Sökning: "whole genome sequencing"
Visar resultat 1 - 5 av 53 uppsatser innehållade orden whole genome sequencing.
1. Exploring the genetic cause of myotonic dystrophy in horses
Master-uppsats, SLU/Dept. of Animal Breeding and GeneticsSammanfattning : 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
2. Exploring the genetic cause of myotonic dystrophy in horses
Master-uppsats, SLU/Dept. of Animal Breeding and GeneticsSammanfattning : 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. 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 grundutbildningSammanfattning : 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
4. The battle against sepsis : exploring the genotypic diversity of pseudomonas and proteus clinical isolates
Master-uppsats, Högskolan i Skövde/Institutionen för biovetenskapSammanfattning : 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
5. Developing a reproducible bioinformatics workflow for canine inherited retinal disease
Master-uppsats, Uppsala universitet/Institutionen för biologisk grundutbildningSammanfattning : 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