Essays about: "clinical sequencing"

Showing result 1 - 5 of 47 essays containing the words clinical sequencing.

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

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : 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). READ MORE

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

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Thomas Simon; [2023]
    Keywords : genetics; bioinformatics; myotonic dystrophy; horses; variant analysis;

    Abstract : 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). READ MORE

  4. 3. Pseudomonas aeruginosa gene expression analysis using pangenome and PAO1 reference genomes

    University essay from Lunds universitet/Examensarbeten i bioinformatik

    Author : Yi Su; [2023]
    Keywords : Biology and Life Sciences;

    Abstract : Development in sequencing technologies has made the analyses of genetic material much more accessible. Processing sequenced data for an accurate analysis comes with its challenges, especially with the studies in microbial in clinical in vivo samples where difficulties in the collection of these samples for sequencing could lower the quality and contamination from the human host which might affect the accuracy of downstream analysis. READ MORE

  5. 4. A Rank Score Model of Variants Prioritization for Rare Disease

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Nanxing Liu; [2023]
    Keywords : machine learning; variants; rare disease;

    Abstract : The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing technology. Next-generation sequencing (NGS) has become a standard practice in genetic diagnostics, enabling the identification of various genetic variations. READ MORE

  6. 5. Genetic characterization of a Ragdoll family affected by hypertrophic cardiomyopathy

    University essay from SLU/Dept. of Clinical Sciences

    Author : Emma Nääs; [2023]
    Keywords : Hypertrophic cardiomyopathy; Ragdoll; Genetics; Myosin binding protein C3; Myosin heavy chain 7; Cardiac troponin T; Alstrom syndrome protein 1;

    Abstract : Hypertrophic cardiomyopathy (HCM) is a common cardiac disease among felines, resulting in myocardial hypertrophy and subsequent decreased cardiac function. Consequently, cats may develop congestive heart failure and/or arterial thromboembolism. The disease is inherited and various mutations in sarcomeric genes have been associated with feline HCM. READ MORE