Search for dissertations about: "new generation sequencing"
Showing result 1 - 5 of 93 swedish dissertations containing the words new generation sequencing.
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1. Tagging systems for sequencing large cohorts
Abstract : Advances in sequencing technologies constantly improves the throughput andaccuracy of sequencing instruments. Together with this development comes newdemands and opportunities to fully take advantage of the massive amounts of dataproduced within a sequence run. READ MORE
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2. Targeted Long-read Sequencing : Development and Applications in Medical Genetics
Abstract : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. READ MORE
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3. In situ Sequencing : Methods for spatially-resolved transcriptome analysis
Abstract : It is well known that cells in tissues display a large heterogeneity in gene expression due to differences in cell lineage origin and variation in the local environment at different sites in the tissue, a heterogeneity that is difficult to study by analyzing bulk RNA extracts from tissue. Recently, genome-wide transcriptome analysis technologies have enabled the analysis of this variation with single-cell resolution. READ MORE
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4. Methods to Prepare DNA for Efficient Massive Sequencing
Abstract : Massive sequencing has transformed the field of genome biology due to the continuous introduction and evolution of new methods. In recent years, the technologies available to read through genomes have undergone an unprecedented rate of development in terms of cost-reduction. READ MORE
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5. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations
Abstract : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. READ MORE