Search for dissertations about: "GWAS"

Showing result 1 - 5 of 69 swedish dissertations containing the word GWAS.

  1. 1. Translating Cardiac and Cardiometabolic GWAS Using Zebrafish

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Benedikt von der Heyde; Uppsala universitet.; [2019]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Zebrafish; Medicinsk genetik; Medical Genetics;

    Abstract : Genome-wide association studies (GWAS) have identified thousands of loci associated with cardiac and cardiometabolic traits. However, the trait-associated variants usually do not clearly point to causal gene(s), mechanism(s) or tissue(s). Model systems that allow for a comprehensive and quick candidate gene screening are necessary, ideally in vivo. READ MORE

  2. 2. Analysis of inherited and somatic variants to decipher canine complex traits

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Kate Megquier; Uppsala universitet.; [2018]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

    Abstract : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). READ MORE

  3. 3. Genetic linkage and association studies in celiac disease: discoveries from whole genome analysis

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Svetlana Adamovic; Göteborgs universitet.; Gothenburg University.; [2009]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Celiac Disease; genome-wide scan; linkage; association; GWAS; complex disease; autoimmune; 5q31-33; HLA; IL2 IL21;

    Abstract : Celiac Disease (CD) or Gluten Sensitive Enteropathy (GSE) is a life-long disorder. It is characterized by inflammation in the small intestine of genetically predisposed individuals caused by inappropriate immune response to gluten, a protein enriched in some of our common grains (wheat, rye and barley). READ MORE

  4. 4. Genetic Studies in Dogs Implicate Novel Genes Involved in Atopic Dermatitis and IgA Deficiency

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Katarina Tengvall; Uppsala universitet.; [2015]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; canine model; genetic association; immunogenetics; atopic dermatitis; IgA deficiency; Molekylär genetik; Molecular Genetics;

    Abstract : This thesis presents genetic studies of atopic dermatitis (AD) and IgA deficiency in dogs.AD is a chronic inflammatory and pruritic skin disorder caused by allergic reactions against environmental allergens. Both genetic and environmental factors are involved in the development of Canine AD (CAD) and human AD. READ MORE

  5. 5. Genome-Wide Studies of Transcriptional Regulation in Human Liver Cells by High-throughput Sequencing

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Madhusudhan Reddy Bysani; Uppsala universitet.; [2013]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ChIP-seq; Transcription factors; Alcoholic steatohepatitis; Genome-wide; GWAS; SNPs;

    Abstract : The human genome contains slightly more than 20 000 genes that are expressed in a tissue specific manner. Transcription factors play a key role in gene regulation. By mapping the transcription factor binding sites genome-wide we can understand their role in different biological processes. READ MORE