Sökning: "GWAS"

Visar resultat 1 - 5 av 108 avhandlingar innehållade ordet GWAS.

  1. 1. Beyond GWAS : Novel Methods and Resources for Genetic Epidemiology

    Författare :Daniel Schmitz; Åsa Johansson; Tuuli Lappalainen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; GWAS; NGS; long-read sequencing; mendelian randomization; WGS; CNVs;

    Sammanfattning : Since the first human genome assembly’s release, our knowledge of the genetic architecture of complex traits and diseases has grown steadily. Genome-wide association studies (GWAS) played a major role but are limited to common traits and single-nucleotide polymorphisms (SNPs). LÄS MER

  3. 2. Translating Cardiac and Cardiometabolic GWAS Using Zebrafish

    Författare :Benedikt von der Heyde; Marcel den Hoed; Anastasia Emmanouilidou; Erik Ingelsson; Shawn Burgess; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Zebrafish; Medicinsk genetik; Medical Genetics;

    Sammanfattning : 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. LÄS MER

  4. 3. From GWAS to gene : Zebrafish as a model system for large-scale studies of obesity and comorbidities

    Författare :Eugenia Mazzaferro; Marcel den Hoed; Randall Peterson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; genetic screens; gene editing; CRISPR Cas9; obesity; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Obesity increases the risk of developing comorbidities such as cardiovascular and metabolic diseases. However, not all obese individuals develop comorbidities, and those that do not are referred to as “metabolically healthy obesity” individuals. LÄS MER

  5. 4. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

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

    Författare :Svetlana Adamovic; Göteborgs universitet; []
    Nyckelord :Celiac Disease; genome-wide scan; linkage; association; GWAS; complex disease; autoimmune; 5q31-33; HLA; IL2 IL21;

    Sammanfattning : 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). LÄS MER