Sökning: "whole genome sequencing"

Visar resultat 1 - 5 av 53 uppsatser innehållade orden whole genome sequencing.

  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. A bear-y strong comeback: Investigating temporal genomic consequences of a recent demographic bottleneck in the Scandinavian brown bear

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Amanda Lindahl; [2023]
    Nyckelord :Evolutionary biology; ancient DNA; bottleneck; whole-genome sequencing;

    Sammanfattning : The Scandinavian brown bear went through a severe bottleneck due to human actions in the early 1900’s that reduced the population to low numbers. After protective measures were taken, the population recovered and today it consists of around 3000 individuals. 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. Developing a reproducible bioinformatics workflow for canine inherited retinal disease

    Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildning

    Författare :Melina Toni Marie Martin; [2023]
    Nyckelord :CanFam4; Nextflow; Inherited Retinal Degeneration; dog; whole-genome sequencing; bioinformatics;

    Sammanfattning : Inherited Retinal Degenerations (IRDs) are a heterogenous group of diseases which lead to vision impairment and can be found both in humans and in dogs. About 1 in 1,380 humans is estimated to suffer from an autosomal recessive IRD, which would be 5.5 million people worldwide, and many more are estimated to be unaffected carriers. LÄS MER