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Dissertations / Theses on the topic 'NGS'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Toledo, Rodrigo Atique Ferraz de. "Identificação e análise funcional de mutação associadas às craniossinostoses." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-20122016-090151/.

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As craniossinostoses são malformações craniofaciais caracterizadas pelo fechamento precoce de uma ou mais suturas cranianas. Elas são doenças congênitas e são causadas por mutações em diversos genes devido ao grande número de vias envolvidas na formação e manutenção das suturas cranianas. Embora mutações em 53 genes já tenham sido descritas o conhecimento da genética e da patofisiologia das craniossinostoses ainda é incompleto. Nesse trabalho tivemos como objetivo a identificação de novas mutações associadas às craniossinostoses bem como o aprofundamento do conhecimento sobre a atuação dessas

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2

Riou, Raphaelle. "Contribution à l'étude du rôle des cellules Natural Killer dans le contrôle de l'infection à cytomégalovirus." Thesis, Nantes, 2016. http://www.theses.fr/2016NANT1002/document.

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Les cellules NK, membres de l’immunité innée, sont impliquées dans le contrôle des infections virales et notamment l’infection à cytomégalovirus (CMV). Généralement bien tolérée chez l’individu immunocompétent, l’infection à CMV demeure associée à une forte morbidité chez les individus dont le système immunitaire est compromis (patients transplantés, coinfectés par le VIH) ou immature (fœtus et nouveaux nés). Lors de l’infection par le CMV, une relation étroite s’établit entre le système immunitaire et le virus. Celle-ci génère en effet une forte mobilisation, associée à un profond remodelage,

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3

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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4

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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5

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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6

Mohamed, Bashir. "NGS-baserad metod för fetal blodgruppstypning." Thesis, Linnéuniversitetet, Institutionen för kemi och biomedicin (KOB), 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-106208.

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Hemolytic disease of fetus or newborn (HDFN) är en komplikation där foster eller nyföddas erytrocyter förstörs för tidigt. HDFN uppstår när det föreligger blodgruppsinkompatibilitet mellan moder och barnet. Komplikationerna/ symptomen kan variera allt från mildare symptom till fosterdöd. HDFN orsakas framförallt av antikropp D (RhD-immunisering) och på grund av detta utförs det typning av fetalt RhD i maternell plasma. Utöver RhD-immuniseringar kan svåra fall av HDFN ibland orsakas av andra blodgruppssystem som c (Rh) och K (Kell). Fetal RhD-typning görs idag som screening på alla RhD-negativa

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7

Gorgé, Olivier. "Diagénèse de l’ADN bactérien et analyses métagénomiques de pathologies bactériennes du passé." Thesis, Université Paris-Saclay (ComUE), 2016. http://www.theses.fr/2016SACLS572/document.

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Cette étude a pour objet la mise en évidence de traces d'ADN bactérien pathogène dans des échantillons animaux et humains anciens, et ainsi améliorer les connaissances sur l'évolution des maladies au cours du temps. En parallèle, nous avons étudié les phénomènes de dégradation de l'ADN dans le sol sur des cadavres de souris enterrées après avoir été contaminées par des bactéries non pathogènes. Cette étude des processus taphonomiques s'est étalée sur trois ans et a permis de montrer une disparition rapide des bactéries simulantes, remplacé par l'ADN des bactéries du sol, qui colonisent rapidem

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8

Hammami, Ali. "La sécurité des futures architectures convergentes pour des services personnalisés : aspect architectural et protocolaire." Thesis, Paris, ENST, 2013. http://www.theses.fr/2013ENST0039/document.

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L’émergence et l’évolution des réseaux de nouvelles génération (NGN) a soulevé plusieurs défis surtout en termes d’hétérogénéité, de mobilité et de sécurité. En effet, l’utilisateur est capable, dans un tel environnement, d’avoir accès à plusieurs réseaux, à travers différents terminaux, avec un choix vaste de services fournis par différents fournisseurs. De plus, les utilisateurs finaux demandent à être constamment connectés n’importe où, n’importe quand et n’importe comment. Ils désirent également avoir un accès sécurisé à leurs services à travers une session dynamique, seamless et continue

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9

Nowoshilow, Sergej. "Transcriptome analysis of axolotl spinal cord and limb regeneration." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-205953.

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Regeneration is a relatively widespread phenomenon in nature, although different organisms exhibit different abilities to reconstitute missing structures. Due to the diversity in the extent of damage the organisms can repair it has been debated for a long time whether those abilities are evolutionary traits that arose independently in multiple organisms or whether they represent a by-product of more basic processes. To date, due to constant increase in the amount of available genomic information this question can be approached by means of comparative genomics by comparing several taxa that ha

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10

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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11

Curk, Franck. "Organisation du complexe d’espèce et décryptage des structures des génomes en mosaïque interspécifiques chez les agrumes cultivés." Thesis, Montpellier 2, 2014. http://www.theses.fr/2014MON20223/document.

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Les études préexistantes identifient quatre taxons de base (C. reticulata les mandariniers, C. maxima les pamplemoussiers, C. medica les cédratiers et C. micrantha) à l'origine de l'ensemble des formes cultivées suite à des événements de réticulations. Il en résulte des structures génotypiques complexes, généralement fixées par l'apomixie, fortement hétérozygotes et formées d'une mosaïque de grands fragments chromosomiques d'origines phylogénétiques différentes. La structuration de la variabilité phénotypique suggère que la différenciation initiale des taxons ancestraux est à l'origine d'une p

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12

Roos-Weil, Damien. "Anomalies moléculaires dans la macroglobulinémie de Waldenström : identification d’une mutation somatique récurrente dans le gène codant pour le facteur de transcription SPI1/PU.1 et description de ses conséquences fonctionnelles." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS517/document.

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Les facteurs de transcription ETS sont divisés en sous-familles en fonction de leurs similitudes en matière de séquence protéique, de séquences de liaison à l'ADN et d’interactions avec différents cofacteurs. Ils sont régulés par des signaux extracellulaires et contribuent à divers processus cellulaires, dont la prolifération cellulaire et la transformation tumorale. Les gènes de la famille ETS sont fréquemment ciblés par des processus oncogéniques que ce soit des translocations chromosomiques ou des gains du nombre de leurs copies. Le gène PU.1/SPI1 est également ciblé par des mutations ponct

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13

Pouchon, Charles. "Evolution et adaptation des Espeletiinae dans les Andes tropicales." Thesis, Université Grenoble Alpes (ComUE), 2018. http://www.theses.fr/2018GREAV018/document.

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Les hautes montagnes des Andes du Nord abritent un écosystème de type tropical alpin connu localement sous le nom de páramo. En dépit de conditions climatiques stressantes, ces habitats totalisent 10 à 20% de la richesse de la flore Andine et contiennent les radiations de plantes alpines les plus rapides au monde. Les Espeletiinae (Asteraceae; Heliantheae), endémique de ces habitats et figurant parmi ces exemples majeurs de diversification andine, ont su profiter des avantages écologiques fournit par la formation des páramos, en développant une remarquable diversité morphologique et écologique

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14

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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15

CARECCHIO, MIRYAM. "The impact of Next Generation Sequencing in rare movement disorders diagnosis: results from a tertiary referral center." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2018. http://hdl.handle.net/10281/199033.

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Il termine Next generation sequencing (NGS) si riferisce ad un gruppo di moderne tecnologie di sequenziamento di acidi nucleici che rende possibile l’analisi di un elevato numero di sequenze di DNA o RNA sia per scopi diagnostici che di ricerca. Rispetto al sequenziamento tradizionale secondo Sanger, l’NGS permette di analizzare allo stesso tempo molti geni responsabili di patologie umane o di individuare nuovi geni ancora ignoti. Nel primo caso, vengono utilizzati in diagnostica pannelli genici dedicati, con costi relativamente contenuti e notevole risparmio di tempo rispetto al sequenziament

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16

Ahmad, Syed Farhan. "High Scale Genomic Applied to B chromosome biology." Botucatu, 2019. http://hdl.handle.net/11449/183111.

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Orientador: Cesar Martins<br>Abstract: One of the biggest challenges in chromosome biology is to understand the occurrence and complex genetics of extra, non-essential karyotype elements, commonly known as supernumerary B chromosomes (Bs). Bs are present in diverse species of eukaryotes and their molecular characterization remains elusive for years. A distinguished feature that makes them different from the normal chromosomes (called A chromosomes) is their way of inheritance in irregular fashion. Over the last decades, their genetic composition, function and evolution have remained an unresol

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17

Basílio, Andreia Alexandra de Carvalho. "Avaliação das comunidades de fungos endofíticos em duas castas de videiras do Alentejo com diferentes suscetibilidades a doenças do lenho." Master's thesis, Universidade de Évora, 2021. http://hdl.handle.net/10174/29961.

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As doenças do lenho são das mais importantes doenças associadas à videira. Este trabalho teve como objetivo principal estudar as diferenças da diversidade dos fungos endofíticos e patogénicos e a suscetibilidade de duas cultivares distintas: Trincadeira e Aragonez, em dois locais (A e B). Situadas na Região do Alentejo todas testadas em material lenhoso. Os fungos endofíticos mais encontrados nas amostras de planta foi o pertencente ao género Alternaria, tanto para os dois locais como para as duas cultivares. Nos fungos patogénicos, os mais encontrados nas amostras das plantas foram os fungos

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18

VERGATA, Chiara. "UTILIZZO DELLA METODOLOGIA NGS ASSOCIATA ALLA CATTURA DEL CROMOSOMA Y PER LA CARATTERIZZAZIONE DELLA POPOLAZIONE ITALIANA NELL’ETÀ DEL FERRO." Doctoral thesis, Università degli studi di Ferrara, 2021. http://hdl.handle.net/11392/2487907.

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L’Italia ha rappresentato a lungo un crocevia del Mediterraneo, dove popoli e culture diverse hanno trovato facile approdo nel corso del tempo, giungendo ad un apice durante l’età dei Metalli. Attualmente le conoscenze genetiche dei popoli che hanno concorso al moderno modello di variabilità genetica italiana sono piuttosto scarse. Inoltre, la quasi totalità dei dati disponibili si basa sull’analisi del DNA mitocondriale, in grado di spiegare solo in parte il complesso quadro migratorio. L’indagine genetica delle caratteristiche del cromosoma Y (Y-chr) nelle popolazioni antiche risulta pertant

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19

ROSSI, Rachele. "THE PRESENT AND THE FUTURE OF COLLAGEN VI GENES ANALYSIS: OVERVIEW OF CELLULAR MODELS, GENOME AND TRANSCRIPTOME STUDIES." Doctoral thesis, Università degli studi di Ferrara, 2019. http://hdl.handle.net/11392/2487949.

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Il collagene VI è una proteina della matrice extracellulare che forma un reticolo di microfilamenti nel muscolo scheletrico ed in altri organi. Le mutazioni dei geni del collagene VI causano, nell'uomo, principalmente due malattie genetiche: la miopatia di Bethlem e la distrofia muscolare congenita di Ullrich. Come centro di riferimento nazionale per le neuropatie muscolari, in 12 anni, abbiamo raccolto una casistica di 245 pazienti, indagati a livello genomico e trascrittomico, al fine di catalogare e caratterizzare le mutazioni nei tre geni del collagene VI. La casistica a livello nazionale

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Loe-mie, Yann. "Contribution bioinformatique à l' analyse du transcriptome humain." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM4002/document.

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Dans la première partie j'ai analysé des jeux de données de RNA-seq de transcriptome de petits ARNs disponibles dans les bases de données publiques. J'y ai observé 2 points intrigants : - une grande partie des lectures (bien que courtes) ne peux pas être alignée sur le génome de référence sans discordance et cette fraction non-alignable est parfois majoritaire. - de nombreuses lectures ont des tailles autours de 15-18nt qui ne correspondent à aucun type de petits ARNs connues, cette fraction est également majoritaires dans certains cas. Ces expériences sont souvent conçues pour la détection de

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21

Theodorakopoulos, Nicolas. "Analyse de la diversité bactérienne d'un sol contaminé de la zone d'exclusion de Tchernobyl et caractérisation de l'intéraction engagée par une souche de Microbactérium avec l'uranium." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4108.

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Les accidents nucléaires des centrales de Tchernobyl et de Fukushima rendent primordial la compréhension des transferts de la contamination radioactive dans l'environnement et de ses conséquences écologiques. Bien que certaines études aient été réalisées sur les organismes supérieurs, trop peu ont étudié les communautés bactériennes telluriques, qui jouent pourtant un rôle essentiel dans la mobilité des contaminants dans les sols en diminuant ou en améliorant leur transfert vers d'autres compartiments (eau, végétaux, animaux). Cependant, les radionucléides (RNs) peuvent avoir des effets toxiqu

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Kioroglou, Dimitrios. "Analysis of microbial populations in wines through NGS methodologies." Doctoral thesis, Universitat Rovira i Virgili, 2020. http://hdl.handle.net/10803/670208.

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La vinificación es un proceso complejo que involucra varias etapas hasta el embotellado y comercialización del vino. Durante este proceso, la cantidad limitada de nutrientes provoca la competencia microbiana, que resulta en la producción de metabolitos que modulan el producto final del vino. Esta actividad microbiana puede conferir características organolépticas beneficiosas o indeseables a la calidad del vino. En los últimos años, el enfoque principal se ha centrado en la detección y el seguimiento de microorganismos determinados, que supuestamente estropean el vino, y la aplicación de m

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23

Mohamed, Saleem Mohamed Ashick. "Pipeline intégratif multidimensionnel d'analyse de données NGS pour l'étude du devenir cellulaire." Thesis, Strasbourg, 2015. http://www.theses.fr/2015STRAJ072/document.

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L'épigénomique pourrait nous aider à mieux comprendre pourquoi différents types cellulaires montrent différents comportements. Puisque, dans le cadre d'études épigénétiques, il peut êtrenécessaire de comparer plusieurs profils de séquençage, il y a un besoin urgent en nouvelles approches et nouveaux outils pour pallier aux variabilités techniques sous-jacentes. Nous avons développé NGS-QC, un système de contrôle qualité qui détermine la qualité de données et Epimetheus, un outil de normalisation d'expériences de modifications d'histones basé sur les quartiles afin de corriger les variations te

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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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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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26

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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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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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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GEMELLI, CHIARA. "Genetic approach to neuromuscular disorders in the NGS era." Doctoral thesis, Università degli studi di Genova, 2022. http://hdl.handle.net/11567/1089374.

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Introduction/aims. Currently, there are no straightforward guidelines for the clinical and diagnostic management of neuromuscular disorders. Therefore, I have aimed to describe the diagnostic workflow which is used in my neuromuscular clinic for evaluating patients with this condition. The neuromuscular clinic is situated in IRCCS Policlinico San Martino in Genova and is a neuromuscular university centre in Northwest Italy. Methods. I describe our diagnostic approach to two frequent neuromuscular disorders: hyperCKemia and CMT neuropathy. The first work is an Italian multicentre study evalu

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Risseti, Caroline Hoff. "Moléculas bioativas e filogenia de isolados brasileiros de cianobactérias dos gêneros Dolichospermum, Sphaerospermopsis, Cuspidothrix, Cylindrospermopsis e Microcystis." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/64/64133/tde-18012013-142454/.

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O número crescente de descobertas de substâncias bioativas produzidas pelo metabolismo secundário de cianobactérias tem despertado o interesse de grupos de pesquisa no mundo todo com o objetivo comum de descrever e explorar estas moléculas e entender a sua biossíntese. No Brasil, as pesquisas sobre moléculas bioativas produzidas por linhagens de cianobactérias nativas são escassas. Neste trabalho, utilizando iniciadores específicos da PCR e sequenciamento, a presença de genes envolvidos na biossíntese da neurotoxina saxitoxina (STX) foi confirmada em representantes dos gêneros Dolichospermum,

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LEGA, SARA. "DIAGNOSTIC APPROACH TO MONOGENIC INFLAMMATORY BOWEL DISEASE WITH NEXT-GENERATION SEQUENCING TECHNOLOGIES." Doctoral thesis, Università degli Studi di Trieste, 2019. http://hdl.handle.net/11368/2962378.

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Background & aims: Up to 15% inflammatory bowel diseases (IBD) rising before the age of 6 years, defined as Very-Early-Onset IBD (VEO-IBD), may have a monogenic disease. More rarely monogenic defects are found in later onset IBD. Monogenic IBD are associated with high morbidity and mortality and timely genetic diagnosis is essential for adequate treatment. Due to the wide phenotypic and genetic heterogeneity of these conditions, it is often difficult to reach a genetic diagnosis and the best diagnostic approach is still debated. Next generation sequencing (NGS) techniques have been proposed as

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Paganini, Julien. "L'analyse de données génomiques et l'annotation à l'heure des NGS : la bioinformatique 2.0." Thesis, Aix-Marseille, 2015. http://www.theses.fr/2015AIXM4105.

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Les récents progrès technologiques en termes de séquençage de données génomiques ont entraîné une forte croissance des données disponibles et l'apparition de nouveaux besoins. Initialement limitée à l'analyse de petite quantité de données, la bioinformatique a dû s'adapter à ce nouveau contexte technologique et scientifique afin de répondre aux nouveaux challenges proposés. Par l'intermédiaire de différents projets réalisés dans des contextes différents, cette thèse s'intègre dans ce changement contextuel où la bioinfomatique n'est plus limitée à l'utilisation successive d'outils à objectifs u

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Ducreux, Denis. "Etudes des shunts artério-veineux cérébraux en imagerie par résonance magnétique (IRM) de perfusion." Paris 11, 2005. http://www.theses.fr/2005PA112188.

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Introduction : Les shunts artérioveineux cérébraux provoquent céphalées, épilepsie et déficits neurologiques. Nous avons étudié la physiopathologie de ces affections en IRM de perfusion cérébrale à 1. 5 T, afin d'essayer de corréler les symptômes cliniques avec les anomalies hémodynamiques. Matériels et Méthodes : 39 patients et de 10 volontaires sains, ont été imagés en IRM de perfusion à 1. 5 T, avec injection pulsée de Gadolinium. Les séries d'images IRM ont été analysées en utilisant la méthode de dilution des indicateurs. Les paramètres CBV et CBF ont été mesurés dans deux zones cérébrale

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Yamauchi, Danielle Hamae. "Micobioma associado a amostras de solos do centro-oeste paulista mediante Sequenciamento de Nova-Geração (NGS)." Botucatu, 2020. http://hdl.handle.net/11449/192792.

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Orientador: Eduardo Bagagli<br>Resumo: O reino fungi é constituído por amplos grupos de organismos com reconhecida importância ecológica, industrial ou médica. O solo é um importante reservatório para microrganismos, especialmente fungos, que atuam na decomposição e reciclagem de nutrientes ou se associam com animais e plantas em relações simbióticas ou causando patogenias. Ainda são poucos os estudos relacionados a estrutura do micobioma, sendo rasa a compreensão da diversidade e ecologia de fungos. A compreensão dos padrões de distribuição da diversidade fúngica é essencial para mensurar as

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Pasic, Lana. "Optimization and Application of Genotyping and Identification Techniques for Pneumocystis jirovecii." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29532.

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Pneumocystis species are obligate fungi capable of causing opportunistic infection called Pneumocystis Pneumonia (PCP) in those who are immunocompromised, often resulting in serious disease and a high mortality rate. Due to host specificity and inability to conduct in vitro studies, molecular methods have stepped in to undertake the bulk of epidemiological studies. Many unknows regarding the fungus still exist, and there is little concordance between researchers. This thesis aimed to improve and standardize the identification and genotyping techniques currently used to enable the global resear

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Chen, Jiapeng. "Genomics Studies of Two Cereal Rust Fungi with a Focus on Avirulence Gene Searches." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17658.

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The rust fungi are obligate biotrophic pathogens of a wide range of plants. The plant-pathogen interactions follow a gene for gene manner: a resistance (R) gene from plants can recognize a corresponding avirulence (Avr) gene from rust fungi. This thesis focused on searches for Avr gene in two rust fungi, the wheat stem rust pathogen Puccinia graminis f. sp. tritici (Pgt), and the barley leaf rust pathogen Puccinia hordei (Ph), with Next-generation sequencing (NGS) technologies. In Chapter 2, two Pgt isolates, one wildtype and one mutant derivative that differed in virulence to host R gene Sr50

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Pantoja, Késsia de Fátima da Cunha. "Identificação de vírus em amendoim forrageiro e pimenta por sequenciamento de nova geração /." Botucatu, 2020. http://hdl.handle.net/11449/192529.

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Orientador: Renate Krause Sakate<br>Resumo: A espécie Arachis pintoi, conhecida como amendoim forrageiro, é uma leguminosa nativa do Brasil. Muitas são as utilidades atribuídas ao amendoim forrageiro, sendo seu uso mais comum como espécie forrageira, fornecendo alimento em grande quantidade e qualidade aos animais, em plantios puros ou consórcio com gramíneas. A ocorrência de sintomas de viroses em genótipos e cultivos de amendoim forrageiro tem sido observada por pesquisadores em diferentes estados brasileiros. No Brasil, apenas duas espécies virais já foram relatadas: o Peanut mottle virus-

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HAYASHI, Evelyn Anly Ishikawa. "Detecção de novas espécies virais em inhame (Dioscorea spp.) no Brasil por sequenciamento de nova geração." Universidade Federal Rural de Pernambuco, 2016. http://www.tede2.ufrpe.br:8080/tede2/handle/tede2/6040.

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Submitted by Mario BC (mario@bc.ufrpe.br) on 2016-12-01T12:56:42Z No. of bitstreams: 1 Evelyn Anly Ishikawa Hayashi.pdf: 995457 bytes, checksum: 6e8e0ab5195fade5b6ad359231618e69 (MD5)<br>Made available in DSpace on 2016-12-01T12:56:42Z (GMT). No. of bitstreams: 1 Evelyn Anly Ishikawa Hayashi.pdf: 995457 bytes, checksum: 6e8e0ab5195fade5b6ad359231618e69 (MD5) Previous issue date: 2016-02-29<br>Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPq<br>The yam (Dioscorea spp.) has an important socio-economic role in tropical and subtropical regions of Asia, Africa and t

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Basagni, Chiara. "Identification of rare variants in complex neurological diseases through next generation sequencing." Doctoral thesis, Università del Piemonte Orientale, 2021. http://hdl.handle.net/11579/127794.

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Complex diseases are caused by a complex interaction among genetic and environmental factors. The Identified common variants occount for only a small fraction of the genetic component of these diseases. Therefore, low (1X<5%) and rare (MAR<15) frequency varlants may help fill in some of the heritability Eap. We have focused on two different neurological diseases, Multiple Sclerosis (MS) and Epilepsy. The general aim of the study was on ole side to dentify new low and fare frequency genetic variants associated to the susceptibility to MS in the Italian continental population, and, on the other

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Cattelan, Massimiliano Gianni. "Development of a NGS workflow for diagnostic applications in oncology." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3421843.

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The Ph.D. research work is an integral part of a Horizon 2020 project, called HERCULES project (CompreHEnsive chaRacterisation and effeCtive combinatorial targeting of high-grade seroUs ovarian cancer via singLE-cell analysiS). The topics of the Horizon 2020 project are to comprehensively characterize high grade serous ovarian cancer (HGS-OvCa) by integrating and modeling clinical and biological data (e.g., genetics, transcriptomics, protein binding, drug screens) from primary, metastatic and relapsed tumors from various anatomical sites of HGS-OvCa patients, and establish combinatorial treat

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Cuevas, Sánchez Dolors. "Aplicació de tecnologies d’alt rendiment per a l’anàlisi d’alteracions moleculars i l’heterogeneïtat intratumoral en el càncer d’endometri." Doctoral thesis, Universitat de Lleida, 2020. http://hdl.handle.net/10803/670256.

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Els dos subtipus més freqüents de càncer d’endometri (CE) són el carcinoma endometrioide (CEE) i el carcinoma serós (CSE). El diagnòstic diferencial entre aquestes dues tipologies no sempre és fàcil, hi ha casos que presenten característiques histològiques molt dubtoses i ambigües que dificulten el correcte diagnòstic final. Aquests dos tipus tumorals presenten diferents perfils moleculars i un pronòstic diferencial, fent que el CSE sigui el subtipus més agressiu i amb el pronòstic més desfavorable. Actualment s’està posant en coneixement la importància que pot jugar l’heterogeneïtat intratumo

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Ribeiro, Antonio Cláudio Bello. "LASZLO @ GALAXY - Um protótipo de serviço de montagem de genomas a partir de dados de sequenciamento de próxima geração (NGS)." Instituto Oswaldo Cruz, 2012. https://www.arca.fiocruz.br/handle/icict/6943.

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Submitted by Alessandra Portugal (alessandradf@ioc.fiocruz.br) on 2013-09-20T18:32:48Z No. of bitstreams: 1 Antonio Claudio Bello Ribeiro_Dissertação.pdf: 10104776 bytes, checksum: 898762236c2195576efe34934817220b (MD5)<br>Made available in DSpace on 2013-09-20T18:32:48Z (GMT). No. of bitstreams: 1 Antonio Claudio Bello Ribeiro_Dissertação.pdf: 10104776 bytes, checksum: 898762236c2195576efe34934817220b (MD5) Previous issue date: 2012<br>Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Vice Direção de Ensino, Informação e Comunicação. Rio de Janeiro, RJ, Brasil.<br>As tecnologias NGS (Next-Gene

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Liquori, Alessandro. "Deciphering molecular mechanisms of unusual variants in Usher Syndrome." Thesis, Montpellier, 2015. http://www.theses.fr/2015MONTT016.

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Le syndrome de Usher (USH) est une maladie transmise selon le mode autosomique récessif caractérisée par l’association d’une surdité congénitale (HL) et d’une rétinite pigmentaire (RP), et dans certains cas, d’une aréflexie vestibulaire. Une hétérogénéité clinique et génétique est reconnue. Environ 10 % des cas USH restent non résolus après analyse moléculaire exhaustive des différents gènes. Ces cas incluent les patients qui ne portent aucune mutation dans un des gènes USH connus ainsi que les patients porteurs d’une seule mutation dans un gène USH. Au cours de cette thèse, nous nous sommes i

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Palmieri, Maria. "CfDNA-NGS Liquid Biopsy for solid cancers and vascular malformations." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1120548.

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The liquid biopsy is a new emerging and repeatable low risky approach able to detect drive mutations that characterize the tumor, to monitor cancer evolution over time, and to overcome the standard tissue biopsy limits. The biomarker par excellence is the circulating cell-free DNA (cfDNA) that was the principal leading actor of this study. The scope of this study was to perform different liquid biopsy analysis both in metastatic cancer and in vascular malformations patients to detect, from a precision medicine perspective, the sniper clone responsible for the tumor evolution or the vascular ma

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URTIS, MARIO. "HELPER: UNA PIATTAFORMA BIOINFORMATICA PER LA PERSONALIZZAZIONE DELLE PIPELINE NGS." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1452749.

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Le tecnologie NGS hanno rivoluzionato il mondo della genetica e della medicina, influenzando fortemente la diagnosi delle malattie ereditarie. Il grande numero di applicazioni, sia di diagnostica che di ricerca, ha generato la necessità di adattare l’analisi dei dati prodotti da queste tecnologie per ottimizzare la risposta ai problemi specifici. Il processo di analisi è implementato tramite trasformazioni consecutive dei dati genetici (pipeline) utilizzando un grande numero di tool e software bioinformatici. Spesso le performance dei diversi tool dipendono dal tipo dei dati in ingresso e l’in

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Radulescu, Andreea. "Assemblage de novo de répétitions à partir de données NGS." Nantes, 2015. https://archive.bu.univ-nantes.fr/pollux/show/show?id=f15bab1a-578a-4aa5-adf5-e73169142363.

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Le développement des méthodes de séquençage de nouvelle génération a permis la production de grandes quantités de données à moindre coût. Cependant, les fragments obtenus, appelés reads, possèdent des longueurs plus courtes et des taux d’erreurs plus élevés que ceux obtenus avec les premières méthodes de séquençage. Cela a créé de nouveaux défis pour l’assemblage de génomes. Même si de nombreux assembleurs sont publiés chaque année et que les algorithmes sont de plus en plus élaborés, la reconstruction d’un génome entier de novo, en l’absence de génome de référence, reste un problème difficile

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Kulkarni, Om. "Etude bioinformatique de populations virales au sein de patients infectés par le virus de l'hépatite C." Thesis, Université Grenoble Alpes (ComUE), 2016. http://www.theses.fr/2016GREAS021.

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Le virus de l'hépatite C (VHC) est une menace majeure avec plus de 130 millions de personnes infectées chaque année. Il constitue la principale cause de cancer du foie. Le VHC est un virus transmis par le sang soit au cours de consommation de drogue par voie intraveineuse soit lors de transfusions sanguines. Il s'adapte à l'environnement de l'hôte grâce à un taux de mutation élevé qui amoindrit l’efficacité des traitements. Le virus se multiplie rapidement dans l'hôte et crée ainsi une population de virus génétiquement hétérogènes, appelée quasi-espèces, qui peut ainsi répondre aux pressions s

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Nobile, Maria Lígia Marques de Oliveira. "Identificação e mapeamento de famílias de DNA repetitivo em Characidium sp. aff. C. vidali (Teleostei, Characiformes) e sua atuação na evolução dos cromossomos B." Botucatu, 2019. http://hdl.handle.net/11449/181897.

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Orientador: Fausto Foresti<br>Resumo: Characidium é um grupo de peixes amplamente distribuídos pela região Neotropical, embora seja considerado o mais especioso dentro de Crenuchidae, do ponto de vista citogenético o número de espécies investigadas ainda é baixo, o que dificulta a caracterização quanto a organização cromossômica do gênero. Em relação ao número diploide, as espécies de Characidium conservaram um cariótipo com 2n = 50 cromossomos, do tipo metacêntricos e submetacêntricos (com exceções), o que resulta em uma macroestrutura homogênea para o grupo. Porém, investigações utilizando s

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Sousa, Jessica Motta de. "Distribuição da diversidade genética em Hypsiboas cinerascens (Anura: Hylidae) na Amazônia." Instituto Nacional de Pesquisas da Amazônia, 2015. http://localhost:8080/tede/handle/tede/1982.

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Submitted by Dominick Jesus (dominickdejesus@hotmail.com) on 2016-01-05T19:39:18Z No. of bitstreams: 2 Dissertação_Jessica Motta de Sousa.pdf: 16274582 bytes, checksum: 070535e90da95d5052fdada5bc749d48 (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5)<br>Made available in DSpace on 2016-01-05T19:39:18Z (GMT). No. of bitstreams: 2 Dissertação_Jessica Motta de Sousa.pdf: 16274582 bytes, checksum: 070535e90da95d5052fdada5bc749d48 (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2015-06-18<br>Coordenação de

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Sambourg, Laure. "Décrypter les données omiques : importance du contrôle qualité. Application au cancer de l'ovaire." Thesis, Grenoble, 2013. http://www.theses.fr/2013GRENS027/document.

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Décrypter les données omiques : importance du contrôle qualité. Application au cancer de l’ovaire Au cours des dix dernières années, la taille et la complexité des données biologiques ont littéralement explosé, et une attention particulière doit être portée au contrôle qualité. En effet, certaines données omiques (données génomiques et post-génomiques obtenues à haut débit) sont très incomplètes et/ou contiennent de nombreux biais et erreurs qu’il est facile de confondre avec de l’information biologiquement intéressante. Dans cette thèse, nous montrons que les interactions protéine-protéine is

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