Sökning: "Genotype Imputation"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden Genotype Imputation.

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

    Författare :Kristiina Ausmees; Carl Nettelblad; Mattias Jakobsson; Flora Jay; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

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

    Författare :Carl Nettelblad; Sverker Holmgren; José M. Álvarez-Castro; Jukka Corander; Uppsala universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  4. 3. Statistical Methods for Genome Wide Association Studies

    Författare :Malin Östensson; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genome Wide Association Studies; gene-gene interactions; Genotype imputation; allele sharing; haplotype sharing; Single Nucleotide Polymorphism; Celiac Disease; haplotype sharing;

    Sammanfattning : This thesis focus on various statistical methods for analyzing Genome Wide Association data. The thesis include four papers, three of them considers the analysis of complex traits, and the last one a method for analyzing mendelian traits. LÄS MER

  5. 4. Improving methods for Genome Wide Analysis of Coeliac Disease

    Författare :Malin Östensson; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Genome Wide Association Studies; Coeliac Disease; Genotype Imputation; Genome Wide Association Studies;

    Sammanfattning : .... LÄS MER

  7. 5. A computational and statistical framework for cost-effective genotyping combining pooling and imputation

    Författare :Camille Clouard; Carl Nettelblad; Christine Baes; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : The information conveyed by genetic markers, such as single nucleotide polymorphisms (SNPs), has been widely used in biomedical research to study human diseases and is increasingly valued in agriculture for genomic selection purposes. Specific markers can be identified as a genetic signature that correlates with certain characteristics in a living organism, e. LÄS MER