Sökning: "genetics"

Visar resultat 1 - 5 av 1462 avhandlingar innehållade ordet genetics.

  1. 1. Complex disease genetics Utilising targeted sequencing and homogeneous ancestry

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Argyri Mathioudaki; Uppsala universitet.; [2019]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. LÄS MER

  2. 2. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Mohamed Arifin Bin Kaderi; Uppsala universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; prognostic markers; single nucleotide polymorphisms; RNA-based markers; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; INTERDISCIPLINARY RESEARCH AREAS Caring sciences Medical laboratory science; TVÄRVETENSKAPLIGA FORSKNINGSOMRÅDEN Vårdvetenskap Medicinsk laboratorievetenskap; MEDICINE Surgery Oncology; MEDICIN Kirurgi Onkologi; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Haematology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Hematologi; Clinical Genetics; Klinisk genetik; Molekylär medicin; Molecular Medicine; Oncology; Onkologi; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER

  3. 3. Somatic Mutations in Breast Cancer Genomes Discovery and Validation of Breast Cancer Genes

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Xiang Jiao; Uppsala universitet.; [2012]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  4. 4. Complex Trait Genetics Beyond Additivity

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Simon Forsberg; Uppsala universitet.; [2016]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; genetic interactions; epistasis; additivity; GWAS; vGWAS; Genetic mapping; yeast; Arabidopsis Thaliana; dog; Genetics; Genetik;

    Sammanfattning : The link between the genotype and the phenotype of an organism is immensely complex. Despite this it can, to a great extent, be captured using models that assume that gene variants combine their effects in an additive manner. This thesis explores aspects of genetics that cannot be fully captured using such additive models. LÄS MER

  5. 5. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Helena Nord; Uppsala universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; MEDICINE Morphology; cell biology; pathology Morphology Tumour biology; MEDICIN Morfologi; cellbiologi; patologi Morfologi Tumörbiologi; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER