Search for dissertations about: "genetic variant"

Showing result 1 - 5 of 284 swedish dissertations containing the words genetic variant.

  1. 1. Genetic studies of diabetes in northern Sweden

    Author : Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

    Abstract : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. READ MORE

  2. 2. Exploring genetic heterogeneity in cancer using high-throughput DNA and RNA sequencing

    Author : Erik Fasterius; Cristina Al-Khalili Szigyarto; Mathias Uhlén; Peter-Bram ’t Hoen; KTH; []
    Keywords : ENGINEERING AND TECHNOLOGY; TEKNIK OCH TEKNOLOGIER; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; TEKNIK OCH TEKNOLOGIER; NATURAL SCIENCES; ENGINEERING AND TECHNOLOGY; Biotechnology; bioinformatics; RNA-seq; WGS; WES; systems biology; variant analysis; single nucleotide variant; gene expression; machine learning; clustering; open source; R; bioconductor; Python; Biotechnology; Bioteknologi;

    Abstract : High-throughput sequencing (HTS) technology has revolutionised the biomedical sciences, where it is used to analyse the genetic makeup and gene expression patterns of both primary patient tissue samples and models cultivated in vitro. This makes it especially useful for research on cancer, a disease that is characterised by its deadliness and genetic heterogeneity. READ MORE

  3. 3. Alcohol Consumption among Adolescents : Psychosocial and Genetic influences

    Author : Erika Comasco; Kent W. Nilsson; Lars Oreland; Rainer Spanagel; Uppsala universitet; []
    Keywords : adolescents; alcohol; biomarkers; depression; drinking motives; FAEE; gene environment interaction; interview; OPRM1; PER2; PEth; questionnaire; sleep; Neuroscience; Neurovetenskap;

    Abstract : The present thesis is based on four studies focusing on alcohol consumption among Swedish adolescents, and therewith related psychosocial and genetic factors. One main objective was to study the reasons for drinking alcohol among different population - representative samples of adolescents in order to identify motives for drinking. READ MORE

  4. 4. Genetic Determinants of Obesity in Relation to Diet, Weight Gain and Mortality

    Author : Gull Rukh; Diabetes - kardiovaskulär sjukdom; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genetic variants; copy number variants; genetic risk score; BMI; gene-diet interactions; annual weight change; substantial weight gain; sugar-sweetened beverages; mortality; Mendelian randomization;

    Abstract : Obesity is one of the major health concerns that has reached epidemic proportions globally. It is generally believed to be a result of interactions between genetic and environmental factors. READ MORE

  5. 5. Modelling and genetic correction of liver genetic diseases

    Author : Mihaela Zabulica; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. READ MORE