Search for dissertations about: "haplotype inference"

Showing result 1 - 5 of 9 swedish dissertations containing the words haplotype inference.

  2. 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 : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; 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

  4. 2. Genetic factors affecting pregnancy duration in humans

    Author : Jonas Bacelis; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; genomics; GWAS; Mendelian randomization; causal inference; preterm birth; pregnancy; gestation; height; text mining;

    Abstract : This thesis investigates the mechanisms behind human pregnancy duration. Too short gestation is a direct cause of perinatal, neonatal, and infant mortality. Deviation from normal pregnancy length is also associated with a child's morbidity, even in the adulthood. READ MORE

  5. 3. Computational statistical methods for genotyping biallelic DNA markers from pooled experiments

    Author : Camille Clouard; Carl Nettelblad; Lars Rönnegård; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

    Abstract : The information conveyed by genetic markers such as Single Nucleotide Polymorphisms (SNPs) has been widely used in biomedical research for studying human diseases, but also increasingly in agriculture by plant and animal breeders for selection purposes. Specific identified markers can act as a genetic signature that is correlated to certain characteristics in a living organism, e. READ MORE

  6. 4. Methodology and Infrastructure for Statistical Computing in Genomics : Applications for Ancient DNA

    Author : Kristiina Ausmees; Carl Nettelblad; Mattias Jakobsson; Flora Jay; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; statistical computing; genotype imputation; ancient DNA; deep learning; dimensionality reduction; genetic clustering; distributed computing; Scientific Computing; Beräkningsvetenskap;

    Abstract : This thesis concerns the development and evaluation of computational methods for analysis of genetic data. A particular focus is on ancient DNA recovered from archaeological finds, the analysis of which has contributed to novel insights into human evolutionary and demographic history, while also introducing new challenges and the demand for specialized methods. READ MORE

  7. 5. Population Genetic Methods and Applications to Human Genomes

    Author : Lucie Gattepaille; Mattias Jakobsson; Kevin Thornton; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Population genetics; Human evolution; Genetic diversity; Genetic differentiation; Adaptation; Population structure; Effective population size; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Abstract : Population Genetics has led to countless numbers of fruitful studies of evolution, due to its abilities for prediction and description of the most important evolutionary processes such as mutation, genetic drift and selection. The field is still growing today, with new methods and models being developed to answer questions of evolutionary relevance and to lift the veil on the past of all life forms. READ MORE