Search for dissertations about: "Next-generation sequencing"

Showing result 16 - 20 of 177 swedish dissertations containing the words Next-generation sequencing.

  2. 16. Targeted Long-read Sequencing : Development and Applications in Medical Genetics

    Author : Ida Höijer; Ulf B. Gyllensten; Adam Ameur; Lars Feuk; Winston Timp; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; long-read sequencing; targeted sequencing; targeted enrichment; CRISPR-Cas9; off-targets; medical genetics; repeat expansion; structural variant;

    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

  4. 17. In situ Sequencing : Methods for spatially-resolved transcriptome analysis

    Author : Marco Mignardi; Mats Nilsson; Xiaoliang Sunney Xie; Stockholms universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Padlock probes; rolling circle amplification; in situ sequencing; spatially-resolved transcriptomics; molecular diagnostics; Biochemistry; biokemi;

    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

  5. 18. Prognostic and Predictive Somatic Mutations in Colorectal Cancer

    Author : Luís Nunes; Tobias Sjöblom; Bengt Glimelius; Snehangshu Kundu; Ivaylo Stoimenov; Laura DeLong Wood; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; somatic mutations; next-generation sequencing; whole-genome sequencing; transcriptomics; targeted therapy; prognosis; Medicinsk vetenskap; Medical Science;

    Abstract : Colorectal cancer (CRC) is the third most incident and the second deadliest cancer worldwide. Even though CRC incidence is strongly correlated with age, it has been increasing in developing countries and younger individuals. READ MORE

  6. 19. Impact of Drinking Water Treatment and Pipe Biofilms on Bacterial Dynamics in the Distribution System

    Author : Kristjan Pullerits; Teknisk mikrobiologi; []
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Drinking water treatment; Drinking water treatment plant; UV; Slow sand filter; Ultrafiltration; Drinking water distribution system; Biofilm; Biostability; Nitrification; Bacterial communities; Flow cytometry; Next-generation sequencing; 16S rRNA gene amplicon sequencing;

    Abstract : This thesis addresses drinking water quality and microbiology in full-scale drinking water distribution systems (DWDSs). It examines how UV irradiation and slow sand filters (SSFs) alter the water bacteriome, and how the biofilm in the DWDS affects the drinking water quality. READ MORE

  7. 20. Birds as a Model for Comparative Genomic Studies

    Author : Axel Künstner; Hans Ellegren; Hanna Johannesson; Chris Ponting; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Birds; Selection; Gene expression; Sequence evolution; Next-generation sequencing; Comparative genomics; Molecular evolution; Genomics; Substitution Rates; Non-coding DNA; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

    Abstract : Comparative genomics provides a tool to investigate large biological datasets, i.e. genomic datasets. In my thesis I focused on inferring patterns of selection in coding and non-coding regions of avian genomes. READ MORE