Search for dissertations about: "Haplotype"

Showing result 1 - 5 of 237 swedish dissertations containing the word Haplotype.

  1. 1. Two Optimization Problems in Genetics : Multi-dimensional QTL Analysis and Haplotype Inference

    Author : Carl Nettelblad; Sverker Holmgren; José M. Álvarez-Castro; Jukka Corander; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; NATURAL SCIENCES; quantitative trait loci; genome-wide association studies; hidden Markov models; numerical optimization; linkage analysis; haplotype inference; genotype imputation; high performance computing;

    Abstract : The existence of new technologies, implemented in efficient platforms and workflows has made massive genotyping available to all fields of biology and medicine. Genetic analyses are no longer dominated by experimental work in laboratories, but rather the interpretation of the resulting data. READ MORE

  2. 2. Haemophilia in Sweden – Studies on mutations and clinical implications

    Author : Annika Mårtensson; Enheten för pediatrisk hematologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

    Abstract : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. READ MORE

  3. 3. Hereditary breast and ovarian cancer in western Sweden with a special focus on BRCA1 3171ins5 mutation

    Author : Zakaria Einbeigi; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : BRCA1 gene; breast neoplasm; ovarian neoplasm; hereditary; haplotype;

    Abstract : Aims: To describe the phenotype and geographic distribution of the western Swedish founder mutation BRCA1 3171ins5, evaluate the reliability of mutation analysis of this mutation on archival material, analyse the haplotype for founder effects in families with BRCA1 3171ins5 mutation, estimate the age of this mutation and evaluate whether the occurrence of both breast and ovarian cancers in the same women may be a marker of a BRCA gene mutation. Materials and methods: The first study was based on 16 families with BRCA1 3171ins5 mutation and the second study was based on 18 families with the same mutation. READ MORE

  4. 4. Seaweed in the tropical seascape : Importance, problems and potential

    Author : Stina Tano; Christina Halling; Sofia Wikström; Stockholms universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Seaweed; Macroalgae; Eucheumoids; Non-indigenous; Haplotype; Fish; Nursery; Epifauna; Diversity; Seaweed farming; Zanzibar; East Africa; Tropical; marin ekotoxikologi; Marine Ecotoxicology;

    Abstract : The increasing demand for seaweed extracts has led to the introduction of non-native seaweeds for farming purposes in many tropical regions. Such intentional introductions can lead to spread of non-native seaweeds from farming areas, which can become established in and alter the dynamics of the recipient ecosystems. READ MORE

  5. 5. Genetic variation and prostate cancer : population-based association studies in Sweden

    Author : Sara Lindström; Henrik Grönberg; Fredrik Wiklund; John Todd; Umeå universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; epidemiology; SRD5A2; ERG; progression; genetics; association studies; polymorphism; haplotype; CDH1; AR; CYP17; Oncology; Onkologi;

    Abstract : Prostate cancer constitutes the most common malignancy and the most common cause of cancer‐related death in Swedish men. A large body of evidence suggests that inherited genetic variants contribute to both development and progression of prostate cancer. READ MORE