Sökning: "the new genetics"

Visar resultat 1 - 5 av 394 avhandlingar innehållade orden the new genetics.

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

    Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
    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; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; 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

  3. 2. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

    Författare :Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
    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

  4. 3. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Författare :Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. LÄS MER

  5. 4. Replication Dynamics in the DNA Damage Response

    Författare :Petra Groth; Thomas Helleday; Geroge Iliakis; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; DNA damage; DNA replication; homologous recombination; DNA double strand-breaks; ionizing radiation; alkylating agents; NATURAL SCIENCES; NATURVETENSKAP; Genetics; Genetik; molekylärgenetik; Molecular Genetics;

    Sammanfattning : Faithful DNA replication is essential and the induction of replication stress may have profound effects on genomic integrity. This is demonstrated by the formation of DNA double strand breaks (DSBs), considered to be the most toxic DNA lesions, at stalled replication forks. LÄS MER

  7. 5. Exploring the Realm of Gene Expression Differences Between White Leghorn and Red Junglefowl Chickens

    Författare :Carolyn Fitzsimmons; Leif Andersson; Finn Hallböök; Dave Burt; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; chicken; gene expression; microarray; polymorphism; Genetik; Genetics; Genetik;

    Sammanfattning : In this thesis we attempted to elicit patterns of gene expression that influence phenotype, and that may also have been altered by thousands of years of domestication and selection, between red junglefowl and White Leghorn chickens. Red junglefowl are the wild ancestor to all domesticated chickens, and poultry in general are highly valued as a research animal and food resource. LÄS MER