Sökning: "GWAS"

Visar resultat 6 - 10 av 108 avhandlingar innehållade ordet GWAS.

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

    Författare :Kate Megquier; Kerstin Lindblad-Toh; Ingegerd Elvers; David Sargan; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

    Sammanfattning : 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). LÄS MER

  3. 7. The effect of common and rare variants on inflammatory traits and diseases

    Författare :Julia Höglund; Åsa Johansson; Matthew Robinson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; inflammation; biomarkers; WES; WGS; NSPHS; UK Biobank; association study;

    Sammanfattning : Genome wide association studies (GWAS) have identified thousands of loci associated to an immense number of traits and diseases. Most associations have been to common variants, but rare variant associations are progressively being reported. LÄS MER

  4. 8. Genetic Predisposition to Sporadic and Familial Multiple Myeloma

    Författare :Britt-Marie Halvarsson; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multiple myeloma; genetics; inherited predisposition; familial multiple myeloma; GWAS; polygenic risk score;

    Sammanfattning : Multiple Myeloma (MM) is the second most common hematological malignancy. It is defined by an uncontrolled growth of plasma cells, usually in the bone marrow. Clinically it is complicated by hypercalcemia, renal failure, anaemia, and bone pain. LÄS MER

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

    Författare :Katarina Tengvall; Kerstin Lindblad-Toh; Göran Andersson; Åke Hedhammar; Gerli Rosengren Pielberg; Ingrid Skelton Kockum; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; canine model; genetic association; immunogenetics; atopic dermatitis; IgA deficiency; Molekylär genetik; Molecular Genetics;

    Sammanfattning : 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. LÄS MER

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

    Författare :Madhusudhan Reddy Bysani; Claes Wadelius; Mattias Mannervik; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ChIP-seq; Transcription factors; Alcoholic steatohepatitis; Genome-wide; GWAS; SNPs;

    Sammanfattning : 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. LÄS MER