Дисертації з теми "Genomic techniques"
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Haghighi, Maryam. "Application of Combinatorial Optimization Techniques in Genomic Median Problems." Thèse, Université d'Ottawa / University of Ottawa, 2011. http://hdl.handle.net/10393/20484.
Повний текст джерелаKhanam, Taslima. "Sex determination and genetic management in Nile tilapia using genomic techniques." Thesis, University of Stirling, 2017. http://hdl.handle.net/1893/25285.
Повний текст джерелаRaiford, Douglas W. III. "Algorithmic Techniques Employed in the Isolation of Codon Usage Biases in Prokaryotic Genomes." Wright State University / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=wright1211902424.
Повний текст джерелаBrown, Margaret M. "Application of genomic techniques to development of biomarkers for the aquatic environment." Thesis, Glasgow Caledonian University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.443169.
Повний текст джерелаSharma, Jason P. (Jason Poonam) 1979. "Classification performance of support vector machines on genomic data utilizing feature space selection techniques." Thesis, Massachusetts Institute of Technology, 2002. http://hdl.handle.net/1721.1/87830.
Повний текст джерелаRenard, Meseguer Joan. "Identification of genes related to seed longevity in Arabidopsis thaliana using genomic molecular techniques." Doctoral thesis, Universitat Politècnica de València, 2021. http://hdl.handle.net/10251/170554.
Повний текст джерела[ES] La longevidad de las semillas, o el tiempo durante el cual permanecen las semillas viables, es de gran importancia para la conservación de la biodiversidad, la agricultura y la economía. Además, el estudio de este parámetro puede contribuir a conocer mejor los mecanismos moleculares comunes a todos los organismos para prevenir el envejecimiento. Una de las principales estrategias de las semillas para ralentizar su envejecimiento consiste en detener su metabolismo, a través de su deshidratación. Otros mecanismos moleculares para evitar daños son el aislamiento frente al entorno a través de la cubierta de la semilla, y la producción de antioxidantes y otras moléculas para evitar el daño oxidativo, uno de los principales causantes del envejecimiento de las semillas. Los mecanismos de reparación mitigan parte del daño acumulado. El organismo modelo de plantas Arabidopsis thaliana brinda la oportunidad de la realización de estudios genómicos para el estudio de, en este caso, la longevidad de las semillas para descubrir nuevos factores genéticos y mecanismos moleculares determinantes. Este conocimiento servirá para entender mejor los procesos de deterioro de las semillas y que también será clave para aumentar la longevidad de estas. Mediante el uso de variedades naturales genotipadas de Arabidopsis thaliana y un estudio de asociación del genoma conocido como GWAS, seguido de estudios de genética reversa, se han identificado 12 nuevos genes relacionados con la longevidad de las semillas, relacionados con la protección del embrión, el control del daño oxidativo, y la permeabilidad de la cubierta de la semilla. El desarrollo de la cubierta de la semilla está determinado por factores de transcripción. Plantas mutantes en diversos factores de transcripción involucrados en el desarrollo de la cubierta de la semilla presentan una longevidad alterada. La sobreexpresión de los factores de transcripción AtHB25 y COG1 provoca que las semillas presenten una mayor longevidad debido a una incrementada deposición de poliésteres lipídicos. Estas barreras de poliésteres lipídicos son la cutícula, formada por cutina, y la suberina. Ambas participan positivamente en la protección del embrión frente al ambiente exterior. Estudios genómicos de ambos factores de transcripción han demostrado que AtHB25 regula directamente a enzimas biosintéticos de los monómeros de suberina y cutina, y COG1 regula la expresión de enzimas relacionados con la polimerización de poliésteres lipídicos y lignina. La regulación en la que participa AtHB25 es muy importante debido a la alta conservación de las secuencias genómicas y funciones de AtHB25 en angiospermas, y parece involucrado en la respuesta a bajas temperaturas. Por otra parte, COG1, que está involucrado en la percepción de luz, regula parte del desarrollo del tegumento externo a través de la regulación de AP2, un factor clave en el establecimiento de la identidad de tejido de este tegumento de la cubierta de la semilla, donde se localiza la suberina. AtHB25 y COG1 están involucrados en la adaptación de la longevidad de la semilla a través de señales ambientales como la temperatura y la luz, respectivamente, regulando la deposición de poliésteres lipídicos.
[CAT] La longevitat de les llavors, o el temps que romanen les llavors viables, es de gran importància per la conservació de la biodiversitat, l'agricultura i l'economia. A més a més, l'estudi d'aquest paràmetre pot contribuir a conèixer millor els mecanismes moleculars comuns a tots els organismes per prevenir l'envelliment. Una de les principals estratègies de les llavor per retardar el seu envelliment consisteix detenir el seu metabolisme, mitjançant la seua deshidratació. Altres mecanismes moleculars per evitar danys son el seu aïllament de l'entorn per mitjan de la coberta de la llavor, i la producció d'antioxidants i altres molècules per evitar el dany oxidatiu, un dels principal causants del envelliment de les llavors. Els mecanismes de reparació mitiguen part del dany acumulat. L'organisme model Arabidopsis thaliana brinda la oportunitat de la realització d'estudis genòmics per a l'estudi de, en aquest cas, la longevitat de les llavors per descobrir nous factors genètics y mecanismes moleculars determinants. Aquest coneixement servirà per entendre millor els processos de deteriorament de les llavor i serà clau per augmentar la longevitat d'aquestes. Mitjançant l'ús de varietats naturals genotipades d'Arabidopsis thaliana i un estudi d'associació del genoma conegut com GWAS, seguits d'estudis de genètica inversa, s'han identificat 12 nous gens relacionats amb la longevitat de les llavors, relacionats amb la protecció de l'embrió, el control del dany oxidatiu, y la permeabilitat de la coberta de la llavor. El desenvolupament de la coberta de la llavor està determinada per factors de transcripció. Plantes mutants a diversos factors de transcripció involucrats al desenvolupament de la coberta de les llavors presenten una longevitat alterada. La sobreexpressió dels factors de transcripció AtHB25 i COG1 provoca que les llavors presenten una major longevitat degut a una deposició de polièsters lipídics incrementada. Aquestes barreres de polièsters lipídics son la cutícula, formada per cutina, i la suberina. Ambdues participen positivament la protecció de l'embrió enfront de l'entorn exterior. Estudis genòmics d'ambdós factors de transcripció han demostrat que AtHB25 directament regula a enzims biosintètics dels monòmers de suberina i cutina i COG1 regula enzims relacionats amb la polimerització de polièsters lipídics i lignines. La regulació en la que participa AtHB25 es molt important degut a l'alta conservació de les seqüències genòmiques i funcions de AtHB25 en angiospermes, i parteix estar involucrat en la resposta a baixes temperatures. Per altra banda, COG1, que està involucrat en la percepció de la llum, regula part del desenvolupament del integument extern mitjançant la regulació de AP2, un factor clau en l'establiment de la identitat de teixit de aquest integument de la coberta de la llavor, on es localitza la suberina. AtHB25 i COG1 estan involucrats en l'adaptació de la longevitat de la llavor per mitjan de senyals ambientals com la temperatura i la llum, respectivament, regulant la deposició de polièsters lipídics.
[EN] Seed longevity, or period that seeds remain viable, is important for biodiversity conservation, agriculture and economy. In addition, the study of this parameter could ease the knowledge about molecular mechanisms common to all organisms to prevent aging. One of the main strategies of seeds to reduce their aging consists to stop their metabolism, through drying. Other molecular mechanisms to avoid damages are the isolation from the environment with the seed coat, and the production of antioxidants and other molecules to avoid oxidative damage, one of the main seed aging causes. Repair mechanisms relieve part of the accumulated damage. The model plant Arabidopsis thaliana provides the opportunity to carry out genomic studies for the research of, in this case, seed longevity to discover determinant genetic factors and molecular mechanisms. This will serve to better understand seed deterioration processes and it will be key to increase seed longevity. Using natural genotyped varieties of Arabidopsis thaliana and a genome-wide association study (GWAS) followed by reverse genetic studies, 12 new genes related to seed longevity have been identified. They are related to embryo protection, oxidative damage control, and seed coat permeability. Seed coat development is determined by transcription factors. Mutant plants in some transcription factors involved in the seed coat development present altered seed longevity. The over-expression of the transcription factors AtHB25 and COG1 resulted in seeds with increased longevity due to an increased lipid polyester deposition. These lipid polyesters barriers are the cuticle, formed by cutin, and the suberin layer. Both participate positively in the embryo protection from the external environment. Genomic studies of both transcription factors have revealed that AtHB25 directly regulates biosynthetic enzymes of suberin and cutin monomers, and COG1 regulates the expression of enzymes related to the polymerization of lipid polyesters and lignin. The regulation involving AtHB25 is crucial due to the high conservation of genomic sequences and functions of AtHB25 in angiosperms, and it seems to be involved in the response to low temperatures. On the other hand, COG1, which is involved in light perception, regulates part of the development of the external integument through its regulation by AP2, a key factor in establishing the tissue identity of this seed coat integument, where suberin is located. AtHB25 and COG1 are involved in seed longevity adaptation through environmental signals such as temperature and light, respectively, regulating lipid polyesters deposition.
Agradezco a las instituciones públicas la inversión en investigación. Gracias a ella, los laboratorios, el personal y los distintos equipos se han podido financiar. Gaetano fue quien me ayudó enormemente conseguir la beca FPI del Ministerio de Economía y Competitividad BES-2015-072096, asociada al proyecto de investigación nacional BIO2014-52621-R-AR
Renard Meseguer, J. (2021). Identification of genes related to seed longevity in Arabidopsis thaliana using genomic molecular techniques [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/170554
TESIS
Compendio
Hinojosa, Galisteo Joan Carles 1993. "Exploring the butterfly speciation continuum : A study on butterfly speciation in the transition to genomic techniques." Doctoral thesis, Universitat Pompeu Fabra, 2021. http://hdl.handle.net/10803/672348.
Повний текст джерелаLes papallones són un dels animals més ben estudiats però, malgrat els esforços dedicats a la seva recerca, el coneixement que tenim sobre la seva diversitat i sobre els mecanismes que la generen és encara incomplet. Per tal d'entendre com les papallones diversifiquen, s'ha examinat el continu de l'especiació en sis casos mitjançant l'ús de la morfometria i de diverses tècniques genètiques (des de la seqüenciació de marcadors específics fins a la genòmica). L'anàlisi de la variació fenotípica i genètica combinada amb evidències sobre el flux genètic ha permès identificar els estats del continu de l'especiació, i.e. l'estudi de les relacions entre poblacions. Aquesta aproximació s'ha usat com a marc (1) per fer hipòtesis taxonòmiques fonamentades i (2) per extreure pistes sobre els mecanismes que dirigeixen l'especiació. Com a resultat, hem descrit i proposat diversos casos de tàxons que havien passat desapercebuts o que s'havien dividit excessivament. Documentem l'existència de tres tipus de mecanismes productors de diversitat en papallones: deriva, selecció i hibridació. La selecció actuà mitjançant l'adaptació a factors ambientals biòtics, que causaren desplaçament de caràcters reproductius, canvi de planta nutrícia i a\ll ocronia produïda per l'adaptació al període de floració de la planta nutrícia. Addicionalment, les tècniques genètiques emprades són avaluades i els seus avantatges i inconvenients discutits.
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.
Повний текст джерелаMy PhD project was to create a pipeline for taxono-genomics for the comparison of multiple bacterial genomes. Secondly I automated the process of assembly (NGS) and annotation using various open source softwares as well as creating in house scripts for the lab. Finally we incorporated the pipeline in describing several bacterial species from out lab. This thesis is subdivided mainly into Taxono-genomics and Microbiogenomics. The reviews in taxono-genomics section, describes about the technological advances in genomics and metagenomics relevant to the field of medical microbiology and describes the strategy taxono-genomics in detail and how polyphasic strategy along with genomic approaches are reformatting the definition of bacterial taxonomy. The articles describes clinically important bacteria, their whole genome sequencing and the genomic, comparative genomic and taxono-genomic studies of these bacteria
Tanov, Emil Pavlov. "The identification of biologically important secondary structures in disease-causing RNA viruses." University of the Western Cape, 2012. http://hdl.handle.net/11394/4562.
Повний текст джерелаViral genomes consist of either deoxyribonucleic acid (DNA) or ribonucleic acid (RNA). The viral RNA molecules are responsible for two functions, firstly, their sequences contain the genetic code, which encodes the viral proteins, and secondly, they may form structural elements important in the regulation of the viral life-cycle. Using a host of computational and bioinformatics techniques we investigated how predicted secondary structure may influence the evolutionary dynamics of a group of single-stranded RNA viruses from the Picornaviridae family. We detected significant and marginally significant correlations between regions predicted to be structured and synonymous substitution constraints in these regions, suggesting that selection may be acting on those sites to maintain the integrity of certain structures. Additionally, coevolution analysis showed that nucleotides predicted to be base paired, tended to co-evolve with one another in a complimentary fashion in four out of the eleven species examined. Our analyses were then focused on individual structural elements within the genome-wide predicted structures. We ranked the predicted secondary structural elements according to their degree of evolutionary conservation, their associated synonymous substitution rates and the degree to which nucleotides predicted to be base paired coevolved with one another. Top ranking structures coincided with well characterized secondary structures that have been previously described in the literature. We also assessed the impact that genomic secondary structures had on the recombinational dynamics of picornavirus genomes, observing a strong tendency for recombination breakpoints to occur in non-coding regions. However, convincing evidence for the association between the distribution of predicted RNA structural elements and breakpoint clustering was not detected.
Visser, Johan Christiaan. "A study of genomic variation in and the development of detection techniques for potato virus Y in South Africa." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21878.
Повний текст джерелаENGLISH ABSTRACT: Potato virus Y (PVY) is responsible for considerable yield losses in the South African potato industry. The incidence of this virus has greatly increased over the past few years. Even more worrying is the variation of symptoms observed during PVY infection and the recent appearance of the more virulent PVYNTN strain in local fields. This project aimed to investigate the possible genetic variation within the viral genome and to establish the origin of strains. The project also aimed to establish a dependable, area specific enzyme-linked immunosorbent assay (ELISA) to replace the currently used ELISAs. Currently seed potato certification is done using ELISA kits imported from Europe. These kits were developed for the detection of overseas variants of PVY and the use thereof in South Africa has in the past lead to false negatives. Finally, this project set out to develop, optimize and establish a sensitive and reliable real-time reverse transcriptase polymerase chain reaction (qRT-PCR) detection protocol for PVY. In the first part of the study the coat protein (CP) gene of PVY isolates from plant material obtained from various parts of South Africa was amplified using RT-PCR. The resulting cDNA was then sequenced directly or cloned into a vector and then sequenced. The resulting sequences were aligned in a data matrix with international reference sequences, analyzed and grouped according to strain. Examination of the CP gene within this matrix as well as phylogenetic analysis revealed six main groups of PVY. These six groups included the traditional PVYN and PVYO groups and a recombinant group. Furthermore it also revealed variants of PVYN and PVYO. These mutants and recombinants pose a threat as they may lead to South African strains of PVY expressing coat proteins which vary from those found overseas. This may render the currently used European ELISA method of detection less effective and subsequently result in an increase in viral prevalence. This reinforced the need for a detection method based on local viral strains. Phylogenetic and Simplot analysis also confirmed that a recombinant strain between PVYN and PVYO had evolved and that PVYNTN was such a recombinant. The second part of the study aimed to develop and establish detection methods based on local variants of PVY. This included the development of ELISA and qRT-PCR detection methods of PVY. Previously amplified cDNA of the PVY CP gene was cloned into an expression vector and successfully expressed. Antibodies produced against the recombinant protein, when used in ELISA, however, failed to achieve the required levels of sensitivity. This prompted the development of qRT-PCR detection methods for PVY. Primer combinations for PVY were designed using the previously established CP gene data matrix. A reliable and sensitive SYBR® Green I based qRT-PCR assay was developed for the detection of PVY. The assay effectively detected all known South African variants of PVY. Furthermore, a Taqman® assay was developed for the detection of all variants of PVY. The Taqman® assay was 10 fold less sensitive and does not allow for amplicon verification through melting curve analysis, but it does add more specificity due to the addition of the probe. Although these qRT-PCR detection methods are still too expensive to replace the routine diagnostics done with ELISA, they do offer the opportunity to screen valuable mother material and confirm borderline cases in seed certification.
AFRIKAANSE OPSOMMING: Aartappel virus Y (PVY) is verantwoordelik vir aansienlike opbrengsverliese in die Suid-Afrikaanse aartappelindustrie. Die insidensie van infeksie deur die virus het drasties toegeneem oor die afgelope jare. Wat egter meer kommerwekkend is, is die groter variasie in simptome van PVY infeksie en die onlangse voorkoms ‘n meer virulente ras, PVYNTN. Hierdie projek poog om moontlike genetiese variasie van PVY te ondersoek en om die oorsprong van rasse op te spoor. Die projek het ook gepoog ook om ‘n bruikbare, betroubare en area spesifieke “enzyme-linked immunosorbent assay” (ELISA) toets te ontwikkel om die huidige ingevoerde ELISA te vervang. Hierdie toetse is ontwikkel om oorsese variante van PVY op te spoor en die gebruik daarvan het in die verlede gelei tot vals negatiewes. Verder is daar ook ondersoek ingestel na die ontwikkeling van ‘n sensitiewe en betroubare “real-time reverse transcriptase polymerase chain reaction” (qRT-PCR) protokol vir die opsporing van PVY. In die eerste deel van die studie is die mantelproteïen geen van PVY isolate vanuit plant materiaal geamplifiseer deur die gebruik van RT-PCR. Hierdie materiaal is vanaf verskeie streke in Suid-Afrika ontvang. ‘n Volgordebepalingsreaksie is uitgevoer op gekloneerde of ongekloneerde cDNA verkry uit die RT-PCR. DNA volgordes is in ‘n data matriks geplaas en vergelyk met internationale volgordes om die plaaslike isolate te analiseer en te groepeer. Deur vergelyking en filogenetiese ontleding kon ses hoofgroepe van PVY geïdentifiseer word, wat tradisionele PVYN en PVYO, sowel as ‘n rekombinante ras en variante binne die tradisionele PVYN en PVYO groepe ingesluit het. Rekombinante en mutante kan veroorsaak dat Suid-Afrikanse rasse van PVY mantelproteïene uitdruk wat afwyk van die oorsese rasse wat tot gevolg mag hê dat die ELISAs van oorsee minder effektief kan wees en kan lei tot verhoogde virus voorkoms. Die realiteit en gevaar versterk die gedagte dat ‘n deteksie metode gebaseer op plaaslike virusse absoluut krities is. Filogenetiese sowel as Simplot analise het bevestig dat ’n mutante ras tussen PVYN en PVYO ontstaan het en dat PVYNTN ’n rekombinante ras is. Die tweede deel van die studie was daarop gemik om deteksie metodes te ontwikkel wat gebaseer was op plaaslike variante van PVY. Dit sluit die ontwikkeling van ELISA sowel as qRT-PCR deteksie van PVY in. Voorheen geamplifiseerde cDNA is in ‘n ekspressievektor gekloneer en suksesvol uitgedruk. Teenliggaampies teen die rekombinante proteïen, indien in ELISA aangewend, kon egter nie die nodige sensitiwiteit oplewer nie. Dit het aanleiding gegee tot ontwikkeling van qRT-PCR deteksie metodes. Inleier kombinasies vir PVY was ontwikkel deur die gebruik van die bestaande mantelproteïen geen data matrikse. ‘n Betroubare en sensitiewe SYBR® Green I qRT-PCR deteksie protokol was ontwikkel vir die effektiewe deteksie van alle bekende Suid-Afrikanse rasse van PVY. Verder is ‘n sogenaamde “Taqman®” protokol ook ontwikkel vir deteksie van alle rasse. Die “Taqman®” protokol was 10 voudiglik minder gevoelig and laat nie bevestiging deur smeltkurwe analise toe nie, maar verleen meer spesifisiteit deur die toevoeging van die “Taqman® probe”. Hierdie qRT-PCR deteksie metodes is tans te duur om as roetine diagnostiese toetse te gebruik en kan dus nie ELISA vervang nie, maar hulle bied wel die geleentheid om waardevolle moeder materiaal te toets en grensgevalle in aartappelsaad sertifisering te bevestig.
Palanca-Wessels, Maria Corinna. "In vitro analysis of cultured Barrett's esophagus cells : insights into mechanisms of genomic instability and possible therapeutic strategies /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/4995.
Повний текст джерелаMlaga, Kodjovi Dodji. "Real-time genomics to decipher atypical bacteria in clinical microbiology." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0594/document.
Повний текст джерелаThe objective of our thesis is to applied the Real-time genomic approaches to decipher bacterial genomic features and genome recombination events of atypical bacteria and their impact on infectious diseases. During my thesis, we have reviewed the most common bioinformatics tools applicable in clinical microbiology and highlight how bacterial genome recombination have impacted their behaviour. The second project of our PhD is to decipher a community outbreak of Staphylococcus saprophyticus involved in (UTI) using MALDI-TOF MS technology and a comparative genome analysis of clinical and non-clinical S. saprophyticus to understand their genomic evolution. We demonstrated that there is a geographically restricted cluster of S. saprophyticus circulating in Marseille community as compared to Nice. Moreover, we showed that S. saprophyticus which was initially considered as a saprophytic bacterium has drifted to becoming a pathogenic bacterium through massive genome recombination and single nucleotide polymorphism events, resulting from a significant loss of genes. The third project of our work is a comparative genome evolutionary analysis of Enterococcus faecalis and Enterococcus faecium isolated from human, animals, and environment to decipher the difference in spread and the acquisition of antimicrobial determinants. We demonstrated that there is a direct association between the absence of CRISPR system, the presence of gene ardA and the acquisition of vancomycin resistance genes, which differentiate E. faecalis from E. faecium. Our final project was focused on the discovering of a new genus Nissabacter and its description
Soulier, Alexandra. "Défis techniques, problèmes éthiques : repenser l'éthique de la recherche en génomique humaine à l'ère des infrastructures de recherche." Thesis, Toulouse 3, 2017. http://www.theses.fr/2017TOU30177/document.
Повний текст джерелаIn genomic research, as in other highly computerised scientific fields, databases and biobanks are today (re-)organised into infrastructures. This new organisational model should support the technical and collaborative effort needed to deal with Big Data, that is, data sets that are too large and too complex to be treated with conventional methods. Establishing these new environments is an actual technical challenge that requires, in order to be operational, appropriate regulatory frameworks that are both open to internationalisation and long-term prospects. But some of these changes are not consistent with current ethics procedures, including the informed consent process. The ethics of genomics research must therefore be reconsidered by asking whether it is in technology that we must draw new solutions for the governance of research or whether we must respond to these evolutions by proposing a political treatment to clarify what we value collectively. This work, which is based on a pragmatist approach, intends to cultivate a reflexive attitude on the changes being made in genomic research by describing situations of moral tension. This requires elucidating the role of biobanks and databases in the production, validation and publication of genomic research; accounting for the conflicts of values to which the development of these devices can give rise when they are incompatible with the current procedures and thus to examine whether the devices as conceived are desirable in the contexts where they are developed. This thesis is based on the analysis of concrete situations, resulting from research projects in which we have been involved or from studies of science in practices (philosophy, anthropology, sociology and history). During this examination, the regulatory idea of a person-member is proposed, in order to favor the consideration of the social and political affiliations of the subject of ethics to research in genomics
Carvalho, Rafael Arrabaça de. "Avaliação do método de sequenciamento de nova geração no diagnóstico genético de neoplasia endócrina múltipla tipo 1." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-10012017-111320/.
Повний текст джерелаThe multiple endocrine neoplasia type 1 (MEN1) is a genetic, autossomic and dominant disease and is correlated with the development of endocrine tumors affecting pituitary gland, parathyroid, endocrine pancreas or duodenum. It is mainly caused by a germinative mutation in tumor suppressor gene MEN1 (11q13). The tumorigenesis follow the Knudson\'s model (1971). Genetic diagnosis of families with MEN1 is essential to recognizes asymptomatic mutation carriers, and allows an earlier detection and treatment of tumors leading to a reduction of mortality and morbidity associated to MEN1. Furthermore, it can exclude family members that do not carry mutations from the periodical screening. The genetic diagnosis for MEN1 is held using Sanger sequencing. However, limitations of this technique make it less cost-effective, mostly, the less capacity of data generation that leads to the need of PCR products up to 700 bp to obtain a suitable read. Moreover, specific conditions of the MEN1 gene contributes to make this process more laborious and expensive, like the need to read all gene sequence (7kb) to make a correct analysis due to the absence of \"hot spots\". This way, the need of \"fragmentation\" to allow the sequencing can hide important information to disease development, mostly in introns. These limitations preclude the clinical application of genetic diagnosis of MEN1. Since 2005, new technologies are available; they are called Next Generation Sequencing (NGS) and consist in a new tool that allow the same sequencing, but with a larger data generation capacity, making them more attractive and costeffective. The NGS also gives a higher speed to the process of data acquiring and allows the complete read of gene, including promoters and introns. Therefore, it makes the results more informative, not forgetting quality aspects. Among lot of options of NGS available, lighter platforms are recommended, for example, Ion PGM and Illumina MiSeq. A strong tendency has been shown in order to change the Sanger sequencing to NGS, including clinical application to genetic diagnosis of complex diseases and inherited cancer. However, there is not previous studies evaluating NGS to MEN1 genetic diagnosis. Thus, present study evaluated NGS as a genetic diagnosis method for MEN1, comparing with Sanger sequencing. This study aimed to validate the NGS method using as model the Sanger sequencing and evaluated sensibility, specificity and costeffectiveness of NGS. For this purpose, 76 index-cases with clinical MEN1 diagnosis were analyzed on Illumina MiSeq. Analyzes were divided in two phases. After analyzes, 96% of reproducibility and 99% of precision were calculated. Accuracy, sensibility and specificity were resulted in 100%. There were not falses negatives or positives. NGS showed more cost-effectiveness with lower costs. This study allowed validation of genetic screening of MEN1 indexcases applying NGS platform
Smalley, Joshua Luke. "Refining and implementing the genomic analysis technique of connectivity mapping." Thesis, University of Leicester, 2013. http://hdl.handle.net/2381/27919.
Повний текст джерелаKruczkiewicz, Peter. "A comparative genomic framework for the in silico design and assessment of molecular typing methods using whole-genome sequence data with application to Listeria monocytogenes." Thesis, Lethbridge, Alta. : University of Lethbridge, Dept. of Biological Sciences, c2013, 2013. http://hdl.handle.net/10133/3391.
Повний текст джерелаxiii, 100 leaves : ill. ; 29 cm
Glaab, Enrico. "Analysing functional genomics data using novel ensemble, consensus and data fusion techniques." Thesis, University of Nottingham, 2011. http://eprints.nottingham.ac.uk/12727/.
Повний текст джерелаSheridan, Paul O. "Genetic analysis and manipulation techniques for dominant butyrate-producing bacteria of the human intestinal microbiota." Thesis, University of Aberdeen, 2014. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=223921.
Повний текст джерелаFortune, Mary Doris. "Statistical techniques to fine map the related genetic aetiology of autoimmune diseases." Thesis, University of Cambridge, 2017. https://www.repository.cam.ac.uk/handle/1810/264764.
Повний текст джерелаElmouelhi, Ahmed (Ahmed M. ). 1979. "Genome scanning : an AFM-based DNA sequencing technique." Thesis, Massachusetts Institute of Technology, 2003. http://hdl.handle.net/1721.1/34149.
Повний текст джерелаIncludes bibliographical references (p. 157-160).
Genome Scanning is a powerful new technique for DNA sequencing. The method presented in this thesis uses an atomic force microscope with a functionalized cantilever tip to sequence single stranded DNA immobilized to a mica surface. The functionalized cantilever tip hybridizes with only one base type (A, C, T, or G) and results in distinct peaks in the AFM-produced image. Genome Scanning has been successful at identifying 40 base strands of synthesized DNA and has been shown to detect a particular base type on 48 kilobase strands of lambda DNA. Currently, Genome Scanning is only accurate to 3-26 bases at a time, however, it can achieve a sequencing speed of 6000 bases/sec. In other words, Genome Scanning can be used to sequence the 3 billion bases of the human genome in 5.78 days.
by Ahmed Elmouelhi.
S.M.
McKie, Arthur Bennett. "Alu-polymerase chain reaction genomic fingerprinting : a technique to identify novel lesions in pancreatic cancer." Thesis, Imperial College London, 1999. http://hdl.handle.net/10044/1/8702.
Повний текст джерелаDickinson, Eleanor. "Characterising disordered proteins of the cancer genome using biophysical techniques." Thesis, University of Manchester, 2017. https://www.research.manchester.ac.uk/portal/en/theses/characterising-disordered-proteins-of-the-cancer-genome-using-biophysical-techniques(e7b59c5c-293c-4d49-b1cf-cb4c0bf2ccd3).html.
Повний текст джерелаBurns, Paul D. "Gene finding in eukaryotic genomes using external information and machine learning techniques." Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/49023.
Повний текст джерелаPiper, Michael Bruce. "The Cryptosporidium parvum genome project and new techniques in HAPPY mapping." Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624351.
Повний текст джерелаCopin, Marie-Pierre. "Contribution au developpement de techniques pour l'etude du genome de frankia." Toulouse 3, 1986. http://www.theses.fr/1986TOU30152.
Повний текст джерелаSánchez, Castro Marta. "Génétique des malformations cardiaques congénitales : apport de la technique de puces à ADN génomique (Comparative Genomic Hybridisation ; aCGH)." Nantes, 2014. https://archive.bu.univ-nantes.fr/pollux/show/show?id=05592c2e-47c9-4945-b913-3119094e970d.
Повний текст джерелаOur project consists of the analysis by aCGH of a series of 316 patients with Congenital Heart Defects (CHD) such as transposition of the great arteries, tetralogy of Fallot and coarctation of the aorta with the aim to detect genomic microdeletions and microduplications and thus to identify new genes contributing to CHD. The identification of new genes contributes to improve the understanding of the molecular and embryological mechanisms underlying these defects and enable better genetic counseling. Our study led to the identification of rare de novo or inherited 21 microdeletions and 50 microduplications, some of them comprising candidate genes for CHD. Bioinformatic analysis of the data demonstrated that many microdeletions/microduplications include genes with FOXC1 transcription factor binding sites. These microdeletions/microduplications might hamper the expression of genes that are regulated by FOXC1 during heart development. Otherwise, among the rearrangements identified, we detected a ~1 Mb deletion upstream of SOX9 in patients presenting with heart defects and Pierre Robin syndrome. We have shown that this deletion includes several putative cardiac enhancers. These results suggest that deregulation of SOX9 might be responsible for CHD. Finally, we identified a duplication of the 5’ half of SEMA3D, generating a truncated poly-A tailed mRNA of SEMA3D. These results suggest that truncated SEMA3D may have hampered the migration of cardiac neural crest cells during heart development, and thus contributed to CHD
Widén, Frederik. "Porcine cytomegalovirus : studies on the viral genome and development of novel diagnostic techniques /." Uppsala : Dept. of Veterinary Microbiology, Swedish Univ. of Agricultural Sciences ([Institutionen för veterinärmedicinsk mikrobiologi], Sveriges lantbruksuniv, 2002. http://epsilon.slu.se/avh/2002/91-576-6388-2.pdf.
Повний текст джерелаJohnson, Matthew David. "Understanding the regulation of acid resistance in E. coli using whole genome techniques." Thesis, University of Birmingham, 2011. http://etheses.bham.ac.uk//id/eprint/3006/.
Повний текст джерелаParida, Mrutyunjaya. "Exploring and analyzing omics using bioinformatics tools and techniques." Diss., University of Iowa, 2018. https://ir.uiowa.edu/etd/6244.
Повний текст джерелаAleksandra, Patić. "Značaj molekularne dijagnostike u dokazivanju virusnog gastrointestinalnog sindroma u Vojvodini." Phd thesis, Univerzitet u Novom Sadu, Medicinski fakultet u Novom Sadu, 2018. https://www.cris.uns.ac.rs/record.jsf?recordId=106859&source=NDLTD&language=en.
Повний текст джерелаIntroduction: Viral gastrointestinal syndrome is a current ongoing health problem worldwide. This is true of both developed and developing countries, especially underdeveloped ones where it is the second leading cause of mortality. Sudden onset of the disease—accompanied by the occurrence of large numbers of liquid stools, nausea, vomiting, abdominal pain, fever, and exhaustion—leads to dehydration. A fatal outcome can occur in all age groups of patients, especially very young children, the elderly, and the immuno-deficient, unless an accurate etiological diagnosis of the disease is quickly established, followed by a prompt institution of fluid and electrolyte placement, and implementation of other symptomatic therapy measures. Quick establishment of an accurate diagnosis, which is best achieved using the real-time PCR test, prevents the onset of complications, including a potentially fatal outcome of the disease. Simultaneously, it enables the implementation of appropriate epidemiological measures to prevent epidemic outbreaks and their spread. The aim of this study was to accurately determine the incidence of viral gastrointestinal syndrome in Vojvodina and the frequency of epidemic and sporadic occurrence of this disease. The aim was also to set up an algorithm for the application of the real-time PCR test in diagnostics of viral gastrointestinal syndrome in future work. Likewise, the aim was to carry out genetic typing and determine phylogenetic affiliation of the virus using molecular analysis and sequencing of parts of genomes from positive stool samples. Material and Methods: During a five-year study, 1003 patients with symptoms of viral diarrheal syndrome, aged from one month to more than 90 years old, were examined using molecular real-time PCR test. They were screened for rota, noro, astro, and enteric adenoviruses. Based on the data from survey questionnaires and medical case history, all clinical indicators were meticulously analyzed (disease occurrence during the year, disease duration, symptoms). The assessment of the clinical severity was carried out according to the Vesikari Clinical Severity Scoring scale. All data were compared according to the type of the viral causing agent, age of the patients, duration of research in years, and epidemic and sporadic occurrence of the disease. Obtained data were statistically analyzed, tabulated, and graphically displayed. Results: In a five-year period, a sample of 1003 patients of different ages was screened for four different viral causing agents of diarrheal syndrome (rota, noro, astro, and enteric adenoviruses) using the real-time PCR test. Viral diarrheal syndrome was confirmed in 709 patients (70.69%). The most commonly found were rotavirus infections in 28.81% of the cases. Rotaviruses were statistically significantly most common in children younger than 5 years old (38.90%), but were also found in high percentage in children aged 6-14 years old (24.83%). Children under 5 years of age had statistically significantly highest clinical severity and fever, and were more frequently hospitalized. In addition to higher fever in patients with rotavirus, clinical severity in these patients was also higher, and the disease lasted longer than in patients with other viruses. Norovirus infections were reported in 23.03% of the subjects, statistically significantly more frequently in adults over 20 years of age. Regarding the clinical symptoms in these patients, nausea, vomiting, and abdominal pain were statistically significantly more common than in patients with other viruses. Noroviruses were significantly more common as causing agents of epidemic disease outbreaks. Astrovirus was found in a significantly smaller number of patients (in 2.29%), and only in children under 5 years of age and children aged 6-14 years old. Enteric adenovirus infections were reported in 13.36% of the subjects. They were most commonly found in children younger than 5, and those aged 6- 14 years old. Adenovirus sufferers had statistically significantly milder clinical disease. Two viral causing agents in the stool sample were found in 3.19% of the subjects, usually during an epidemic disease outbreak. These patients had a significantly more severe clinical disease. Highest numbers of sufferers from diarrheal syndrome occurred during the cold months, although they were diagnosed throughout the year. In a five-year period, 22epidemics in collective groups and 9 family epidemics were identified. Epidemic outbreaks of the disease were statistically significantly most frequent in the elderly patients (older than 50), while sporadic occurrences were statistically significantly most frequent in children. Representative samples positive for rota, noro, astro, or adenoviruses were selected in order to confirm the accuracy of virus diagnostics in samples tested by the real-time PCR test, and perform genotyping as well as more detailed molecular analyses. Parts of the genomes of these samples were amplified and then sequenced. Sequenced rotavirus isolates belonged to group A and types G1P[8], G2P[4], G3P[8], and G9P[8]. Sequenced norovirus isolates belonged to genogroup I type 2, and genogroup II types 1, 2, 4, and 17. Sequenced astrovirus isolates belonged to the group of classical astroviruses and types 1, 4, and 5. Sequenced adenovirus isolates belonged to group F and types 40 and 41, as well as group C type 2. The affiliation of the obtained sequences in this study was further confirmed by creating a phylogenetic tree for sequences positive for rota, noro, astro, or adenoviruses. Conclusion: The incidence of viral diarrheal syndrome in Vojvodina (70.69%) is very high—higher than what was assumed at the time of the thesis submission (in the hypothesis). The real-time PCR test should be regularly used in future diagnostic work, since it leads to rapid diagnostics even if viruses are present in small numbers in liquid stool samples, as determined in the course of this diagnostic study. The investigated viruses should be regularly tested in patients with diarrheal syndrome belonging to all age groups during both epidemic and sporadic occurrences of the disease.
Jung, Young-Sang. "Rapid determination of protein structures in solution using NMR dipolar couplings." Doctoral thesis, [S.l.] : [s.n.], 2005. http://webdoc.sub.gwdg.de/diss/2005/jung/jung.pdf.
Повний текст джерелаNyman, Joel. "Övning och kreativ process genom Paradise League." Thesis, Kungl. Musikhögskolan, Institutionen för jazz, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:kmh:diva-3988.
Повний текст джерелаEvans, Daniel T. "A SNP Microarray Analysis Pipeline Using Machine Learning Techniques." Ohio University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1289950347.
Повний текст джерелаHjort, Amanda. "Könsroller och Härskartekniker i Twilight : (re)produktion av patriarkalgenusstrukturer genom smäktande kärlekshistoria?" Thesis, Södertörns högskola, Lärarutbildningen, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:sh:diva-16516.
Повний текст джерелаUlenius, Martina, and Ruiz Ulrika Tranemyr. ""Jag påverkade henne och hon påverkade mig" : en studie av personliga erfarenheter av att genomgå en Tapas Acupressure Technique- behandling." Thesis, Ersta Sköndal University College, Department of Social Work, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-357.
Повний текст джерелаHu, Jinnan. "Exploring Genome Structure and Gene Regulation Related to Virulence in Fungal Phytopathogens Using Next Generation Sequencing Techniques." The Ohio State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=osu1366213390.
Повний текст джерелаFrisell, Malin, and Rama Malki. "Att härska genom internkommunikation : En observationsstudie om kvinnliga ledare." Thesis, Högskolan i Gävle, Företagsekonomi, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-32956.
Повний текст джерелаTitle: To rule through internal communication – An observational study about female leaders Level: Student thesis, final assignment for Bachelor Degree in Business Administration Authors: Rama Malki and Malin Frisell Supervisor: Monika Wallmon and Svante Brunåker Date: 2020 - June Aim: The aim of this study is to increase the understanding of how female leaders uses and are exposed to master suppression techniques, focusing on internal communication. Method: This study is qualitative with a deductive approach. The empirical material has been conducted and implemented through five unstructured observations and has later been interpreted and analyzed. Analysis & conclusions: Women use and are exposed to master suppression techniques that are more kind or utilizes feelings, and that there are indications that both biological gender and communication styles can affect which techniques that are used. Various master suppression techniques are used by female leaders and risk to impair the effectivity of the communication. Therefore, we can draw the conclusion that the female leaders we have observed should continue to improve their communication by increasing awareness about master suppression techniques, in order to communicate more successfully. Contribution of the thesis: The master suppression techniques have been observed through nonverbal and verbal communication, but also through jokes and a more serious tone. This study has indicated that female leaders have more of a relationship-oriented communication, tend to use master suppression techniques of a kinder nature. The study has also indicated that those women using a masculine communication style, risk to be misunderstood for using master suppression techniques. Suggestions for future research: Comparisons between men and women, in various branch of industries and through larger studies to draw conclusions whether it is possible to generalize master suppression techniques to biological gender and communication style. Furthermore, the effects that stereotypical threats have on master suppression techniques could be researched. Key words: Master suppression techniques, internal communication, female leaders, leadership, stereotypes.
Löllgen, Ruth Mari Caroline. "Genome wide screening of loss of heterozygosity in human midgut carcinoid tumors with fluorescent technique." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=972556702.
Повний текст джерелаLöllgen, Ruth Mari Caroline. "Genome-wide screening of loss of heterozygosity in human midgut carcinoid tumors with fluorescent technique." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2004. http://dx.doi.org/10.18452/15047.
Повний текст джерелаBackground: Midgut carcinoid tumors are rare malignant tumors with origin in the neuroendocrine cells of the small intestine. Due to secretion of a variety of peptide hormones and biogenic amines they cause the carcinoid syndrome. Metastases are often present at first diagnosis. Despite this, patients have a realistic chance to survive for a prolonged period (30% (unresectable/metastatic disease) -79% (non-metastatic disease) 5-year survival rate) if treated by a combination of surgery and medication. Unlike their foregut counterparts, midgut carcinoid tumors are not or rarely associated with the multiple endocrine neoplasia type 1 (MEN1) syndrome. The genetic back-ground to tumorigenesis of these neoplasms is unknown. In contrast, the events involved in tumorigenesis of gastroenteropancreatic adenocarcinomas are better characterized with frequent mutations e.g. of the Smad4/DPC4, Smad2/MADR2/JV18-1 and DCC genes on chromosome 18. Methods: Eight metastatic midgut carcinoids were analysed by a genome-wide screening for loss of heterozygosity using 131 PCR-amplified fluorescent-labelled microsatellite markers. DNA sequence analysis using oligonucleotide primers flanking exons 8-11 of the Smad4/DPC4 gene and immunohistochemical staining with Smad4/DPC4 antibodies was performed. Results: Chromosome 18 was deleted in seven out of eight tumors (88%). All but one of these tumors had lost both 18p and 18q, the remaining tumor had lost the long arm but retained the short arm. Several other chromosomal alleles were lost in a subset of the tumors. Loss of heterozygosity (LOH) on chromosome 11q13, the MEN 1 locus, was not found. Smad4/DPC4 wild-type sequence and normal immunohistochemical staining for Smad4/DPC4 protein was found for all analysed tumors. Conclusions: Our finding of a high frequency of chromosome 18 deletions in 88% of the tumors strongly suggests that midgut carcinoid tumorigenesis might involve inactivation of a candidate tumor suppressor gene located in that region while Smad4/DPC4 is unlikely to be involved in that process. A more detailed analysis of the genetic events in midgut carcinoid tumors is warranted to clarify their neogenetic origin.
Alveteg, Ellen. "Dra stråken till sin spets : En undersökning av extended techniques för viola genom instudering av Viola Spaces av Garth Knox." Thesis, Luleå tekniska universitet, Institutionen för konst, kommunikation och lärande, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:ltu:diva-69373.
Повний текст джерелаGreco, Claudia <1976>. "Genomic characterization of the italian wolf (Canis lupus): the genes involved in black coat colour determination and application of microarray technique for snps detection." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1729/.
Повний текст джерелаMonlun, Eric. "Diagnostic virologique des infections a papillomavirus de type 16 et 18 : mise au point d'une technique d'amplification genomique (pcr : [polymerase chain reaction])." Université Louis Pasteur (Strasbourg) (1971-2008), 1990. http://www.theses.fr/1990STR1M093.
Повний текст джерелаZhu, Zeyu. "Multi-Omics Stress Responses and Adaptive Evolution in Pathogenic Bacteria: From Characterization Towards Diagnostic Prediction." Thesis, Boston College, 2020. http://hdl.handle.net/2345/bc-ir:108912.
Повний текст джерелаThesis advisor: Welkin Johnson
Pathogenic bacteria can experience various stress factors during an infection including antibiotics and the host immune system. Whether a pathogen will establish an infection largely depends on its survival-success while enduring these stress factors. We reasoned that the ability to predict whether a pathogen will survive under and/or adapt to a stressful condition will provide great diagnostic and prognostic value. However, it is unknown what information is needed to enable such predictions. We hypothesized that under a stressful condition, a bacterium triggers responses that indicate how the stress is experienced in the genome, thereby correctly identifying a stress response holds the key to enabling such predictions. Bacterial stress responses have long been studied by determining how small groups of individual genes or pathways respond to certain environmental triggers. However, the conservation of these genes and the manner in which they respond to a stress can vary widely across species. Thus, this thesis sought to achieve a genome-wide and systems-level understanding of a bacterial stress response with the goal to identify signatures that enable predictions of survival and adaptation outcomes in a pathogen- and stress-independent manner. Here, we first set up a multi-omics framework that maps out a stress response on a genome-wide level using the human respiratory pathogen Streptococcus pneumoniae as a model organism. Under an environmental stress, gene fitness changes are determined by transposon insertion sequencing (Tn-Seq) which represents the phenotypic response. Differential expression is profiled by RNA-Seq which represents as the transcriptional response. Much to our surprise, the phenotypic response and transcriptional response are separated on different genes, meaning that differentially expressed genes are poor indicators of genes that contribute to the fitness of the bacterium. By devising and performing topological network analysis, we show that phenotypic and transcriptional responses are coordinated under evolutionary familiar stress, such as nutrient depletion and host infection, in both Gram-positive and -negative pathogens. However, such coordination is lost under the relatively unfamiliar stress of antibiotic treatment. We reasoned that this could mean that a generalizable stress response signature might exist that indicates the level to which a bacterium is adapted to a stress. By extending stress response profiling to 9 antibiotics and 3 nutrient depletion conditions, we found that such a signature indeed exists and can be captured by the level of transcriptomic disruption, defined by us as transcriptomic entropy. Centered on entropy, we constructed predictive models that perform with high accuracy for both survival outcomes and antibiotic sensitivity across 7 species. To further develop these models with the goal to eventually enable predictions on disease progression, we developed a dual RNA-Seq technique that maps out the transcriptomic responses of both S. pneumoniae and its murine host during lung infection. Preliminary data show that a high entropy is observed in the pathogen’s transcriptome during clearance (a failed infection) compared to a successful/severe infection, while the host transcriptome exhibits a pro-inflammatory and active immune response under the severe infection. Lastly, we characterized evolutionary trajectories that lead to long-term survival success of S. pneumoniae, for instance this means that the bacterium successfully adapts to the presence of an antibiotic and becomes resistant or can grow successfully in the absence of a formerly critical nutrient. These trajectories show that adaptive mutations tend to occur in genes closely related to the adapted stress. Additionally, independent of the stress, adaptation triggers rewiring of transcriptional responses resulting in a change in entropy from high to low. Most importantly, we demonstrate that by combining multi-omics profiles with additional genomic data including gene conservation and expression plasticity, and feeding this into machine learning models, that adaptive evolution can become (at least partially) predictable. Additionally, the genetic diversity in bacterial genomes across different strains and species can indeed influence a bacterium’s adaptation trajectory. In conclusion, this thesis presents a substantial collection of multi-omics stress response profiles of S. pneumoniae and other pathogenic bacteria under various environmental and clinically-relevant stresses. By demonstrating the feasibility of predictions on bacterial survival and adaptive outcomes, this thesis paves the way towards future improvements on infectious disease prognostics and forecasting the emergence of antibiotic resistance
Thesis (PhD) — Boston College, 2020
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Biology
Hooghvorst, Isidre. "Development of doubled haploids, chromosome doubling and CRISPR/Cas9 techniques in melon for the next generation of breeding." Doctoral thesis, Universitat de Barcelona, 2021. http://hdl.handle.net/10803/673451.
Повний текст джерелаPham, Hoang Son. "Nouvelles techniques d'extraction de motif pour l'étude d'association à l'échelle du génome." Thesis, Rennes 1, 2017. http://www.theses.fr/2017REN1S074/document.
Повний текст джерелаDiscovering high-order SNP combinations associated with diseases is an important task of bioinformatics. Once new genetic associations are identified, they can be used to develop better trategies to detect, treat and prevent the diseases. Recently, this issue has been effectively tackled with discriminative pattern mining algorithms. However, the number of SNPs is often very large, discovering of SNP combinations remains many challenges. To address these challenges this thesis has been advanced the state-of-the-art discriminative pattern mining techniques to discover SNP combinations associated with interesting phenotype. Different solutions have been proposed in this thesis to tackle GWAS analysis. These solutions focus on efficient association strength evaluation, statistically significant discriminative SNP combinations discovery and interesting SNP combinations visualization. The solutions proposed in this thesis are also promising for other tasks of bioinformatics such as differential gene expression discovery, phosphorylation motifs detection and regulatory motif combination mining
St, John Oliver Tudor Lockhart. "Genome engineering and gene drive in the mosquito aedes aegypti." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:1251080e-cf7b-4bdd-b01e-d01748ead2d2.
Повний текст джерелаApaire-Marchais, Véronique. "Le genome de l'hepatite a : mise au point de techniques de detection chez l'homme et dans l'environnement ; etude de souches d'une epidemie." Nantes, 1994. http://www.theses.fr/1994NANT09VS.
Повний текст джерелаGrégoire, Marie-Chantal. "Cartographie des cassures bicaténaires du remodelage chromatinien du spermatide et développement des outils techniques associés." Thèse, Université de Sherbrooke, 2016. http://hdl.handle.net/11143/9715.
Повний текст джерелаAbstract : Germline mutations may arise from several endogenous and exogenous mechanisms in both male and female. However, recent next-generation sequencing (NGS) data confirmed that de novo mutations arise primarily in males. This observation suggests that specific spermatogenesis events are involved in the male mutation bias. One potential origin for male-driven mutations is the differentiation of spermatids into spermatozoa, which involves one of the most striking and global chromatin remodeling processes, where histone-bound chromatin is converted into highly condensed protaminated DNA toroid. Using pulse-field gel electrophoresis and comet assay on flow cytometry sorted cells, it was established that chromatin remodeling process is characterized by a transient surge in DNA double strand breaks (DSBs) in the whole population of murine spermatids, which get repaired by the end of spermiogenesis. Using a highly active nuclear extract and immunofluorescences, topoisomerases and markers of DNA repair systems were shown at these steps. Since haploid cells cannot rely on homologous recombination for templated DNA repair, it was hypothesized that this process may be genetically unstable and largely responsible for the observed male de novo mutations bias. Although very challenging, a method allowing the specific genome-wide mapping of DSBs using NGS was developed to establish the genomic distribution of DSBs during chromatin remodeling. It was shown that intergenic regions were enriched in DSBs, particularly LINE1, satellite DNA and simple repeats. Motif finding on potential hotspots showed that proteins from FOX and PRDM families may be implicated. Although homologous recombination cannot take place during spermiogenesis, an enrichment in BRCA1 motif was found, which is also known to be implicated in NHEJ and removal of topoisomerase adducts. Topoisomerase-like SPO11 motif was also enriched suggesting that the meiotic machinery may also be implicated during chromatin remodeling. Moreover, although DSBs tend to accumulate in intergenic regions, gene ontology analysis of hotspot-containing genes showed a marked enrichment in genes related to neurons and brain development. This result hence supports the fact that neurological disease associated mutations are also male biased and associated with advanced paternal age. Since DSB formation during spermiogenesis is conserved through evolution, these results suggest that chromatin remodeling in spermatids represents a significant component in the reported male de novo mutation bias.
Ferreira, de Carvalho Julie. "Évolution du génome des spartines polyploïdes envahissant les marais salés : apport des nouvelles techniques de séquençage haut-débit." Phd thesis, Université Rennes 1, 2013. http://tel.archives-ouvertes.fr/tel-00795861.
Повний текст джерелаHolmberg, Pontus. "Pianoundervisning genom genren? : En intervjustudie av lärares syn på sig själva och sin undervisning inom klassiskt piano och afropiano." Thesis, Karlstads universitet, Musikhögskolan Ingesund, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-26535.
Повний текст джерелаThe purpose of this study is to identify differences and similarities in various piano teachers’ teaching approach, and investigate whether their approach and methods relate to the respective genres they teach. In research and literature, contradictions that can be linked to ”afro” and ”classical” have been investigated and described in contrasts like ear for music versus sheet music or improvisation versus reproduction. Contractions like that form the basis to this study’s area of interest. The study is based on a socio-cultural perspective, which means that learning is seen as a social activity, where knowledge exists in communication and the tools that have been developed in the community. The data consists of qualitative interviews with four more or less active musicians/piano teachers (two “afro” teachers and two classical teachers) with different work situations. The result shows that personalization, musical meaning and joyfulness are highly valued in all their piano teaching. The goal seems to be the students´ experiences of joy in making music, rather than that they should become "great" and famous pianists. It is considered that the student has the primary responsibility in evolving and staying motivated. Focus on technique and training is connected to the student's needs. Musicality will always be in focus. “Unmusical” exercises are considered to be inhibiting the expression and motivation. To include improvisation in teaching is seen as important. The informants have somewhat different approaches and goals with improvisation. The classical music teachers work with rhythmic and tonal templates designed to get students to evolve and/or get courage to play without sheet music. “Afro” teachers focus more on playing a particular song and finding personal expressions in improvisation.