur les avancées technologiques en génomique et métagén
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Demidov, German 1990. "Methods for detection of germline and somatic copy-number variants in next generation sequencing data." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/668208.

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Germline copy-number variants (CNVs), as well as somatic copy-number alterations (CNAs), play an important role in many phenotypic traits, including genetic diseases and cancer. Next Generation Sequencing (NGS) allows accurate detection of short variants, but reliable detection of large-scale CNVs in NGS data remains challenging. In this work, I address this issue and describe a novel statistical method for detection of CNVs and CNAs implemented in the tool called ClinCNV. I present analytical performance measures of “ClinCNV” in different datasets, compare it with the performance of other exi
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Pesare, Stefano. "Sistemi di Backup e tecniche di conservazione dei dati digitali." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2018.

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La tesi si occupa del problema della conservazione dei dati digitali, spesso sottovalutato. Le odierne tecniche e strategie di conservazione e archiviazione non possono garantire da sole la sicurezza dei dati nel tempo, ma solo se vengono utilizzate sinergicamente. Durante questo percorso capiremo cosa siano i dati digitali, le loro caratteristiche e problematiche inerenti la loro gestione, nonché le tecniche di conservazione e storage. Vedremo come si sono evolute le memorie di massa, dalle schede perforate fino alla nascita dei dischi a stato solido. Inoltre, verranno introdotti il Cloud Com
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Finotello, Francesca. "Computational methods for the analysis of gene expression from RNA sequencing data." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423789.

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In every living organism, the entirety of its hereditary information is encoded, in the form of DNA, through the so-called genome. The genome consists in both genes and non-coding sequences and contains the whole information needed to determine all the properties and functions of each single cell. Cells can access and translate specific instructions of this code through gene expression, namely by selectively switching on and off a particular set of genes. Thanks to gene expression, the information encoded into the active genes is transcribed into RNAs. This set of RNAs reflects the current sta
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Sutharzan, Sreeskandarajan. "CLUSTERING AND VISUALIZATION OF GENOMIC DATA." Miami University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=miami1563973517163859.

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Evenstone, Lauren. "Employing Limited Next Generation Sequence Data for the Development of Genetic Loci of Phylogenetic and Population Genetic Utility." FIU Digital Commons, 2015. http://digitalcommons.fiu.edu/etd/2191.

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Massively parallel high throughput sequencers are transforming the scientific research by reducing the cost and time necessary to sequence entire genomes. The goal of this project is to produce preliminary genome assemblies of calliphorid flies using Life Technologies’ Ion Torrent sequencing and Illumina’s MiSeq sequencing. I located, assembled, and annotated a novel mitochondrial genome for one such fly, the little studied Chrysomya pacifica that is central to one hypothesis about blow fly evolution. With sequencing data from Chrysomya megacephala, its forensically relevant sister species, mu
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Camerlengo, Terry Luke. "Techniques for Storing and Processing Next-Generation DNA Sequencing Data." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1388502159.

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Defibaugh, June, and Norman Anderson. "National Guard Data Relay and the LAV Sensor System." International Foundation for Telemetering, 1996. http://hdl.handle.net/10150/611416.

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International Telemetering Conference Proceedings / October 28-31, 1996 / Town and Country Hotel and Convention Center, San Diego, California<br>The Defense Evaluation Support Activity (DESA) is an independent Office of the Secretary of Defense (OSD) activity that provides tailored evaluation support to government organizations. DESA provides quick-response support capabilities and performs activities ranging from studies to large-scale field activities that include deployment, instrumentation, site setup, event execution, analysis and report writing. The National Guard Bureau requested DESA's
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Alshatti, Danah Ahmed. "Examining Driver Risk Factors in Road Departure Conflicts Using SHRP2 Data." University of Dayton / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=dayton152534759506242.

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蘇金照 and Kam-chiu Ivan So. "Social workers' and NGOs' attitudes towards using computers in social welfare services." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1993. http://hub.hku.hk/bib/B31977467.

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Gatton, Tim. "Using Telemetry Front-end Equipment and Network Attached Storage Connected to Form a Real-time Data Recording and Playback System." International Foundation for Telemetering, 2004. http://hdl.handle.net/10150/605316.

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International Telemetering Conference Proceedings / October 18-21, 2004 / Town & Country Resort, San Diego, California<br>The use of traditional telemetry decommutation equipment can be easily expanded to create a real-time pulse code modulation (PCM) telemetry data recorder. However, there are two areas that create unique demands where architectural investment is required: the PCM output stage and the storage stage. This paper details the efforts to define the requirements and limits of a traditional telemetry system when used as a real-time, multistream PCM data recorder with time taggin
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Ishi, Soares de Lima Leandro. "De novo algorithms to identify patterns associated with biological events in de Bruijn graphs built from NGS data." Thesis, Lyon, 2019. http://www.theses.fr/2019LYSE1055/document.

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L'objectif principal de cette thèse est le développement, l'amélioration et l'évaluation de méthodes de traitement de données massives de séquençage, principalement des lectures de séquençage d'ARN courtes et longues, pour éventuellement aider la communauté à répondre à certaines questions biologiques, en particulier dans les contextes de transcriptomique et d'épissage alternatif. Notre objectif initial était de développer des méthodes pour traiter les données d'ARN-seq de deuxième génération à l'aide de graphes de De Bruijn afin de contribuer à la littérature sur l'épissage alternatif, qui a
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Ekström, Ted, and Eriksson Simon Kristensson. "Datalagring : nätverkslösning." Thesis, Högskolan Kristianstad, Sektionen för hälsa och samhälle, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:hkr:diva-10404.

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I dagens samhälle har många kundföretag problem med datalagringen vilket beror på att behovet av att lagra data började öka kraftigt under 2000-talet och har fortsatt öka sedan dess. När kundföretagen började använda sig av virtualisering så expanderade även datastorleken. I samband med att datastorleken växte ville företagen att data inte skulle lagras lokalt utan att den skulle vara lagrad på en central plats som en serverhall och vara överskådlig. Studien utfördes på tre sätt, först undersöktes vilka datalagringslösningar som fanns och det skedde genom litteraturstudier. Därefter kontaktade
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