Sökning: "bioinformatics"

Visar resultat 1 - 5 av 98 uppsatser innehållade ordet bioinformatics.

  1. 1. Whole-Genome Sequencing of two Swedish Individuals on PromethION

    Master-uppsats, Lunds universitet/Examensarbeten i bioinformatik

    Författare :Nazeefa Fatima; [2019]
    Nyckelord :Biology and Life Sciences;

    Sammanfattning : Background: Chromosomes can undergo various changes such as deletions, inversions, insertions, and/or translocations resulting in structural variation differences between individuals. Structural variants are a common source of variability in the human genome and have been known to be associated with common diseases such as autism, cancer, and rare human diseases [1, 2]. LÄS MER

  2. 2. Detection of artefacts in FFPE-sample sequence data

    Uppsats för yrkesexamina på avancerad nivå, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Hugo Swenson; [2019]
    Nyckelord :Cancer; FFPE; Sequence Artefacts; Precision Medicine; Bioinformatics; Program;

    Sammanfattning : Next generation sequencing is increasingly used as a diagnostic tool in the clinical setting. This is driven by the vast increase in molecular targeted therapy, which requires detailed information on what genetic variants are present in patient samples. LÄS MER

  3. 3. Evaluation of next-generation sequencing as a tool for determining the presence of pathogens in clinical samples

    Master-uppsats, Högskolan i Skövde/Institutionen för biovetenskap

    Författare :Alexander Kokkonen; [2019]
    Nyckelord :NGS; next generation sequencing; clinical microbiology; systems biology;

    Sammanfattning : Metagenomic sequencing is an increasingly popular way of determining microbial diversity from environmental and clinical samples. By specifically targeting the 16S rRNA gene found in all bacteria, classifications of pathogens can be determined based on the variable and conserved regions found in the gene. LÄS MER

  4. 4. Evaluating the biological relevance of disease consensus modules : An in silico study of IBD pathology using a bioinformatics approach

    Kandidat-uppsats, Högskolan i Skövde/Institutionen för biovetenskap

    Författare :Joel Ströbaek; [2019]
    Nyckelord :Bioinformatics; Disease module; Consensus module; Disease consensus module; Network medicine; Inflammatory bowel disease; Crohn s disease; Ulcerative colitis; S2B; NSC; Tetralith; MODifieR;

    Sammanfattning : Inflammatory bowel disease encompasses a variety of heterogeneous chronic inflammatory diseases that affect the gastrointestinal tract, where Crohn’s disease and ulcerative colitis are the principal examples. The etiology of these, and many other complex human diseases, remain largely unknown and therefore pose relevant targets for novel research strategies. LÄS MER

  5. 5. Validation of a new software for detection of resistance associated substitutions in Hepatitis C-virus

    Uppsats för yrkesexamina på avancerad nivå, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Caitlin Vigetun Haughey; [2019]
    Nyckelord :Hepatitis C virus; HCV; Resistance; NS5A; Resistance associated substitutions; RAS; PacBio sequencing; Bioinformatics; Hepatit C virus; HCV; Resistens; NS5A; Sekvensering; PacBio; Bioinformatik;

    Sammanfattning : Hepatitis C infection is a global disease that causes an estimated 399,000 deaths per year. Treatment has improved dramatically in recent years through the development of direct acting antivirals that target specific regions of the Hepatitis C virus (HCV). LÄS MER