Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 19 of 19 for “"Ion Torrent"”.
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Mapping Bisulfite-Treated Short DNA Reads
… result of the DNA sequence. Epigenetic modification of DNA cytosine plays a role in development and disease. The covalent bonding of a methyl group or a hydroxymethyl group to the 5-carbon of cytosine epigenetically modifies cytosine to 5-methylcytosine or 5-hydroxymethylcytosine. Upon PCR …
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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
… inherited neuromuscular diseases caused by mutations in the dystrophin gene (DMD). Neurofibromatosis type 1 (NF1), caused by mutations in the neurofibromin gene (NF1), is a multisystem genetic disorder that commonly is associated with cutaneous, neurologic, and orthopedic manifestations. Full …
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Next Generation Sequencing-Based Genotyping of Human Blood Groups: FY, JK and ABO Genes
… between donors and patients for blood transfusion may lead to alloimmunisation, especially in multiply transfused patients. Blood group genotyping (BGG) has contributed in reducing this issue. ABO, Fy and Jk antigens are among those to be causative for alloimmunisation through transfusion or …
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Evaluation of microbial dynamics on low-sodium cooked bologna under different packaging conditions
… and pathogenic bacteria on low sodium concentration sliced cooked bologna under refrigerated storage conditions. In study 1, the effect of three different sodium concentrations (1%, 2% and 3%) and two packaging conditions (aerobic and vacuum) on growth of a cocktail of inoculated spoilage …
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Next Generation Sequencing nell'analisi del DNA fetale da plasma materno per la diagnosi prenatale non invasiva di malattie genetiche
… Simultaneously, the large develop of next generation technologies (NGS) has provided a robust method to detect and analyze cfDNA (cell free DNA) from maternal plasma. Our intent is develop new protocols able to carry forward a noninvasive diagnosis starting from cffDNA. In this work, we propose a …
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MR-CUDASW - GPU accelerated Smith-Waterman algorithm for medium-length (meta)genomic data
… the performance of the overlap determination stage of an Overlap Layout Consensus (OLC)-based assembler by using a GPU-based implementation of the Smith-Waterman algorithm. In this thesis an existing GPU-accelerated sequence alignment algorithm is adapted and expanded to reduce its …
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A seasonal comparison of the gut microbiome of the Southern Lesser Galago Galago moholi (A.Smith 1836)
… anthropogenic activities such as urbanisation and the bushmeat trade increase the degree of contact humans have with non-human primates. Zoonotic pathogens have increased the risk of disease emergence significantly. Non-human primates are major reservoirs of zoonotic diseases. The close …
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Bacterial Assemblages And Microbial Enzyme Activity In The Major Tributaries Of The Lower Mississippi River
Spatial variation in the structure and function of bacterial communities is far more complex than previously believed. High throughput sequencing techniques have begun to elucidate the dynamic worldwide patterns of bacterial biogeography; however, there are still many ecosystems for which there is …
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Effects on Campostoma oligolepis Digestive Morphology and Gut Microbiota Composition across a Gradient of Urbanization
… This study investigated the impacts of urbanization on gut length and gut microbiota community composition in <em>C. oligolepis</em> from four small watersheds within the Etowah River drainage basin with different levels of impervious surface coverage (ISC). Individuals were collected from each …
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QTL Analysis of End-Use Quality in a Mapping Population from Texas Wheat
… important end-use quality attributes. A population of 179 F5:7 recombinant lines (RIL) was derived from the cross ‘TAM 111’/TX05A001822. In 2017 and 2018, agronomical traits (heading date, plant height and grain yield) were measured in three different environments (Chillicothe, Dumas, McGregor) …
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Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce
… is usually performed by amniocentesis or chorionic villous sampling. However, these procedures are associated with 0.5%-2% risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal plasma in 1997 has provided a new source of fetal genetic material that can be safely …
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Análise metagenômica da comunidade bacteriana de vacas com distúrbios reprodutivos.
… in cattle have a direct impact on production, leading to a profit decrease. Mycoplasmosis causes a range of reproductive disorders, such as contagious agalactia, mastitis, endometritis, placentitis, abortion, infertility and granular vulvovaginitis. The treatment of these pathologies can …
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Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy
Introduction: Cardiomyopathy is an endemic disease in Africa that is a major contributor to the clinical syndrome of heart failure. The various forms of cardiomyopathies pose a great challenge in Africa for many reasons, including the difficulty of diagnosis and the scarcity of interventions such …
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KIT Mutations in Australian Canine Mast Cell Tumours and Correlations with Patient Prognostic Factors
… prognosis and can be supplemented with the mutational evaluation of the CD117 Proto-Oncogene Receptor Tyrosine Kinase gene, KIT. Dogs with MCTs harbouring an internal tandem duplication (ITD) within exon 11 of the extracellular regulatory domain of KIT are more likely to respond to treatment with …
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Pharmacogenomics of warfarin: comprehensive evaluation of important warfarin genomic response factors
Introduction: Warfarin is the most widely prescribed anticoagulant for the prevention and treatment of thromboembolic diseases. However, warfarin use is complicated by its narrow therapeutic range and inter-individual variability in the starting dose required to achieve a stable international …
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Next-Generation Approaches to Understanding the Diversity and Evolution of Marine Fungi
… of total global diversity projecting millions of species that have yet to be cataloged. Though fungi from all phyla and habitats await discovery, marine fungi are particularly poorly understood. Historical surveys of fungi in marine habitats, which relied primarily on direct culturing or …
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Miocardiopatía hipertrófica: Identificación de nuevos genes mediante técnicas de secuenciación masiva
… codifican proteínas del sarcómero, la unidad funcional contráctil del músculo, entre las que destacan los genes de la cadena pesada de la beta miosina (MYH7) y de la proteína C de unión a la beta miosina (MYBPC3). Entre las dos son responsables de aproximadamente el 50% de los casos de MCH en los …
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A study of the genital microbiotas of black South African women and men: associations with human papillomavirus and HIV infections
Persistent genital infection with oncogenic or high-risk human papillomavirus (HPV) is causally associated with cervical cancer in women and some penile cancers in men. The role of the complex genital microbiota in HPV infection has not been extensively addressed. This study characterised the …
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Implementación de técnicas de secuenciación masiva para el desarrollo de nuevos algoritmos diagnósticos y bioinformáticos en distrófias hereditarias de retina
… CHM; o ceguera nocturna congénita estacionaria, CNCE), a los conos (ej: Distrofia de conos, DC; distrofia de conos y bastones, DCB; alteración en la visión de los colores o acromatopsia, AVC/ACHM; distrofia macular, DM; Retinosquisis, RS; o enfermedad de Stargardt, STGD) o causan la …