Sökning: "WGS"

Visar resultat 1 - 5 av 26 uppsatser innehållade ordet WGS.

  1. 1. Exploring the genetic cause of myotonic dystrophy in horses

    Master-uppsats, SLU/Dept. of Animal Breeding and Genetics

    Författare :Thomas Simon; [2023]
    Nyckelord :genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Sammanfattning : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). LÄS MER

  3. 2. Exploring the genetic cause of myotonic dystrophy in horses

    Master-uppsats, SLU/Dept. of Animal Breeding and Genetics

    Författare :Thomas Simon; [2023]
    Nyckelord :genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Sammanfattning : Myotonic Dystrophy (MD) is an inherited neuromuscular disorder that leads to a wide range of clinical signs including stiffness, abnormal muscle relaxation, and muscle atrophy or hypertrophy. Affected muscles develop a prolonged contracture in response to percussion of the muscle and show waxing and waning complex repetitive discharges in electromyography (EMG). LÄS MER

  4. 3. Towards mapping the genetic cause of polydactyly in a miniature Shetland pony family : Kartläggning av den genetiska orsaken till polydaktyli genom analys av helgenomssekvensdata från rasen miniatyr shetlandsponny

    Master-uppsats, SLU/Dept. of Animal Breeding and Genetics

    Författare :Delyan Tsvetanov Georgiev; [2023]
    Nyckelord :polydactyly; miniature Shetland pony; WGS; bioinformatics;

    Sammanfattning : Polydactyly is a vertebrate developmental condition characterized by the presence of supernumerary digits. Its manifestation and severity can vary, ranging from cosmetic to debilitating, and it is commonly inherited in a dominant manner. LÄS MER

  5. 4. The battle against sepsis : exploring the genotypic diversity of pseudomonas and proteus clinical isolates

    Master-uppsats, Högskolan i Skövde/Institutionen för biovetenskap

    Författare :Suud Ahmed; [2023]
    Nyckelord :;

    Sammanfattning : Sepsis is a dangerous and potentially fatal condition that has a mysterious origin, underscoring the significance of prompt and accurate diagnosis and treatment. Bacterial whole-genome sequencing, which is widely used in clinical microbiology, stands at the forefront of sequencing technologies, particularly to combat sepsis. LÄS MER

  7. 5. Development of a Python Pipeline for the Analysis of Campylobacter

    Kandidat-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Elvira Zetterberg; Evelina Andersson; Alma Nilsson; Moa Qvarnlöf; Corinne Olivero; Julia Sulyaeva; [2022]
    Nyckelord :Campylobacter; WGS; pipeline; sequence alignment; Illumina; ARIBA;

    Sammanfattning : Statens veterinärmedicinska anstalt, SVA, is a government agency that works for better animal and human health with a primary focus on infectious animal diseases. One of their projects involves tracking the spread of Campylobacter infection in broilers and the occurrence of antimicrobial resistance in these bacteria. LÄS MER